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O2k-Publications: Mitochondrial disease

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O2k-Publications: Mitochondrial disease

O2k-Publications in the MiPMap

»O2k-Publications: Topics

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 YearReferenceOrganismTissue;cell
Pegoraro 2024 Adv Drug Deliv Rev2024Pegoraro C, Domingo I, Conejos-Sánchez I, Vicent MJ (2024) Unlocking the mitochondria for nanomedicine-based treatments: overcoming biological barriers, improving designs, and selecting verification techniques.
Airik 2023 Antioxidants (Basel)2023Airik M, Arbore H, Childs E, Huynh AB, Phua YL, Chen CW, Aird K, Bharathi S, Zhang B, Conlon P, Kmoch S, Kidd K, Bleyer AJ, Vockley J, Goetzman E, Wipf P, Airik R (2023) Mitochondrial ROS triggers KIN pathogenesis in FAN1-deficient kidneys. https://doi.org/10.3390/antiox12040900HumanKidney
Kutschka 2023 Basic Res Cardiol2023Kutschka I, Bertero E, Wasmus C, Xiao K, Yang L, Chen X, Oshima Y, Fischer M, Erk M, Arslan B, Alhasan L, Grosser D, Ermer KJ, Nickel A, Kohlhaas M, Eberl H, Rebs S, Streckfuss-Bömeke K, Schmitz W, Rehling P, Thum T, Higuchi T, Rabinowitz J, Maack C, Dudek J (2023) Activation of the integrated stress response rewires cardiac metabolism in Barth syndrome. https://doi.org/10.1007/s00395-023-01017-xMouseHeart
Janz 2023 Mol Metab2023Janz A, Walz K, Cirnu A, Surjanto J, Urlaub D, Leskien M, Kohlhaas M, Nickel A, Brand T, Nose N, Wörsdörfer P, Wagner N, Higuchi T, Maack C, Dudek J, Lorenz K, Klopocki E, Ergün S, Duff HJ, Gerull B (2023) Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes. https://doi.org/10.1016/j.molmet.2023.101859HumanHeLa
Lee 2022 Hum Mol Genet2022Lee RG, Balasubramaniam S, Stentenbach M, Kralj T, McCubbin T, Padman B, Smith J, Riley LG, Priyadarshi A, Peng L, Nuske MR, Webster R, Peacock K, Roberts P, Stark Z, Lemire G, Ito YA; Care4Rare Canada Consortium, Boycott KM, Geraghty MT, van Klinken JB, Ferdinandusse S, Zhou Y, Walsh R, Marcellin E, Thorburn DR, Rosciolli T, Fletcher J, Rackham O, Vaz FM, Reid GE, Filipovska A (2022) Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease. https://doi.org/10.1093/hmg/ddac040HumanFibroblast
Aasander Frostner 2022 MitoFit2022Åsander Frostner E, Simón Serrano S, Chamkha I, Donnelly E, Elmér E, Hansson MJ (2022) Towards a treatment for mitochondrial disease: current compounds in clinical development. https://doi.org/10.26124/mitofit:2022-00142022-06-28 published in Bioenerg Commun 2022.4.Human
Zhao 2022 J Cell Sci2022Zhao Q, Yan S, Lu J, Parker DJ, Wu H, Sun Q, Crossman DK, Liu S, Wang Q, Sesaki H, Mitra K, Liu K, Jiao K (2022) Drp1 regulates transcription of ribosomal protein genes in embryonic hearts. https://doi.org/10.1242/jcs.258956MouseHeart
Aasander Frostner 2022 BEC2022Åsander Frostner E, Simón Serrano S, Chamkha I, Donnelly E, Elmér E, Hansson MJ (2022) Towards a treatment for mitochondrial disease: current compounds in clinical development. Bioenerg Commun 2022.4. https://doi.org/10.26124/bec:2022-0004Human
Zhou 2022 J Hum Genet2022Zhou X, Lou X, Zhou Y, Xie Y, Han X, Dong Q, Ying X, Laurentinah MR, Zhang L, Chen Z, Li D, Fang H, Lyu J, Yang Y, Wang Y (2022) Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency. https://doi.org/10.1038/s10038-022-01102-4HumanLymphocyte
Adant 2022 Mol Metab2022Adant I, Bird M, Decru B, Windmolders P, Wallays M, de Witte P, Rymen D, Witters P, Vermeersch P, Cassiman D, Ghesquière B (2022) Pyruvate and uridine rescue the metabolic profile of OXPHOS dysfunction. https://doi.org/10.1016/j.molmet.2022.101537HumanFibroblast
Belal 2022 Biomedicines2022Belal S, Goudenège D, Bocca C, Dumont F, Chao De La Barca JM, Desquiret-Dumas V, Gueguen N, Geffroy G, Benyahia R, Kane S, Khiati S, Bris C, Aranyi T, Stockholm D, Inisan A, Renaud A, Barth M, Simard G, Reynier P, Letournel F, Lenaers G, Bonneau D, Chevrollier A, Procaccio V (2022) Glutamate-induced deregulation of krebs cycle in mitochondrial encephalopathy lactic acidosis syndrome stroke-like episodes (MELAS) syndrome is alleviated by ketone body exposure. https://doi.org/10.3390/biomedicines10071665HumanNeuroblastoma
Schober 2022 Hum Mol Genet2022Schober FA, Tang JX, Sergeant K, Moedas MF, Zierz CM, Moore D, Smith C, Lewis D, Guha N, Hopton S, Falkous G, Lam A, Pyle A, Poulton J, Gorman GS, Taylor RW, Freyer C, Wredenberg A (2022) Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease. https://doi.org/10.1093/hmg/ddac002Mouse
Drosophila
Fibroblast
Spielmann 2022 Mamm Genome2022Spielmann N, Schenkl C, Komlódi T, da Silva-Buttkus P, Heyne E, Rohde J, Amarie OV, Rathkolb B, Gnaiger E, Doenst T, Fuchs H, Gailus-Durner V, de Angelis MH, Szibor M (2022) Knockout of the Complex III subunit Uqcrh causes bioenergetic impairment and cardiac contractile dysfunction. Mamm Genome 10.1007/s00335-022-09973-wMouseHeart
Munoz-Pujol 2022 Brain Pathol2022Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou C, Ugarteburu O, Gort L, Yubero D, García-Cazorla A, O'Callaghan M, Campistol J, Muchart J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch R, Ribes A, Urreizti R, Tort F (2022) Leigh syndrome is the main clinical characteristic of PTCD3 deficiency. https://doi.org/10.1111/bpa.13134HumanFibroblast
Gueguen 2021 Methods Mol Biol2021Gueguen N, Lenaers G, Reynier P, Weissig V, Edeas M (2021) Mitochondrial dysfunction in mitochondrial medicine: current limitations, pitfalls, and tomorrow. https://doi.org/10.1007/978-1-0716-1266-8_1
Friederich 2021 Mol Genet Metab2021Friederich MW, Geddes GC, Wortmann SB, Punnoose A, Wartchow E, Knight KM, Prokisch H, Creadon-Swindell G, Mayr JA, Van Hove JLK (2021) Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect. Mol Genet Metab 133:362-71.HumanFibroblast
Cretin 2021 EMBO Mol Med2021Cretin E, Lopes P, Vimont E, Tatsuta T, Langer T, Gazi A, Sachse M, Yu-Wai-Man P, Reynier P, Wai T (2021) High-throughput screening identifies suppressors of mitochondrial fragmentation in OPA1 fibroblasts. EMBO Mol Med 13:13579.MouseFibroblast
Sun 2021 J Genet Genomics2021Sun Y, Wei X, Fang F, Shen Y, Wei H, Li J, Ye X, Zhan Y, Ye X, Liu X, Yang W, Li Y, Geng X, Huang X, Ruan Y, Qin Z, Yi S, Lyu J, Fang H, Yu Y (2021) HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration. J Genet Genomics 48:727-36.HumanHeLa
Lymphocyte
Acin-Perez 2021 Life (Basel)2021Acin-Perez R, Benincá C, Shabane B, Shirihai OS, Stiles L (2021) Utilization of human samples for assessment of mitochondrial bioenergetics: gold standards, limitations, and future perspectives. Life (Basel) 11:949. doi: 10.3390/life11090949HumanSkeletal muscle
Blood cells
Fibroblast
Platelet
De Moura Alvorcem 2021 J Neurochem2021de Moura Alvorcem, L, Britto R, Cecatto C, Roginski AC, Rohden F, Scholl JN, Guma FCR, Figueiro F, Amaral AU, Zanatta G, Seminotti B, Wajner M, Leipnitz G. (2021) Ethylmalonic acid impairs bioenergetics by disturbing succinate and glutamate oxidation and induces mitochondrial permeability transition pore opening in rat cerebellum. J Neurochem 158(2): 262–81.RatNervous system
Inak 2021 Nat Commun2021Inak G, Rybak-Wolf A, Lisowski P, Pentimalli TM, Jüttner R, Glažar P, Uppal K, Bottani E, Brunetti D, Secker C, Zink A, Meierhofer D, Henke MT, Dey M, Ciptasari U, Mlody B, Hahn T, Berruezo-Llacuna M, Karaiskos N, Di Virgilio M, Mayr JA, Wortmann SB, Priller J, Gotthardt M, Jones DP, Mayatepek E, Stenzel W, Diecke S, Kühn R, Wanker EE, Rajewsky N, Schuelke M, Prigione A (2021) Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome. Nat Commun 12:1929.Nervous system
Kawamura 2021 Mol Ther Nucleic Acids2020Kawamura E, Maruyama M, Abe J, Sudo A, Takeda A, Takada S, Yokota T, Kinugawa S, Harashima H, Yamada Y (2021) Validation of gene therapy for mutant mitochondria by delivering mitochondrial RNA using a MITO-porter. Mol Ther Nucleic Acids 20:687-98.HumanFibroblast
Ferreira 2020 PLoS Genet2020Ferreira N, Andoniou CE, Perks KL, Ermer JA, Rudler DL, Rossetti G, Periyakaruppiah A, Wong JKY, Rackham O, Noakes PG, Degli-Esposti MA, Filipovska A (2020) Murine cytomegalovirus infection exacerbates complex IV deficiency in a model of mitochondrial disease. PLoS Genet 16:e1008604.MouseLiver
Wei 2020 Hum Mutat2020Wei X, Du M, Li D, Wen S, Xie J, Li Y, Chen A, Zhang K, Xu P, Jia M, Wen C, Zhou H, Lyu J, Yang Y, Fang H (2020) Mutations in FASTKD2 are associated with mitochondrial disease with multi-OXPHOS deficiency. Hum Mutat 41:961-72.HumanLymphocyte
Chen 2020 Mol Genet Genomic Med2020Chen D, Zhao Q, Xiong J, Lou X, Han Q, Wei X, Xie J, Li X, Zhou H, Shen L, Yang Y, Fang H, Lyu J (2020) Systematic analysis of a mitochondrial disease-causing ND6 mutation in mitochondrial deficiency. Mol Genet Genomic Med 8:e1199.HumanLymphocyte
Purhonen 2020 Nat Commun2020Purhonen J, Grigorjev V, Ekiert R, Aho N, Rajendran J, Pietras R, Truvé K, Wikström M, Sharma V, Osyczka A, Fellman V, Kallijärvi J (2020) A spontaneous mitonuclear epistasis converging on Rieske Fe-S protein exacerbates complex III deficiency in mice. Nat Commun 11:322.MouseLiver
Kidney
Roginski 2020 Biochim Biophys Acta Mol Basis Dis2020Roginski AC, Wajner A, Cecatto C, Wajner SM, Castilho RF, Wajner M, Amaral AU (2020) Disturbance of bioenergetics and calcium homeostasis provoked by metabolites accumulating in propionic acidemia in heart mitochondria of developing rats. Biochim Biophys Acta Mol Basis Dis 1866:165682.RatHeart
Other cell lines
Burgin 2020 Int J Mol Sci2020Burgin HJ, Lopez Sanchez MIG, Smith CM, Trounce IA, McKenzie M (2020) Pioglitazone and deoxyribonucleoside combination treatment increases mitochondrial respiratory capacity in m.3243A>G MELAS cybrid cells. Int J Mol Sci 21:E2139.HumanOther cell lines
Cecatto 2020 Mitochondrion2020Cecatto C, Amaral AU, Wajner A, Wajner SM, Castilho RF, Wajner M (2020) Disturbance of mitochondrial functions associated with permeability transition pore opening induced by cis-5-tetradecenoic and myristic acids in liver of adolescent rats. Mitochondrion 50:1-13.RatLiver
Other cell lines
Hassan 2020 MitoFit Preprint Arch2020Hassan Hazirah, Gnaiger Erich, Zakaria Fazaine, Makpol Suzana, Abdul Karim Norwahidah (2020) Alterations in mitochondrial respiratory capacity and membrane potential: a link between mitochondrial dysregulation and autism. https://doi.org/10.26124/mitofit:200003Human
Frambach 2020 Biochim Biophys Acta Mol Basis Dis2020Frambach SJCM, van de Wal MAE, van den Broek PHH, Smeitink JAM, Russel FGM, de Haas R, Schirris TJJ (2020) Effects of clofibrate and KH176 on life span and motor function in mitochondrial complex I-deficient mice. Biochim Biophys Acta Mol Basis Dis 1866:165727.MouseSkeletal muscle
Tepp 2020 Biochim Biophys Acta Gen Subj2020Tepp K, Puurand M, Timohhina N, Aid-Vanakova J, Reile I, Shevchuk I, Chekulayev V, Eimre M, Peet N, Kadaja L, Paju K, Kaambre T (2020) Adaptation of striated muscles to Wolframin deficiency in mice: Alterations in cellular bioenergetics. Biochim Biophys Acta Gen Subj 1864:129523.MouseHeart
Skeletal muscle
Cecatto 2020 Toxicol In Vitro2020Cecatto C, Amaral AU, Roginski AC, Castilho RF, Wajner M (2020) Impairment of mitochondrial bioenergetics and permeability transition induction caused by major long-chain fatty acids accumulating in VLCAD deficiency in skeletal muscle as potential pathomechanisms of myopathy. Toxicol In Vitro 62:104665.RatSkeletal muscle
Li 2019 Int Urol Nephrol2019Li Z, Zhou J, Li Y, Yang F, Lian X, Liu W (2019) Mitochondrial TRPC3 promotes cell proliferation by regulating the mitochondrial calcium and metabolism in renal polycystin-2 knockdown cells. Int Urol Nephrol 51:1059-70.HumanEndothelial;epithelial;mesothelial cell
Wolf 2019 Cells2019Wolf C, Zimmermann R, Thaher O, Bueno D, Wüllner V, Schäfer MKE, Albrecht P, Methner A (2019) The Charcot-Marie tooth disease mutation R94Q in MFN2 decreases ATP production but increases mitochondrial respiration under conditions of mild oxidative stress. Cells 8:E1289.MouseFibroblast
Rajendran 2019 EMBO Mol Med2019Rajendran J, Purhonen J, Tegelberg S, Smolander OP, Mörgelin M, Rozman J, Gailus-Durner V, Fuchs H, Hrabe de Angelis M, Auvinen P, Mervaala E, Jacobs HT, Szibor M, Fellman V, Kallijärvi J (2019) Alternative oxidase-mediated respiration prevents lethal mitochondrial cardiomyopathy. EMBO Mol Med 11:e9456.MouseLiver
Kidney
Heart
Itkis 2019 Mitochondrion2019Itkis Y, Krylova T, Pechatnikova NL, De Grassi A, Tabakov VY, Pierri CL, Aleshin V, Boyko A, Bunik VI, Zakharova EY (2019) A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent. Mitochondrion 47:10-17.HumanFibroblast
Germain 2019 Int J Med Sci2019Germain N, Dessein AF, Vienne JC, Dobbelaere D, Mention K, Joncquel M, Dekiouk S, Laine W, Kluza J, Marchetti P (2019) First-line screening of OXPHOS deficiencies using microscale oxygraphy in human skin fibroblasts: A preliminary study. Int J Med Sci 16:931-38.HumanFibroblast
Repp 2019 Thesis2019Repp BM (2019) Identification and verification of novel disease-causing genes and therapy options for patients with mitochondrial disorders – Focus on ACAD9. PhD Thesis 178.HumanHEK
Friederich 2019 Mol Genet Metab2019Friederich MW, Perez FA, Knight KM, Van Hove RA, Yang SP, Saneto RP, Van Hove JLK (2019) Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement. Mol Genet Metab 129:236-42.HumanFibroblast
Gaudo 2019 Neurogenetics2019Gaudó P, Emperador S, Garrido-Pérez N, Ruiz-Pesini E, Yubero D, García-Cazorla A, Artuch R, Montoya J, Bayona-Bafaluy MP (2019) Infectious stress triggers a POLG-related mitochondrial disease. Neurogenetics 21:19-27.HumanFibroblast
Sprenger 2018 EMBO Mol Med2018Sprenger HG, Wani G, Hesseling A, König T, Patron M, MacVicar T, Ahola S, Wai T, Barth E, Rugarli EI, Bergami M, Langer T (2018) Loss of the mitochondrial i-AAA protease YME1L leads to ocular dysfunction and spinal axonopathy. EMBO Mol Med 11:e9288.MouseNervous system
Boutoual 2018 Scientific Reports2018Boutoual, R., Meseguer, S., Villarroya, M., Martin-Hernandez, E., Errami, M., Martin, M. A., Casado, M., and Armengod, M. E. (2018) Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARgamma-UCP2-AMPK axis. Scientific reports 8, 1163HumanOther cell lines
Fibroblast
Bouwkamp 2018 Neurol Genet2018Bouwkamp CG, Afawi Z, Fattal-Valevski A, Krabbendam IE, Rivetti S, Masalha R, Quadri M, Breedveld GJ, Mandel H, Tailakh MA, Beverloo HB, Stevanin G, Brice A, van IJcken WFJ, Vernooij MW, Dolga AM, de Vrij FMS, Bonifati V, Kushner SA (2018) ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia. Neurol Genet 4:e223.Human
Cecatto 2018 FEBS J2018Cecatto C, Amaral AU, da Silva JC, Wajner A, Schimit MOV, da Silva LHR, Wajner SM, Zanatta A, Castilho RF, Wajner M (2018) Metabolite accumulation in VLCAD deficiency markedly disrupts mitochondrial bioenergetics and Ca2+ homeostasis in the heart. FEBS J 285:1437-55.RatHeart
Other cell lines
Kauppila 2018 Thesis2018Kauppila JHK (2018) Generating mammalian mitochondrial disease models with mitochondrial DNA mutations. PhD Thesis p120.MouseHeart
Liver
Li 2018 Gene2018Li Y, Wen S, Li D, Xie J, Wei X, Li X, Liu Y, Fang H, Yang Y, Lyu J (2018) SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences. Gene 674:15-24.HumanBlood cells
Ignatenko 2018 Nat Commun2018Ignatenko O, Chilov D, Paetau I, de Miguel E, Jackson CB, Capin G, Paetau A, Terzioglu M, Euro L, Suomalainen A (2018) Loss of mtDNA activates astrocytes and leads to spongiotic encephalopathy. Nat Commun 9:70.MouseNervous system
Harmuth 2018 Front Mol Neurosci2018Harmuth T, Prell-Schicker C, Weber JJ, Gellerich F, Funke C, Drießen S, Magg JCD, Krebiehl G, Wolburg H, Hayer SN, Hauser S, Krüger R, Schöls L, Riess O, Hübener-Schmid J (2018) Mitochondrial morphology, function and homeostasis are impaired by expression of an N-terminal calpain cleavage fragment of Ataxin-3. Front Mol Neurosci 11:368.MouseFibroblast
Dogan 2018 Cell Metab2018Dogan SA, Cerutti R, Benincá C, Brea-Calvo G, Jacobs HT, Zeviani M, Szibor M, Viscomi C (2018) Perturbed redox signaling exacerbates a mitochondrial myopathy. Cell Metab 28:764-77.MouseSkeletal muscle
Jia 2018 Circ Res2018Jia G, Hill MA, Sowers JR (2018) Diabetic cardiomyopathy: an update of mechanisms contributing to this clinical entity. Circ Res 122:624–38.HumanHeart
Isohanni 2018 Neurogenetics2018Isohanni P, Carroll CJ, Jackson CB, Pohjanpelto M, Lönnqvist T, Suomalainen A (2018) Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth. Neurogenetics 19:49-53.HumanSkeletal muscle
Blood cells
Fibroblast
Angebault 2018 Sci Signal2018Angebault C, Fauconnier J, Patergnani S, Rieusset J, Danese A, Affortit CA, Jagodzinska J, Mégy C, Quiles M, Cazevieille C, Korchagina J, Bonnet-Wersinger D, Milea D, Hamel C, Pinton P, Thiry M, Lacampagne A, Delprat B, Delettre C (2018) ER-mitochondria cross-talk is regulated by the Ca2+ sensor NCS1 and is impaired in Wolfram syndrome. Sci Signal 11:eaaq1380.HumanFibroblast
Einer 2018 Cell Mol Gastroenterol Hepatol2018Einer C, Leitzinger C, Lichtmannegger J, Eberhagen C, Rieder T, Borchard S, Wimmer R, Denk G, Popper B, Neff F, Polishchuk EV, Polishchuk RS, Hauck SM, von Toerne C, Müller JC, Karst U, Baral BS, DiSpirito AA, Kremer AE, Semrau J, Weiss KH, Hohenester S, Zischka H (2018) A high calorie diet aggravates mitochondrial dysfunction and triggers severe liver damage in Wilson disease rats. Cell Mol Gastroenterol Hepatol 7:571-96.RatLiver
Alston 2018 Am J Hum Genet2018Alston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C, French CE, Glasgow RIC, Feichtinger RG, Delon I, Pagnamenta AT, Dolling H, Lemonde H, Aiton N, Bjørnstad A, Henneke L, Gärtner J, Thiele H, Tauchmannova K, Quaghebeur G, Houstek J, Sperl W, Raymond FL, Prokisch H, Mayr JA, McFarland R, Poulton J, Ryan MT, Wittig I, Henneke M, Taylor RW (2018) Bi-allelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency. Am J Hum Genet 103:592-601.HumanFibroblast
Arnoux 2018 Elife2018Arnoux I, Willam M, Griesche N, Krummeich J, Watari H, Offermann N, Weber S, Narayan Dey P, Chen C, Monteiro O, Buettner S, Meyer K, Bano D, Radyushkin K, Langston R, Lambert JJ, Wanker E, Methner A, Krauss S, Schweiger S, Stroh A (2018) Metformin reverses early cortical network dysfunction and behavior changes in Huntington's disease. Elife 7:e38744.MouseNervous system
Collard 2018 Mol Cell Biol2018Collard R, Majtan T, Park I, Kraus JP (2018) Import of TAT-conjugated propionyl coenzyme A carboxylase using models of propionic acidemia. Mol Cell Biol 38. pii: e00491-17.MouseLiver
Eimre 2018 Oxid Med Cell Longev2018Eimre M, Paju K, Peet N, Kadaja L, Tarrend M, Kasvandik S, Seppet J, Ivask M, Orlova E, Kõks S (2018) Increased mitochondrial protein levels and bioenergetics in the musculus rectus femoris of Wfs1-deficient mice. Oxid Med Cell Longev 2018:3175313.MouseSkeletal muscle
Becker 2018 EMBO Rep2018Becker C, Kukat A, Szczepanowska K, Hermans S, Senft K, Brandscheid CP, Maiti P, Trifunovic A (2018) CLPP deficiency protects against metabolic syndrome but hinders adaptive thermogenesis. EMBO Rep 19. pii: e45126.MouseLiver
Fat
Chen 2018 Hum Mol Genet2018Chen A, Tiosano D, Guran T, Baris HN, Bayram Y, Mory A, Shapiro-Kulnane L, Hodges CA, Coban Akdemir Z, Turan S, Jhangiani SN, van den Akker F, Hoppel CL, Salz HK, Lupski JR, Buchner DA (2018) Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. Hum Mol Genet 27:1913-26.HumanEndothelial;epithelial;mesothelial cell
Fibroblast
Ruiz 2017 Brain Pathol2017Ruiz M, Bégou M, Launay N, Ranea-Robles P, Bianchi P, López-Erauskin J, Morató L, Guilera C, Petit B, Vaurs-Barriere C, Guéret-Gonthier C, Bonnet-Dupeyron MN, Fourcade S, Auwerx J, Boespflug-Tanguy O, Pujol A (2017) Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease. Brain Pathol 28:611-30.Human
Mouse
Nervous system
Fibroblast
Kang 2017 Mol Cell2017Kang Y, Stroud DA, Baker MJ, De Souza DP, Frazier AE, Liem M, Tull D, Mathivanan S, McConville MJ, Thorburn DR, Ryan MT, Stojanovski D (2017) Sengers Syndrome-associated mitochondrial acylglycerol kinase is a subunit of the human TIM22 protein import complex. Mol Cell 67:457-70.Human
Chin 2017 US Patent2017Chin MT, Chien WM, Dinca A (2017) Methods for treating and preventing cardiomyopathy. US Patent WO2016094791A1.MouseHeart
Lin 2017 Dis Model Mech2017Lin H, Magrane J, Rattelle A, Stepanova A, Galkin A, Clark EM, Dong YN, Halawani SM, Lynch DR (2017) Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia. Dis Model Mech 10(11):1343-52.MouseNervous system
Kennedy 2017 Skelet Muscle2017Kennedy TL, Moir L, Hemming S, Edwards B, Squire S, Davies K, Guiraud S (2017) Utrophin influences mitochondrial pathology and oxidative stress in dystrophic muscle. Skelet Muscle 7:22.MouseSkeletal muscle
Krylova 2017 Biomed Khim2017Krylova TD, Tsygankova PG, Itkis YS, Sheremet NL, Nevinitsyna TA, Mikhaylova SV, Zakharova EY (2017) High resolution respirometry in diagnostic of mitochondrial disorders caused by mitochondrial complex I deficiency. Biomed Khim 63:327-33.HumanEndothelial;epithelial;mesothelial cell
Fibroblast
Westerlund 2017 Pediatr Res2017Westerlund E, Marelsson SE, Ehinger JK, Sjövall F, Morota S, Åsander Frostner E, Oldfors A, Darin N, Lundgren J, Hansson MJ, Fellman V, Elmér E (2017) Oxygen consumption in platelets as an adjunct diagnostic method for pediatric mitochondrial disease. Pediatr Res 83:455-65.HumanPlatelet
Blood cells
Thomas 2016 Neurodegeneration Therapeutics2016Thomas RR, Keeney PM, Berr SB, Khan SM, Portell FR, Shakenov MZ, Antkowiak PF, Kundu B, Tustison N, Brohawn DG, Bennett JP (2016) Recombinant human TFAM stimulates rat brain, rat cervical spinal cord and human neural stem cell mitochondrial bioenergetics. Neurodegeneration Therapeutics p41.RatNervous system
Kawalec 2016 Praca doktorska2016Kawalec MM (2016) Badanie komórkowych skutków mutacji w genie mitofuzyny 2. Próba zaproponowania testu patogenności mutacji. Praca doktorska p86.MouseFibroblast
Koopman 2016 EMBO Mol Med2016Koopman WJ, Beyrath J, Fung CW, Koene S, Rodenburg RJ, Willems PH, Smeitink JA (2016) Mitochondrial disorders in children: toward development of small-molecule treatment strategies. EMBO Mol Med 8:311-27.
Hartmannova 2016 Hum Mol Genet2016Hartmannová H, Piherová L, Tauchmannová K, Kidd K, Acott PD, Crocker JF, Oussedik Y, Mallet M, Hodaňová K, Stránecký V, Přistoupilová A, Barešová V, Jedličková I, Živná M, Sovová J, Hůlková H, Robins V, Vrbacký M, Pecina P, Kaplanová V, Houštěk J, Mráček T, Thibeault Y, Bleyer AJ, Kmoch S (2016) Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6. Hum Mol Genet 25:4062-79.HumanFibroblast
Cecatto 2016 Thesis2016Cecatto C (2016) Efeitos de acidos graxos hidroxilados de cadeia longa acumulados nas deficiencias da 3-hidroxiacil CoA desidrogenase de cadeia longa e da proteina trifunctional mitocondrial sobre a homeostase energetica mitochondrial nos musculos cardiaco e esqueletico de ratos jovens. Dissertation p103.RatHeart
Skeletal muscle
Ehinger 2016 Nat Commun2016Ehinger JK, Piel S, Ford R, Karlsson M, Sjövall F, Frostner EÅ, Morota S, Taylor RW, Turnbull DM, Cornell C, Moss SJ, Metzsch C, Hansson MJ, Fliri H, Elmér E (2016) Cell-permeable succinate prodrugs bypass mitochondrial Complex I deficiency. Nat Commun 7:12317. https://doi.org/10.1038/ncomms12317Heart
Blood cells
Fibroblast
Richman 2016 Nat Commun2016Richman TR, Spåhr H, Ermer JA, Davies SM, Viola HM, Bates KA, Papadimitriou J, Hool LC, Rodger J, Larsson NG, Rackham O, Filipovska A (2016) Loss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in mice. Nat Commun 7:11884.MouseHeart
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McCurdy 2016 JCI Insight2016McCurdy CE, Schenk S, Hetrick B, Houck J, Drew BG, Kaye S, Lashbrook M, Bergman BC, Takahashi DL, Dean TA, Nemkov T, Gertsman I, Hansen KC, Philp A, Hevener AL, Chicco AJ, Aagaard KM, Grove KL, Friedman JE (2016) Maternal obesity reduces oxidative capacity in fetal skeletal muscle of Japanese macaques. JCI Insight 1:e86612.Other mammalsSkeletal muscle
Heimer 2016 Am J Hum Genet2016Heimer G, Kerätär JM, Riley LG, Balasubramaniam S, Eyal E, Pietikäinen LP, Hiltunen JK, Marek-Yagel D, Hamada J, Gregory A, Rogers C, Hogarth P, Nance MA, Shalva N, Veber A, Tzadok M, Nissenkorn A, Tonduti D, Renaldo F, Kraoua I, Panteghini C, Valletta L, Garavaglia B, Cowley MJ, Gayevskiy V, Roscioli T, Silberstein JM, Hoffmann C, Raas-Rothschild A, Tiranti V, Anikster Y, Christodoulou J, Kastaniotis AJ, Ben-Zeev B, Hayflick SJ (2016) MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder. Am J Hum Genet 99:1229-44.HumanFibroblast
Morato 2015 Cell Death Differ2015Morató L, Ruiz M, Boada J, Calingasan NY, Galino J, Guilera C, Jové M, Naudí A, Ferrer I, Pamplona R, Serrano M, Portero-Otín M, Beal MF, Fourcade S, Pujol A (2015) Activation of sirtuin 1 as therapy for the peroxisomal disease adrenoleukodystrophy. Cell Death Differ 22:1742-53.MouseNervous system
Richman 2015 PLoS Genet2015Richman TR, Ermer JA, Davies SM, Perks KL, Viola HM, Shearwood AM, Hool LC, Rackham O, Filipovska A (2015) Mutation in MRPS34 compromises protein synthesis and causes mitochondrial dysfunction. PLoS Genet 11:e1005089.MouseHeart
Liver
Antoun 2015 JIMD Rep2015Antoun G, McBride S, Vanstone JR, Naas T, Michaud J, Redpath S, McMillan HJ, Brophy J, Daoud H, Chakraborty P, Dyment D, Holcik M, Harper ME, Lines MA (2015) Detailed biochemical and bioenergetic characterization of FBXL4-related encephalomyopathic mitochondrial DNA depletion. JIMD Rep 27:1-9.HumanSkeletal muscle
Blanchet 2015 Sci Rep2015Blanchet L, Smeitink JA, van Emst-de Vries SE, Vogels C, Pellegrini M, Jonckheere AI, Rodenburg RJ, Buydens LM, Beyrath J, Willems PH, Koopman WJ (2015) Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning. Sci Rep 5:8035.HumanEndothelial;epithelial;mesothelial cell
Fibroblast
Hejzlarova 2015 Biochem J2015Hejzlarová K, Kaplanová V, Nůsková H, Kovářová N, Ješina P, Drahota Z, Mráček T, Seneca S, Houštěk J (2015) Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of Fo-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation. Biochem J 466:601-11.HumanOther cell lines
Leman 2015 Int J Biochem Cell Biol2015Leman G, Gueguen N, Desquiret-Dumas V, Kane MS, Wettervald C, Chupin S, Chevrollier A, Lebre AS, Bonnefont JP, Barth M, Amati-Bonneau P, Verny C, Henrion D, Bonneau D, Reynier P, Procaccio V (2015) Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency. Int J Biochem Cell Biol 65:91-103.HumanEndothelial;epithelial;mesothelial cell
Fibroblast
Kishita 2015 Am J Hum Genet2015Kishita Y, Pajak A, Bolar NA, Marobbio CM, Maffezzini C, Miniero DV, Monné M, Kohda M, Stranneheim H, Murayama K, Naess K, Lesko N, Bruhn H, Mourier A, Wibom R, Nennesmo I, Jespers A, Govaert P, Ohtake A, Van Laer L, Loeys BL, Freyer C, Palmieri F, Wredenberg A, Okazaki Y, Wedell A (2015) Intra-mitochondrial methylation deficiency due to mutations in SLC25A26. Am J Hum Genet 97:761-8.HumanSkeletal muscle
Fibroblast
Suarez 2015 PhD Thesis2015Suárez Cunza S (2015) Actividad captadora de Radicales libres y Effecto antioxidante de Metabolitos secundarios del extracto acuoso des "Allium sativum" var. Huaralino (Ajo) en Modelos in vitro. PhD Thesis 1-39.RatLiver
Krumschnabel 2014 Methods Enzymol2014Krumschnabel G, Eigentler A, Fasching M, Gnaiger E (2014) Use of safranin for the assessment of mitochondrial membrane potential by high-resolution respirometry and fluorometry. https://doi.org/10.1016/B978-0-12-416618-9.00009-1MouseNervous system
Vigueira 2014 Cell Rep2014Vigueira PA, McCommis KS, Schweitzer GG, Remedi MS, Chambers KT, Fu X, McDonald WG, Cole SL, Colca JR, Kletzien RF, Burgess SC, Finck BN (2014) Mitochondrial pyruvate carrier 2 hypomorphism in mice leads to defects in glucose-stimulated insulin secretion. Cell Rep 7:2042-53.MouseHeart
Kidney
Pulliam 2014 Biochem J2014Pulliam DA, Deepa SS, Liu Y, Hill S, Lin AL, Bhattacharya A, Shi Y, Sloane L, Viscomi C, Zeviani M, Van Remmen H (2014) Complex IV-deficient Surf1(-/-) mice initiate mitochondrial stress responses. Biochem J 462:359-71.MouseHeart
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Schlagowski 2014 J Appl Physiol2014Schlagowski AI, Singh F, Charles AL, Gali Ramamoorthy T, Favret F, Piquard F, Geny B, Zoll J (2014) Mitochondrial uncoupling reduces exercise capacity despite several skeletal muscle metabolic adaptations. J Appl Physiol 116:364-75.RatSkeletal muscle
Pham 2014 Am J Physiol2014Pham T, Loiselle D, Power A, Hickey AJ (2014) Mitochondrial inefficiencies and anoxic ATP hydrolysis capacities in diabetic rat heart. Am J Physiol 307:C499–507.RatHeart
Yin 2014 J Clin Endocrinol Metab2014Yin X, Lanza IR, Swain JM, Sarr MG, Nair KS, Jensen MD (2014) Adipocyte mitochondrial function is reduced in human obesity independent of fat cell size. J Clin Endocrinol Metab 99:E209-16.HumanFat
Kemppainen 2014 Hum Mol Genet2014Kemppainen KK, Rinne J, Sriram A, Lakanmaa M, Zeb A, Tuomela T, Popplestone A, Singh S, Sanz A, Rustin P, Jacobs HT (2014) Expression of alternative oxidase in Drosophila ameliorates diverse phenotypes due to cytochrome oxidase deficiency. Hum Mol Genet 23:2078-93.Drosophila
Flachs 2013 Biochim Biophys Acta2013Flachs P, Rossmeisl M, Kuda O, Kopecky J (2013) Stimulation of mitochondrial oxidative capacity in white fat independent of UCP1: A key to lean phenotype. Biochim Biophys Acta 1831:986-1003.
Karlsson 2013 Int J Biochem Cell Biol2013Karlsson M, Hempel C, Sjövall F, Hansson Magnus J, Kurtzhals JA, Elmér E (2013) Brain mitochondrial function in a murine model of cerebral malaria and the therapeutic effects of rhEPO. Int J Biochem Cell Biol 45:151-5.MouseNervous system
Guitart 2013 Nucleic Acids Res2013Guitart T, Picchioni D, Piñeyro D, Ribas de Pouplana L (2013) Human mitochondrial disease-like symptoms caused by a reduced tRNA aminoacylation activity in flies. Nucleic Acids Res 41:6595-608.Drosophila
Hexapods
Hroudova 2013 Mitochondrion2013Hroudová J, Fišar Z, Kitzlerová E, Zvěřová M, Raboch J (2013) Mitochondrial respiration in blood platelets of depressive patients. Mitochondrion 13:795-800.HumanBlood cells
Platelet
Roy 2013 PLoS One2013Roy C, Paglialunga S, Schaart G, Moonen-Kornips E, Meex RC, Phielix E, Hoeks J, Hesselink MK, Cianflone K, Schrauwen P (2013) Relationship of C5L2 receptor to skeletal muscle substrate utilization. PLoS One 8:e57494.Human
Mouse
Skeletal muscle
Zhang 2013 PLoS One2013Zhang Z, Tsukikawa M, Peng M, Polyak E, Nakamaru-Ogiso E, Ostrovsky J, McCormack S, Place E, Clarke C, Reiner G, McCormick E, Rappaport E, Haas R, Baur JA, Falk MJ (2013) Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling network. PLoS One 8:e69282.HumanFibroblast
Vielhaber 2013 Acta Neuropathol2013Vielhaber S, Debska-Vielhaber G, Peeva V, Schoeler S, Kudin AP, Minin I, Schreiber S, Dengler R, Kollewe K, Zuschratter W, Kornblum C, Zsurka G, Kunz WS (2013) Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion. Acta Neuropathol 125:245-56.HumanSkeletal muscle
Stride 2013 Eur J Heart Fail2013Stride N, Larsen S, Hey-Mogensen M, Sander K, Lund JT, Gustafsson F, Kober L, Dela F (2013) Decreased mitochondrial oxidative phosphorylation capacity in the human heart with left ventricular systolic dysfunction. Eur J Heart Fail 15:150-7.HumanHeart
Kiebish 2013 J Lipid Res2013Kiebish MA, Yang K, Liu X, Mancuso DJ, Guan S, Zhao Z, Sims HF, Cerqua R, Cade WT, Han X, Gross RW (2013) Dysfunctional cardiac mitochondrial bioenergetic, lipidomic, and signaling in a murine model of Barth syndrome. J Lipid Res 54:1312-25.MouseHeart
Lopez-Erauskin 2013 Hum Mol Genet2013López-Erauskin J, Galino J, Ruiz M, Cuezva JM, Fabregat I, Cacabelos D, Boada J, Martínez J, Ferrer I, Pamplona R, Villarroya F, Portero-Otín M, Fourcade S, Pujol A (2013) Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy. Hum Mol Genet 22:3296-305.MouseNervous system
Iglesias-Gonzalez 2013 J Neurosci Methods2013Iglesias-Gonzalez J, Sanchez-Iglesias S, Beiras-Iglesias A, Soto-Otero R, Mendez-Alvarez E (2013) A simple method for isolating rat brain mitochondria with high metabolic activity: Effects of EDTA and EGTA. J Neurosci Methods 213:39-42.RatNervous system
Jirkovsky 2012 J Pharmacol Exp Ther2012Jirkovsky E, Popelová O, Kriváková-Stanková P, Vávrová A, Hroch M, Hasková P, Brcáková-Dolezelová E, Micuda S, Adamcová M, Simůnek T, Cervinková Z, Gersl V, Sterba M (2012) Chronic anthracycline cardiotoxicity: molecular and functional analysis with focus on nuclear factor erythroid 2-related factor 2 and mitochondrial biogenesis pathways. J Pharmacol Exp Ther 343:468-78.RabbitHeart
Gutierrez 2012 Hum Mutat2012Gutiérrez Cortés N, Pertuiset C, Dumon E, Börlin M, Hebert-Chatelain E, Pierron D, Feldmann D, Jonard L, Marlin S, Letellier T, Rocher C (2012) Novel mitochondrial DNA mutations responsible for maternally inherited non-syndromic hearing loss. Hum Mutat 33:681-9Human
Phielix 2012 Diabetes2012Phielix E, Meex R, Ouwens DM, Sparks LM, Hoeks J, Schaart G, Moonen-Kornips E, Hesselink MK, Schrauwen P (2012) High oxidative capacity due to chronic exercise training attenuates lipid-induced insulin resistance. Diabetes 61:2472-8.HumanSkeletal muscle
Booth 2012 Int J Clin Exp Med2012Booth NE, Myhill S, McLaren-Howard J (2012) Mitochondrial dysfunction and the pathophysiology of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS). Int J Clin Exp Med 5:208-20.
Silva 2012 PLOS ONE2012Silva da Costa L, Pereira da Silva AP, Da Poian AT, El-Bacha T (2012) Mitochondrial bioenergetic alterations in mouse neuroblastoma cells infected with Sindbis virus: implications to viral replication and neuronal death. PLoS One 7:e33871.MouseNeuroblastoma
Miquel 2012 PLoS One2012Miquel E, Cassina A, Martinez-Palma L, Bolatto C, Trias E, Gandelman M, Radi R, Barbeito L, Cassina P (2012) Modulation of astrocytic mitochondrial function by dichloroacetate improves survival and motor performance in inherited amyotrophic lateral sclerosis. PLoS One 7:e34776.MouseNervous system
De Souza 2012 Lipids2012de Souza Pinto R, Castilho G, Paim BA, Machado-Lima A, Inada NM, Nakandakare ER, Vercesi AE, Passarelli M (2012) Inhibition of macrophage oxidative stress prevents the reduction of ABCA-1 transporter induced by advanced glycated albumin. Lipids 47:443-50.
Iglesias-Gonzalez 2012 Neurochem Res2012Iglesias-Gonzalez J, Sanchez-Iglesias S, Mendez-Alvarez E, Rose S, Hikima A, Jenner P, Soto-Otero R (2012) Differential toxicity of 6-hydroxydopamine in SH-SY5Y human neuroblastoma cells and rat brain mitochondria: protective role of catalase and superoxide dismutase. Neurochem Res 37:2150-60.RatNervous system
Eckert 2012 Mol Neurobiol2012Eckert GP, Renner K, Eckert SH, Eckmann J, Hagl S, Abdel-Kader RM, Kurz C, Leuner K, Muller WE (2012) Mitochondrial dysfunction - a pharmacological target in Alzheimer's disease. Mol Neurobiol 46:136-50.Human
Iyer 2012 Hum Gene Ther2012Iyer S, Bergquist K, Young K, Gnaiger E, Rao RR, Bennett JP Jr (2012) Mitochondrial gene therapy improves respiration, biogenesis and transcription in G11778A Leber’s hereditary optic neuropathy and T8993G Leigh’s syndrome cells. Hum Gene Ther 23:647-57.HumanFibroblast
Pimenta 2012 Cell Death Differ2012Pimenta de Castro I, Costa AC, Lam D, Tufi R, Fedele V, Moisoi N, Dinsdale D, Deas E, Loh SH, Martins LM (2012) Genetic analysis of mitochondrial protein misfolding in Drosophila melanogaster. Cell Death Differ doi:10.1038/cdd.2012.5.Drosophila
Attane 2012 Diabetes2012Attané C, Foussal C, Le Gonidec S, Benani A, Daviaud D, Wanecq E, Guzmán-Ruiz R, Dray C, Bezaire V, Rancoule C, Kuba K, Ruiz-Gayo M, Levade T, Penninger J, Burcelin R, Pénicaud L, Valet P, Castan-Laurell I (2012) Apelin treatment increases complete fatty acid oxidation, mitochondrial oxidative capacity, and biogenesis in muscle of insulin-resistant mice. Diabetes 61:310-20.MouseSkeletal muscle
Koopman 2012 N Engl J Med2012Koopman WJ, Willems PH, Smeitink JA (2012) Monogenic mitochondrial disorders. N Engl J Med 366:1132-41.
Stensvold 2012 Metab Syndr Relat Disord2012Stensvold D, Slørdahl SA, Wisløff U (2012) Effect of exercise training on inflammation status among people with metabolic syndrome. Metab Syndr Relat Disord 10:267-72.Human
Japiassu 2011 Crit Care Med2011Japiassu AM, Santiago AP, d'Avila Jda C, Garcia-Souza LF, Galina A, Castro Faria-Neto HC, Bozza FA, Oliveira MF (2011) Bioenergetic failure of human peripheral blood monocytes in patients with septic shock is mediated by reduced F1Fo adenosine-5'-triphosphate synthase activity. Crit Care Med 39:1056-63.HumanBlood cells
Paulsen 2011 Cell Transplant2011Paulsen BD, Maciel RD, Galina A, da Silveira MS, Souza CD, Drummond H, Pozzato EN, Junior HS, Chicaybam L, Massuda R, Setti-Perdigão P, Bonamino M, Belmonte-de-Abreu PS, Castro NG, Brentani H, Rehen SK (2011) Altered oxygen metabolism associated to neurogenesis of induced pluripotent stem cells derived from a schizophrenic patient. Cell Transplant 21:1547-59HumanFibroblast
Naimi 2011 Clin Physiol Funct Imaging2011Naimi AI, Bourbeau J, Perrault H, Baril J, Wright-Paradis C, Rossi A, Taivassalo T, Sheel AW, Rabøl R, Dela F, Boushel RC (2011) Altered mitochondrial regulation in quadriceps muscles of patients with COPD. Clin Physiol Funct Imaging 31:124-31.HumanSkeletal muscle
Marechal 2011 Clin Sci (Lond)2011Marechal X, Montaigne D, Marciniak C, Marchetti P, Hassoun SM, Beauvillain JC, Lancel S, Neviere R (2011) Doxorubicin-induced cardiac dysfunction is attenuated by ciclosporin treatment in mice through improvements in mitochondrial bioenergetics. Clin Sci (Lond) 121:405-13.MouseHeart
Goetzman 2011 Prog Mol Biol Transl Sci2011Goetzman ES (2011) Modeling disorders of fatty acid metabolism in the mouse. Prog Mol Biol Transl Sci 100:389-417. https://doi.org/10.1016/B978-0-12-384878-9.00010-8Mouse
Mittal 2011 HPB (Oxford)2011Mittal A, Hickey AJ, Chai CC, Loveday BP, Thompson N, Dare A, Delahunt B, Cooper GJ, Windsor JA, Phillips AR (2011) Early organ-specific mitochondrial dysfunction of jejunum and lung found in rats with experimental acute pancreatitis. HPB (Oxford) 13:332-41.RatHeart
Liver
Kidney
Islet cell;pancreas;thymus
Lotkova 2011 Gen Physiol Biophys2011Lotková H, Staňková P, Roušar T, Kučera O, Kohoutek L, Mičuda S, Brčáková E, Kolouchová G, Cervinková Z (2011) Deteriorating effect of fluvastatin on the cholestatic liver injury induced by bile duct ligation in rats. Gen Physiol Biophys 30:66-74.Rat
Van Bergen 2011 PLoS One2011Van Bergen NJ, Crowston JG, Kearns LS, Staffieri SE, Hewitt AW, Cohn AC, Mackey DA, Trounce IA (2011) Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy. PLoS One 6:e21347.HumanNervous system
Islet cell;pancreas;thymus
Nakamura 2011 J Biol Chem2011Nakamura K, Nemani VM, Azarbal F, Skibinski G, Levy JM, Egami K, Munishkina L, Zhang J, Gardner B, Wakabayashi J, Sesaki H, Cheng Y, Finkbeiner S, Nussbaum RL, Masliah E, Edwards RH (2011) Direct membrane association drives mitochondrial fission by the Parkinson disease-associated protein alpha-synuclein. J Biol Chem 286:20710-26.Mouse
Szendroedi 2011 Nat Rev Endocrinol2011Szendroedi J, Phielix E, Roden M (2011) The role of mitochondria in insulin resistance and type 2 diabetes mellitus. Nat Rev Endocrinol 8:92-103.Human
Lindfors 2011 Proc Natl Acad Sci U S A2011Lindfors C, Nilsson IA, Garcia-Roves PM, Zuberi AR, Karimi M, Donahue LR, Roopenian DC, Mulder J, Uhlen M, Ekstroem TJ, Davisson MT, Hoekfelt TG, Schalling M, Johansen JE (2011) Hypothalamic mitochondrial dysfunction associated with anorexia in the anx/anx mouse. Proc Natl Acad Sci U S A 108:18108-13.MouseNervous system
Heeman 2011 J Cell Sci2011Heeman B, Van den Haute C, Aelvoet SA, Valsecchi F, Rodenburg RJ, Reumers V, Debyser Z, Callewaert G, Koopman WJ, Willems PH, Baekelandt V (2011) Depletion of PINK1 affects mitochondrial metabolism, calcium homeostasis and energy maintenance. J Cell Sci 124:1115-25.Mouse
Mirowsky 2011 J Gerontol B Psychol Sci Soc Sci2011Mirowsky J (2011) Cognitive decline and the default American lifestyle. J Gerontol B Psychol Sci Soc Sci 66B(suppl_1):i50–i58.
Raboel 2010 Diabetes Obes Metab2010Raboel R, Boushel RC, Almdal T, Hansen CN, Ploug T, Haugaard SB, Prats C, Madsbad S, Dela F (2010) Opposite effects of pioglitazone and rosiglitazone on mitochondrial respiration in skeletal muscle of patients with type 2 diabetes. Diabetes Obes Metab 12:806-14.HumanSkeletal muscle
Baron 2010 Thesis2010Baron M (2010) Copy number variations of the mitochondrial DNA as potential cause of mitochondrial diseases. Thesis Rheinischen Friedrich-Wilhelms-Universitaet Bonn, Mathematisch-Naturwissenschaftlichen Fakultät, 110pp.HumanEndothelial;epithelial;mesothelial cell
Fibroblast
Kotarsky 2010 Mitochondrion2010Kotarsky H, Karikoski R, Mörgelin M, Marjavaara S, Bergman P, Zhang DL, Smet J, van Coster R, Fellman V (2010) Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation. Mitochondrion 10:497-509.HumanFibroblast
Lauritzen 2010 Mol Cell Biol2010Lauritzen KH, Moldestad O, Eide L, Carlsen H, Nesse G, Storm JF, Mansuy IM, Bergersen LH, Klungland A (2010) Mitochondrial DNA toxicity in forebrain neurons causes apoptosis, neurodegeneration, and impaired behavior. Mol Cell Biol 30:1357-67.MouseNervous system
Chowdhury 2010 Am J Physiol Endocrinol Metab2010Chowdhury SK, Sangle GV, Xie X, Stelmack GL, Halayko AJ, Shen GX (2010) Effects of extensively oxidized low-density lipoprotein on mitochondrial function and reactive oxygen species in porcine aortic endothelial cells. Am J Physiol Endocrinol Metab 298:E89-98.PigEndothelial;epithelial;mesothelial cell
Guillet 2010 Neurogenetics2010Guillet V, Gueguen N, Verny C, Ferre M, Homedan C, Loiseau D, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P, Chevrollier A (2010) Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease. Neurogenetics 11:127-33.HumanNervous system
Krebiehl 2010 PLoS One2010Krebiehl G, Ruckerbauer S, Burbulla LF, Kieper N, Maurer B, Waak J, Wolburg H, Gizatullina Z, Gellerich FN, Woitalla D, Riess O, Kahle PJ, Proikas-Cezanne T, Krueger R (2010) Reduced basal autophagy and impaired mitochondrial dynamics due to loss of Parkinson's disease-associated protein DJ-1. PLoS One 5:e9367.MouseFibroblast
Hey-Mogensen 2010 Diabetologia2010Hey-Mogensen M, Hojlund K, Vind BF, Wang L, Dela F, Beck-Nielsen H, Fernstroem M, Sahlin K (2010) Effect of physical training on mitochondrial respiration and reactive oxygen species release in skeletal muscle in patients with obesity and type 2 diabetes. Diabetologia 53:1976-85.HumanSkeletal muscle
Kane 2010 Free Radic Biol Med2010Kane DA, Anderson EJ, Price III JW, Woodlief TL, Lin C-T, Bikman BT, Cortright RN, Neufer PD (2010) Metformin selectively attenuates mitochondrial H2O2 emission without affecting respiratory capacity in skeletal muscle of obese rats. Free Radic Biol Med 49:1082–7.RatSkeletal muscle
Martin 2010 Proc Natl Acad Sci U S A2010Martin B, Ji S, Maudsley S, Mattson MP (2010) "Control" laboratory rodents are metabolically morbid: why it matters. Proc Natl Acad Sci U S A 107:6127-33.Human
Mouse
Rat
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Chowdhury 2010 Diabetes2010Chowdhury SK, Zherebitskaya E, Smith DR, Akude E, Chattopadhyay S, Jolivalt CG, Calcutt NA, Fernyhough P (2010) Mitochondrial respiratory chain dysfunction in dorsal root ganglia of streptozotocin-induced diabetic rats and its correction by insulin treatment. Diabetes 59:1082-91.RatNervous system
Casasnovas 2009 J Med Genet2010Casasnovas C, Banchs I, Cassereau J, Gueguen N, Chevrollier A, Martínez-Matos JA, Bonneau D, Volpini V (2010) Phenotypic spectrum of MFN2 mutations in the Spanish population. J Med Genet 47:249-56.HumanNervous system
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Gomez-Duran 2010 Hum Mol Genet2010Gómez-Durán A, Pacheu-Grau D, López-Gallardo E, Díez-Sánchez C, Montoya J, López-Pérez MJ, Ruiz-Pesini E (2010) Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups. Hum Mol Genet 19:3343-53.Human
Phielix 2010 Diabetologia2010Phielix E, Meex R, Moonen-Kornips E, Hesselink MK, Schrauwen P (2010) Exercise training increases mitochondrial content and ex vivo mitochondrial function similarly in patients with type 2 diabetes and in control individuals. Diabetologia 53:1714-21.HumanSkeletal muscle
Esteves 2010 J Neurochem2010Esteves AR, Lu J, Rodova M, Onyango I, Lezi E, Dubinsky R, Lyons KE, Pahwa R, Burns JM, Cardoso SM, Swerdlow RH (2010) Mitochondrial respiration and respiration-associated proteins in cell lines created through Parkinson's subject mitochondrial transfer. J Neurochem 113:674-82.HumanBlood cells
Platelet
Korsten 2010 Biochim Biophys Acta2010Korsten A, de Coo IF, Spruijt L, de Wit LE, Smeets HJ, Sluiter W (2010) Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylation. Biochim Biophys Acta 1797:197-203.HumanNervous system
Blood cells
Lymphocyte
Iyer 2009 Mitochondrion2009Iyer S, Thomas R, Portell F, Dunham L, Quigley C, Bennett JP (2009) Recombinant mitochondrial transcription factor A with N-terminal mitochondrial transduction domain increases respiration and mitochondrial gene expression. Mitochondrion 9:196-203.HumanSkeletal muscle
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Lim 2009 PlosOne2009Lim S, Ahn SY, Song IC, Chung MH, Jang HC, Park KS, Lee KU, Pak YK, Lee HK (2009) Chronic exposure to the herbicide, atrazine, causes mitochondrial dysfunction and insulin resistance. PLoS One 4:e5186.RatSkeletal muscle
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Keeney 2009 Exp Neurol2009Keeney PM, Dunham LD, Quigley CK, Morton SL, Bergquist KE, Bennett JP (2009) Cybrid models of Parkinson's disease show variable mitochondrial biogenesis and genotype-respiration relationships. Exp Neurol 220:374-82.HumanBlood cells
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Mantena 2009 Biochem J2009Mantena SK, Vaughn Jr DP, Andringa KK, Eccleston HB, King AL, Abrams GA, Doeller JE, Kraus DW, Darley-Usmar V, Bailey SM (2009) High fat diet induces dysregulation of hepatic oxygen gradients and mitochondrial function in vivo. Biochem J 417:183–93.MouseLiver
Raboel 2009 Diabetes Obes Metab2009Raboel R, Hojberg PM, Almdal T, Boushel RC, Haugaard SB, Madsbad S, Dela F (2009) Improved glycaemic control decreases inner mitochondrial membrane leak in type 2 diabetes. Diabetes Obes Metab 11:355-60.HumanSkeletal muscle
Jones 2009 Exp Neurol2009Jones TT, Brewer GJ (2009) Critical age-related loss of cofactors of neuron cytochrome c oxidase reversed by estrogen. Exp Neurol 215:212-9.RatNervous system
Anderson 2009 J Am Coll Cardiol2009Anderson EJ, Kypson AP, Rodriguez E, Anderson CA, Lehr EJ, Neufer PD (2009) Substrate-specific derangements in mitochondrial metabolism and redox balance in the atrium of the type 2 diabetic human heart. J Am Coll Cardiol 54:1891-8.HumanHeart
Jesse 2009 CNS Neurosci Ther2009Jesse S, Steinacker P, Lehnert S, Gillardon F, Hengerer B, Otto M (2009) Neurochemical approaches in the laboratory diagnosis of Parkinson and Parkinson dementia syndromes: a review. CNS Neurosci Ther 15:157-82.
Lancel 2009 J Pharmacol Exp Ther2009Lancel S, Hassoun SM, Favory R, Decoster B, Motterlini R, Neviere R (2009) Carbon monoxide rescues mice from lethal sepsis by supporting mitochondrial energetic metabolism and activating mitochondrial biogenesis. J Pharmacol 329:641-48.MouseHeart
Moisoi 2009 Cell Death Differ2009Moisoi N, Klupsch K, Fedele V, East P, Sharma S, Renton A, Plun-Favreau H, Edwards RE, Teismann P, Esposti MD, Morrison AD, Wood NW, Downward J, Martins LM (2009) Mitochondrial dysfunction triggered by loss of HtrA2 results in the activation of a brain-specific transcriptional stress response. Cell Death Differ 16:449-64.MouseNervous system
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Nochez 2009 Mol Vis2009Nochez Y, Arsene S, Gueguen N, Chevrollier A, Ferré M, Guillet V, Desquiret V, Toutain A, Bonneau D, Procaccio V, Amati-Bonneau P, Pisella PJ, Reynier P (2009) Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect. Mol Vis 15:598-608.HumanFibroblast
Cassereau 2009 Neurogenetics2009Cassereau J, Chevrollier A, Gueguen N, Malinge MC, Letournel F, Nicolas G, Richard L, Ferre M, Verny C, Dubas F, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P (2009) Mitochondrial Complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). Neurogenetics 10:145-50.HumanNervous system
Myhill 2009 Int J Clin Exp Med2009Myhill S, Booth NE, McLaren-Howard J (2009) Chronic fatigue syndrome and mitochondrial dysfunction. Int J Clin Exp Med 2:1-16.
Monge 2008 Mol Cell Biochem2008Monge C, Beraud N, Kuznetsov AV, Rostovtseva T, Sackett D, Schlattner U, Vendelin M, Saks V (2008) Regulation of respiration in brain mitochondria and synaptosomes: restrictions of ADP diffusion in situ, roles of tubulin, and mitochondrial creatine kinase. Mol Cell Biochem 318:147-65.RatNervous system
Gruno 2008 J Gastroenterol2008Gruno M, Peet N, Tein A, Salupere R, Sirotkina M, Valle J, Peetsalu A, Seppet EK (2008) Atrophic gastritis: deficient complex I of the respiratory chain in the mitochondria of corpus mucosal cells. J Gastroenterol 43:780-8.HumanEndothelial;epithelial;mesothelial cell
Hansson 2008 Free Radic Biol Med2008Hansson Magnus J, Månsson R, Morota S, Uchino H, Kallur T, Sumi T, Ishii N, Shimazu M, Keep MF, Jegorov A, Elmér E (2008) Calcium-induced generation of reactive oxygen species in brain mitochondria is mediated by permeability transition. Free Radic Biol Med 45:284-94.RatNervous system
Liver
Rauchova 2008 J Bioenerg Biomembr2008Rauchova H, Drahota Z, Bergamini C, Fato R, Lenaz G (2008) Modification of respiratory-chain enzyme activities in brown adipose tissue mitochondria by idebenone (hydroxydecyl-ubiquinone). J Bioenerg Biomembr 40:85-93.
Hein 2008 Hum Mol Genet2008Hein S, Schönfeld P, Kahlert S, Reiser G (2008) Toxic effects of X-linked adrenoleukodystrophy-associated, very long chain fatty acids on glial cells and neurons from rat hippocampus in culture. Hum Mol Genet 17:1750-61.RatNervous system
Iyer 2008 Nature Precedings2008Iyer S, Thomas R, Portell F, Dunham L, Quigley C, Bennett JP (2008) Recombinant mitochondrial transcription factor A with N-terminal mitochondrial transduction domain increases respiration and mitochondrial gene expression in G11778A leber’s hereditary optic neuropathy cybrid cells. Nature Precedings: hdl:10101/npre.2008.2084.1Nervous system
Juellig 2008 Proteomics2008Jüllig M, Hickey AJ, Chai CC, Skea GL, Middleditch MJ, Costa S, Choong SY, Philips AR, Cooper GJ (2008) Is the failing heart out of fuel or a worn engine running rich? A study of mitochondria in old spontaneously hypertensive rats. Proteomics 8:2556-72.RatHeart
Haas 2008 Mol Genet Metab2008Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Wong LJ, Cohen BH, Naviaux RK (2008) The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab 94:16-37.Nervous system
Kuzelova 2008 Gen Physiol Biophys2008Kuzelova M, Adameova A, Sumbalova Z, Paulikova I, Harcarová A, Svec P, Kucharska J. (2008) The effect of simvastatin on coenzyme Q and antioxidant/oxidant balance in diabetic-hypercholesterolaemic rats. Gen Physiol Biophys. 27:291-8.RatHeart
Liver
Blakely 2006 Pediatr Res2006Blakely EL, Rennie KJ, Jones L, Elstner M, Chrzanowska-Lightowlers ZMA, White CB, Shield JPH, Pilz DT, Turnbull DM, Poulton J, Taylor RW (2006) Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis. Pediatr Res 59:440-4.HumanFibroblast
Raboel 2006 Appl Physiol Nutr Metab2006Raboel R, Boushel RC, Dela F (2006) Mitochondrial oxidative function and type 2 diabetes. Appl Physiol Nutr Metab 31:675-83.HumanSkeletal muscle
Honzik 2006 Placenta2006Honzik T, Drahota Z, Bohm M, Jesina P, Mracek T, Paul J, Zeman J, Houstek J (2006) Specific properties of heavy fraction of mitochondria from human-term placenta - Glycerophosphate-dependent hydrogen peroxide production. Placenta 27:348-56.Human
Miller 2006 FEBS Lett2006Miller I, Gemeiner M, Gesslbauer B, Kungl A, Piskernik C, Haindl S, Nürnberger S, Bahrami Sl, Redl H, Kozlov AV (2006) Proteome analysis of rat liver mitochondria reveals a possible compensatory response to endotoxic shock. FEBS Lett 580:1257-62.RatLiver
Deschauer 2006 Mol Genet Metab2006Deschauer M, Gizatullina Z, Schulze A, Pritsch M, Knöppel C, Knape M, Zierz S, Gellerich FN (2006) Molecular and biochemical investigations in fumarase deficiency. Mol Genet Metab 88:146-52.HumanFibroblast
Larche 2006 J Am Coll Cardiol2006Larche J, Lancel S, Hassoun SM, Favory R, Decoster B, Marchetti P, Chopin C, Neviere R (2006) Inhibition of mitochondrial permeability transition prevents sepsis-induced myocardial dysfunction and mortality. J Am Coll Cardiol 48:377-85.Human
Mouse
Heart
Kasparova 2006 Neurochem Int2006Kasparová S, Sumbalová Z, Bystrický P, Kucharská J, Liptaj T, Mlynárik V, Gvozdjáková A (2006) Effect of coenzyme Q10 and vitamin E on brain energy metabolism in the animal model of Huntington's disease. Neurochem Int 48:93-9.RatNervous system
Winkler-Stuck 2005 J Neural Transm2005Winkler-Stuck K, Kirches E, Mawrin C, Dietzmann K, Lins H, Wallesch CW, Kunz WS, Wiedemann FR (2005) Re-evaluation of the dysfunction of mitochondrial respiratory chain in skeletal muscle of patients with Parkinson's disease. J Neural Transm 112:499-518.HumanSkeletal muscle
Oezen 2005 Hum Mol Genet2005Oezen I, Rossmanith W, Forss-Petter S, Kemp S, Voigtlander T, Moser-Thier K, Wanders RJA, Bittner RE, Berger J (2005) Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency. Hum Mol Genet 14:1127-37.Human
Mouse
Skeletal muscle
Nervous system
Fibroblast
Pecina 2004 Am J Physiol Cell Physiol2004Pecina P, Gnaiger E, Zeman J, Pronicka E, Houstek J (2004) Decreased affinity to oxygen of cytochrome c oxidase in Leigh syndrome caused by SURF1 mutations. Am J Physiol Cell Physiol 287:C1384-8.HumanFibroblast
Pecina 2004 Physiol Res2004Pecina P, Houstkova H, Hansikova H, Zeman J, Houstek J (2004) Genetic defects of cytochrome c oxidase assembly. Physiol Res 53 Suppl 1:S213-23.HumanSkeletal muscle
Fibroblast
Gellerich 2004 Mol Cell Biochem2004Gellerich FN, Trumbeckaite S, Müller T, Deschauer M, Chen Y, Gizatullina Z, Zierz S (2004) Energetic depression caused by mitochondrial dysfunction. Mol Cell Biochem 256/257:391-405.
Winkler-Stuck 2004 J Neurol Sci2004Winkler-Stuck K, Wiedemann FR, Wallesch CW, Kunz WS (2004) Effect of coenzyme Q10 on the mitochondrial function of skin fibroblasts from Parkinson patients. J Neurol Sci 220:41-8.HumanFibroblast
Jesina 2004 Biochem J2004Jesina P, Tesarova M, Fornuskova D, Vojtiskova A, Pecina P, Kaplanova V, Hansikova H, Zeman J, Houstek J (2004) Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206. Biochem J 383:561-71.HumanFibroblast
Wenchich 2003 Physiol Res2003Wenchich L, Drahota Z, Honzík T, Hansíková H, Tesarová M, Zeman J, Houstek J (2003) Polarographic evaluation of mitochondrial enzymes activity in isolated mitochondria and in permeabilized human muscle cells with inherited mitochondrial defects. Physiol Res 52:781-88.HumanSkeletal muscle
Pecina 2003 Biochim Biophys Acta2003Pecina P, Capkova M, Chowdhury SK, Drahota Z, Dubot A, Vojtiskova A, Hansikova H, Houstekova H, Zeman J, Godinot C, Houstek J (2003) Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome. Biochim Biophys Acta 1639:53-63.HumanEndothelial;epithelial;mesothelial cell
Fibroblast
Vielhaber 2003 Epilepsia2003Vielhaber S, Von Oertzen JH, Kudin AF, Schoenfeld A, Menzel C, Biersack HJ, Kral T, Elger CE, Kunz WS (2003) Correlation of hippocampal glucose oxidation capacity and interictal FDG-PET in temporal lobe epilepsy. Epilepsia 44:193-9.HumanNervous system
Kudin 2002 Eur J Neurosci2002Kudin AP, Kudina TA, Seyfried J, Vielhaber S, Beck H, Elger CE, Kunz WS (2002) Seizure-dependent modulation of mitochondrial oxidative phosphorylation in rat hippocampus. Eur J Neurosci 15:1105-14.RatNervous system
Varlamov 2002 Hum Mol Genet2002Varlamov DA, Kudin AP, Vielhaber S, Schroder R, Sassen R, Becker A, Kunz D, Haug K, Rebstock J, Heils A, Elger CE, Kunz WS (2002) Metabolic consequences of a novel missense mutation of the mtDNA CO I gene. Hum Mol Genet 11:1797-805.HumanSkeletal muscle
Braun 2001 Biochim Biophys Acta2001Braun U, Paju K, Eimre M, Seppet E, Orlova E, Kadaja L, Trumbeckaite S, Gellerich FN, Zierz S, Jockusch H, Seppet EK (2001) Lack of dystrophin is associated with altered integration of the mitochondria and ATPases in slow-twitch muscle cells of MDX mice. Biochim Biophys Acta 1505:258-70.MouseHeart
Skeletal muscle
Vielhaber 2000 Biochem Soc Trans2000Vielhaber S, Kudin A, Schroder R, Elger CE, Kunz WS (2000) Muscle fibres: applications for the study of the metabolic consequences of enzyme deficiencies in skeletal muscle. Biochem Soc Trans 28:159-64.HumanSkeletal muscle
Kunz 2000 Ann Neurol2000Kunz WS, Kudin AP, Vielhaber S, Blumecke I, Zuschratter W, Schramm J, Beck H, Elger CE (2000) Mitochondrial complex I deficiency in the epileptic focus of patients with temporal lobe epilepsy. Ann Neurol 48:766-73.HumanNervous system
Kemp 2000 Thermochim Acta (Vol 355)2000Kemp RB (2000) "Fire burn and cauldron bubble" (W. Shakespeare): what the calorimetric-respirometric (CR) ratio does for our understanding of cells? Thermochim Acta 355:115-24.
Oexle 1999 Biochim Biophys Acta1999Oexle H, Gnaiger E, Weiss G (1999) Iron-dependent changes in cellular energy metabolism: influence on citric acid cycle and oxidative phosphorylation. Biochim Biophys Acta 1413:99-107.HumanBlood cells
Vielhaber 1999 J Neurol Sci1999Vielhaber S, Winkler K, Kirches E, Kunz D, Büchner M, Feistner H, Elger CE, Ludolph AC, Riepe MW, Kunz WS (1999) Visualization of defective mitochondrial function in skeletal muscle fibers of patients with sporadic amyotrophic lateral sclerosis. J Neurol Sci 169:133-9.HumanSkeletal muscle
Nervous system
Wiedemann 1998 J Neurol Sci1998Wiedemann FR, Winkler K, Kuznetsov AV, Bartels C, Vielhaber S, Feistner H, Kunz WS (1998) Impairment of mitochondrial function in skeletal muscle of patients with amyotrophic lateral sclerosis. J Neurol Sci 156:65-72.HumanSkeletal muscle
Kirches 1998 J Inherit Metab Dis1998Kirches EJF, Winkler K, Warich-Kirches M, Szibor R, Wien F, Kunz WS, von Bossanyi P, Bajaj PK, Dietzmann K (1998) mtDNA depletion and impairment of mitochondrial function in a case of a multisystem disorder including severe myopathy. J Inherit Metab Dis 21:400-8.HumanSkeletal muscle
Halangk 1997 Zentralbl Chir1997Halangk W, Matthias R, Nedelev B, Schild L, Meyer F, Schulz H-U, Lippert H (1997) Beeinträchtigung der Energiebereitstellung von Pankreasmitochondrien bei experimenteller akuter Pankreatitis. Zentralbl Chir 122:305-8.
Kuznetsov 1997 Biochim Biophys Acta1997Kuznetsov AV, Winkler K, Kirches E, Lins H, Feistner H, Kunz WS (1997) Application of inhibitor titrations for the detection of oxidative phosphorylation defects in saponin-skinned muscle fibers of patients with mitochondrial diseases. Biochim Biophys Acta 1360:142-50.Skeletal muscle
Kunz 1997 Anal Biochem1997Kunz D, Luley C, Winkler K, Lins H, Kunz WS (1997) Flow cytometric detection of mitochondrial dysfunction in subpopulations of human mononuclear cells. Anal Biochem 246:218-24.Blood cells
Lymphocyte
Kunz 1997 Mol Cell Biochem1997Kunz WS, Winkler K, Kuznetsov AV, Lins H, Kirches E, Wallesch CW (1997) Detection of mitochondrial defects by laser fluorimetry. Mol Cell Biochem 174:97-100.HumanSkeletal muscle
Kirches 1996 Saponin1996Kirches E, Winkler K, Kuznetsov AV, Lins H, von Bossanyi P, Dietzmann K, Frank B, Feistner H, Kunz WS (1996) Laserfluoreszenz-Studien der Mitochondrienfunktion in Saponin-permeabilisierten Skelettmuskelfasern von Patienten mit chronisch progressiver externer Ophthalmoplegie. Jahrb Neuromusk Erkrankungen 1996, Arcis Verlag:166-9.HumanSkeletal muscle
Winkler 1995 Biochim Biophys Acta1995Winkler K, Kuznetsov AV, Lins H, Kirches E, von Bossanyi P, Dietzmann K, Frank B, Feistner H, Kunz WS (1995) Laser-excited fluorescence studies of mitochondrial function in saponin-skinned skeletal muscle fibers of patients with chronic progressive external ophthalmoplegia. Biochim Biophys Acta 1272:181-4.HumanSkeletal muscle
Kunz 1995 Biochem Mol Med1995Kunz D, Luley C, Fritz S, Bohnensack R, Winkler K, Kunz WS, Wallesch CW (1995) Oxygraphic evaluation of mitochondrial function in digitonin-permeabilized mononuclear cells and cultured skin fibroblasts of patients with chronic progressive external ophthalmoplegia. Biochem Mol Med 54:105-11.Human
Sperl 1994 J Inher Metab Dis1994Sperl W, Skladal D, Lanznaster N, Schranzhofer R, Zaunschirm G, Gnaiger E, Gellerich FN (1994) Polarographic studies of saponin-skinned muscle fibers in patients with mitochondrial myopathies. J Inher Metab Dis 17:307-10.HumanSkeletal muscle
Kuznetsov 1994 BTK-2751994
BTK1994
Kuznetsov AV, Clark JF, Winkler K, Kunz WS (1994) Change in flux control coefficient of cytochrome c oxidase in copper deficient mottled brindled mice. In: What is Controlling Life? (Gnaiger E, Gellerich FN, Wyss M, eds) Modern Trends in BioThermoKinetics 3. Innsbruck Univ Press:275-77.
O2k-Publications in the MiPMap

O2k-Publications: Mitochondrial Disease; Degenerative Disease and Defect - Abstracts

Sort in ascending/descending order by a click on one of the small symbols in squares below.
 YearReferenceOrganismTissue;cell
Pegoraro 2024 Adv Drug Deliv RevPegoraro C, Domingo I, Conejos-Sánchez I, Vicent MJ (2024) Unlocking the mitochondria for nanomedicine-based treatments: overcoming biological barriers, improving designs, and selecting verification techniques.
Aasander Frostner 2022 BECÅsander Frostner E, Simón Serrano S, Chamkha I, Donnelly E, Elmér E, Hansson MJ (2022) Towards a treatment for mitochondrial disease: current compounds in clinical development. Bioenerg Commun 2022.4. https://doi.org/10.26124/bec:2022-0004Human
Zhou 2022 J Hum GenetZhou X, Lou X, Zhou Y, Xie Y, Han X, Dong Q, Ying X, Laurentinah MR, Zhang L, Chen Z, Li D, Fang H, Lyu J, Yang Y, Wang Y (2022) Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency. https://doi.org/10.1038/s10038-022-01102-4HumanLymphocyte
Adant 2022 Mol MetabAdant I, Bird M, Decru B, Windmolders P, Wallays M, de Witte P, Rymen D, Witters P, Vermeersch P, Cassiman D, Ghesquière B (2022) Pyruvate and uridine rescue the metabolic profile of OXPHOS dysfunction. https://doi.org/10.1016/j.molmet.2022.101537HumanFibroblast
Belal 2022 BiomedicinesBelal S, Goudenège D, Bocca C, Dumont F, Chao De La Barca JM, Desquiret-Dumas V, Gueguen N, Geffroy G, Benyahia R, Kane S, Khiati S, Bris C, Aranyi T, Stockholm D, Inisan A, Renaud A, Barth M, Simard G, Reynier P, Letournel F, Lenaers G, Bonneau D, Chevrollier A, Procaccio V (2022) Glutamate-induced deregulation of krebs cycle in mitochondrial encephalopathy lactic acidosis syndrome stroke-like episodes (MELAS) syndrome is alleviated by ketone body exposure. https://doi.org/10.3390/biomedicines10071665HumanNeuroblastoma
Schober 2022 Hum Mol GenetSchober FA, Tang JX, Sergeant K, Moedas MF, Zierz CM, Moore D, Smith C, Lewis D, Guha N, Hopton S, Falkous G, Lam A, Pyle A, Poulton J, Gorman GS, Taylor RW, Freyer C, Wredenberg A (2022) Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease. https://doi.org/10.1093/hmg/ddac002Mouse
Drosophila
Fibroblast
Spielmann 2022 Mamm GenomeSpielmann N, Schenkl C, Komlódi T, da Silva-Buttkus P, Heyne E, Rohde J, Amarie OV, Rathkolb B, Gnaiger E, Doenst T, Fuchs H, Gailus-Durner V, de Angelis MH, Szibor M (2022) Knockout of the Complex III subunit Uqcrh causes bioenergetic impairment and cardiac contractile dysfunction. Mamm Genome 10.1007/s00335-022-09973-wMouseHeart
Munoz-Pujol 2022 Brain PatholMuñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou C, Ugarteburu O, Gort L, Yubero D, García-Cazorla A, O'Callaghan M, Campistol J, Muchart J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch R, Ribes A, Urreizti R, Tort F (2022) Leigh syndrome is the main clinical characteristic of PTCD3 deficiency. https://doi.org/10.1111/bpa.13134HumanFibroblast
Lee 2022 Hum Mol GenetLee RG, Balasubramaniam S, Stentenbach M, Kralj T, McCubbin T, Padman B, Smith J, Riley LG, Priyadarshi A, Peng L, Nuske MR, Webster R, Peacock K, Roberts P, Stark Z, Lemire G, Ito YA; Care4Rare Canada Consortium, Boycott KM, Geraghty MT, van Klinken JB, Ferdinandusse S, Zhou Y, Walsh R, Marcellin E, Thorburn DR, Rosciolli T, Fletcher J, Rackham O, Vaz FM, Reid GE, Filipovska A (2022) Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease. https://doi.org/10.1093/hmg/ddac040HumanFibroblast
Aasander Frostner 2022 MitoFitÅsander Frostner E, Simón Serrano S, Chamkha I, Donnelly E, Elmér E, Hansson MJ (2022) Towards a treatment for mitochondrial disease: current compounds in clinical development. https://doi.org/10.26124/mitofit:2022-00142022-06-28 published in Bioenerg Commun 2022.4.Human
Zhao 2022 J Cell SciZhao Q, Yan S, Lu J, Parker DJ, Wu H, Sun Q, Crossman DK, Liu S, Wang Q, Sesaki H, Mitra K, Liu K, Jiao K (2022) Drp1 regulates transcription of ribosomal protein genes in embryonic hearts. https://doi.org/10.1242/jcs.258956MouseHeart
Cretin 2021 EMBO Mol MedCretin E, Lopes P, Vimont E, Tatsuta T, Langer T, Gazi A, Sachse M, Yu-Wai-Man P, Reynier P, Wai T (2021) High-throughput screening identifies suppressors of mitochondrial fragmentation in OPA1 fibroblasts. EMBO Mol Med 13:13579.MouseFibroblast
Sun 2021 J Genet GenomicsSun Y, Wei X, Fang F, Shen Y, Wei H, Li J, Ye X, Zhan Y, Ye X, Liu X, Yang W, Li Y, Geng X, Huang X, Ruan Y, Qin Z, Yi S, Lyu J, Fang H, Yu Y (2021) HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration. J Genet Genomics 48:727-36.HumanHeLa
Lymphocyte
Acin-Perez 2021 Life (Basel)Acin-Perez R, Benincá C, Shabane B, Shirihai OS, Stiles L (2021) Utilization of human samples for assessment of mitochondrial bioenergetics: gold standards, limitations, and future perspectives. Life (Basel) 11:949. doi: 10.3390/life11090949HumanSkeletal muscle
Blood cells
Fibroblast
Platelet
Inak 2021 Nat CommunInak G, Rybak-Wolf A, Lisowski P, Pentimalli TM, Jüttner R, Glažar P, Uppal K, Bottani E, Brunetti D, Secker C, Zink A, Meierhofer D, Henke MT, Dey M, Ciptasari U, Mlody B, Hahn T, Berruezo-Llacuna M, Karaiskos N, Di Virgilio M, Mayr JA, Wortmann SB, Priller J, Gotthardt M, Jones DP, Mayatepek E, Stenzel W, Diecke S, Kühn R, Wanker EE, Rajewsky N, Schuelke M, Prigione A (2021) Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome. Nat Commun 12:1929.Nervous system
Gueguen 2021 Methods Mol BiolGueguen N, Lenaers G, Reynier P, Weissig V, Edeas M (2021) Mitochondrial dysfunction in mitochondrial medicine: current limitations, pitfalls, and tomorrow. https://doi.org/10.1007/978-1-0716-1266-8_1
Friederich 2021 Mol Genet MetabFriederich MW, Geddes GC, Wortmann SB, Punnoose A, Wartchow E, Knight KM, Prokisch H, Creadon-Swindell G, Mayr JA, Van Hove JLK (2021) Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect. Mol Genet Metab 133:362-71.HumanFibroblast
Purhonen 2020 Nat CommunPurhonen J, Grigorjev V, Ekiert R, Aho N, Rajendran J, Pietras R, Truvé K, Wikström M, Sharma V, Osyczka A, Fellman V, Kallijärvi J (2020) A spontaneous mitonuclear epistasis converging on Rieske Fe-S protein exacerbates complex III deficiency in mice. Nat Commun 11:322.MouseLiver
Kidney
Burgin 2020 Int J Mol SciBurgin HJ, Lopez Sanchez MIG, Smith CM, Trounce IA, McKenzie M (2020) Pioglitazone and deoxyribonucleoside combination treatment increases mitochondrial respiratory capacity in m.3243A>G MELAS cybrid cells. Int J Mol Sci 21:E2139.HumanOther cell lines
Hassan 2020 MitoFit Preprint ArchHassan Hazirah, Gnaiger Erich, Zakaria Fazaine, Makpol Suzana, Abdul Karim Norwahidah (2020) Alterations in mitochondrial respiratory capacity and membrane potential: a link between mitochondrial dysregulation and autism. https://doi.org/10.26124/mitofit:200003Human
Frambach 2020 Biochim Biophys Acta Mol Basis DisFrambach SJCM, van de Wal MAE, van den Broek PHH, Smeitink JAM, Russel FGM, de Haas R, Schirris TJJ (2020) Effects of clofibrate and KH176 on life span and motor function in mitochondrial complex I-deficient mice. Biochim Biophys Acta Mol Basis Dis 1866:165727.MouseSkeletal muscle
Kawamura 2021 Mol Ther Nucleic AcidsKawamura E, Maruyama M, Abe J, Sudo A, Takeda A, Takada S, Yokota T, Kinugawa S, Harashima H, Yamada Y (2021) Validation of gene therapy for mutant mitochondria by delivering mitochondrial RNA using a MITO-porter. Mol Ther Nucleic Acids 20:687-98.HumanFibroblast
Ferreira 2020 PLoS GenetFerreira N, Andoniou CE, Perks KL, Ermer JA, Rudler DL, Rossetti G, Periyakaruppiah A, Wong JKY, Rackham O, Noakes PG, Degli-Esposti MA, Filipovska A (2020) Murine cytomegalovirus infection exacerbates complex IV deficiency in a model of mitochondrial disease. PLoS Genet 16:e1008604.MouseLiver
Wei 2020 Hum MutatWei X, Du M, Li D, Wen S, Xie J, Li Y, Chen A, Zhang K, Xu P, Jia M, Wen C, Zhou H, Lyu J, Yang Y, Fang H (2020) Mutations in FASTKD2 are associated with mitochondrial disease with multi-OXPHOS deficiency. Hum Mutat 41:961-72.HumanLymphocyte
Chen 2020 Mol Genet Genomic MedChen D, Zhao Q, Xiong J, Lou X, Han Q, Wei X, Xie J, Li X, Zhou H, Shen L, Yang Y, Fang H, Lyu J (2020) Systematic analysis of a mitochondrial disease-causing ND6 mutation in mitochondrial deficiency. Mol Genet Genomic Med 8:e1199.HumanLymphocyte
Itkis 2019 MitochondrionItkis Y, Krylova T, Pechatnikova NL, De Grassi A, Tabakov VY, Pierri CL, Aleshin V, Boyko A, Bunik VI, Zakharova EY (2019) A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent. Mitochondrion 47:10-17.HumanFibroblast
Germain 2019 Int J Med SciGermain N, Dessein AF, Vienne JC, Dobbelaere D, Mention K, Joncquel M, Dekiouk S, Laine W, Kluza J, Marchetti P (2019) First-line screening of OXPHOS deficiencies using microscale oxygraphy in human skin fibroblasts: A preliminary study. Int J Med Sci 16:931-38.HumanFibroblast
Repp 2019 ThesisRepp BM (2019) Identification and verification of novel disease-causing genes and therapy options for patients with mitochondrial disorders – Focus on ACAD9. PhD Thesis 178.HumanHEK
Friederich 2019 Mol Genet MetabFriederich MW, Perez FA, Knight KM, Van Hove RA, Yang SP, Saneto RP, Van Hove JLK (2019) Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement. Mol Genet Metab 129:236-42.HumanFibroblast
Gaudo 2019 NeurogeneticsGaudó P, Emperador S, Garrido-Pérez N, Ruiz-Pesini E, Yubero D, García-Cazorla A, Artuch R, Montoya J, Bayona-Bafaluy MP (2019) Infectious stress triggers a POLG-related mitochondrial disease. Neurogenetics 21:19-27.HumanFibroblast
Rajendran 2019 EMBO Mol MedRajendran J, Purhonen J, Tegelberg S, Smolander OP, Mörgelin M, Rozman J, Gailus-Durner V, Fuchs H, Hrabe de Angelis M, Auvinen P, Mervaala E, Jacobs HT, Szibor M, Fellman V, Kallijärvi J (2019) Alternative oxidase-mediated respiration prevents lethal mitochondrial cardiomyopathy. EMBO Mol Med 11:e9456.MouseLiver
Kidney
Heart
Alston 2018 Am J Hum GenetAlston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C, French CE, Glasgow RIC, Feichtinger RG, Delon I, Pagnamenta AT, Dolling H, Lemonde H, Aiton N, Bjørnstad A, Henneke L, Gärtner J, Thiele H, Tauchmannova K, Quaghebeur G, Houstek J, Sperl W, Raymond FL, Prokisch H, Mayr JA, McFarland R, Poulton J, Ryan MT, Wittig I, Henneke M, Taylor RW (2018) Bi-allelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency. Am J Hum Genet 103:592-601.HumanFibroblast
Jia 2018 Circ ResJia G, Hill MA, Sowers JR (2018) Diabetic cardiomyopathy: an update of mechanisms contributing to this clinical entity. Circ Res 122:624–38.HumanHeart
Becker 2018 EMBO RepBecker C, Kukat A, Szczepanowska K, Hermans S, Senft K, Brandscheid CP, Maiti P, Trifunovic A (2018) CLPP deficiency protects against metabolic syndrome but hinders adaptive thermogenesis. EMBO Rep 19. pii: e45126.MouseLiver
Fat
Sprenger 2018 EMBO Mol MedSprenger HG, Wani G, Hesseling A, König T, Patron M, MacVicar T, Ahola S, Wai T, Barth E, Rugarli EI, Bergami M, Langer T (2018) Loss of the mitochondrial i-AAA protease YME1L leads to ocular dysfunction and spinal axonopathy. EMBO Mol Med 11:e9288.MouseNervous system
Boutoual 2018 Scientific ReportsBoutoual, R., Meseguer, S., Villarroya, M., Martin-Hernandez, E., Errami, M., Martin, M. A., Casado, M., and Armengod, M. E. (2018) Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARgamma-UCP2-AMPK axis. Scientific reports 8, 1163HumanOther cell lines
Fibroblast
Kauppila 2018 ThesisKauppila JHK (2018) Generating mammalian mitochondrial disease models with mitochondrial DNA mutations. PhD Thesis p120.MouseHeart
Liver
Li 2018 GeneLi Y, Wen S, Li D, Xie J, Wei X, Li X, Liu Y, Fang H, Yang Y, Lyu J (2018) SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences. Gene 674:15-24.HumanBlood cells
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Dogan 2018 Cell MetabDogan SA, Cerutti R, Benincá C, Brea-Calvo G, Jacobs HT, Zeviani M, Szibor M, Viscomi C (2018) Perturbed redox signaling exacerbates a mitochondrial myopathy. Cell Metab 28:764-77.MouseSkeletal muscle
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Westerlund 2017 Pediatr ResWesterlund E, Marelsson SE, Ehinger JK, Sjövall F, Morota S, Åsander Frostner E, Oldfors A, Darin N, Lundgren J, Hansson MJ, Fellman V, Elmér E (2017) Oxygen consumption in platelets as an adjunct diagnostic method for pediatric mitochondrial disease. Pediatr Res 83:455-65.HumanPlatelet
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Richman 2016 Nat CommunRichman TR, Spåhr H, Ermer JA, Davies SM, Viola HM, Bates KA, Papadimitriou J, Hool LC, Rodger J, Larsson NG, Rackham O, Filipovska A (2016) Loss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in mice. Nat Commun 7:11884.MouseHeart
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Ehinger 2016 Nat CommunEhinger JK, Piel S, Ford R, Karlsson M, Sjövall F, Frostner EÅ, Morota S, Taylor RW, Turnbull DM, Cornell C, Moss SJ, Metzsch C, Hansson MJ, Fliri H, Elmér E (2016) Cell-permeable succinate prodrugs bypass mitochondrial Complex I deficiency. Nat Commun 7:12317. https://doi.org/10.1038/ncomms12317Heart
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Koopman 2016 EMBO Mol MedKoopman WJ, Beyrath J, Fung CW, Koene S, Rodenburg RJ, Willems PH, Smeitink JA (2016) Mitochondrial disorders in children: toward development of small-molecule treatment strategies. EMBO Mol Med 8:311-27.
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Richman 2015 PLoS GenetRichman TR, Ermer JA, Davies SM, Perks KL, Viola HM, Shearwood AM, Hool LC, Rackham O, Filipovska A (2015) Mutation in MRPS34 compromises protein synthesis and causes mitochondrial dysfunction. PLoS Genet 11:e1005089.MouseHeart
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Blanchet 2015 Sci RepBlanchet L, Smeitink JA, van Emst-de Vries SE, Vogels C, Pellegrini M, Jonckheere AI, Rodenburg RJ, Buydens LM, Beyrath J, Willems PH, Koopman WJ (2015) Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning. Sci Rep 5:8035.HumanEndothelial;epithelial;mesothelial cell
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Hejzlarova 2015 Biochem JHejzlarová K, Kaplanová V, Nůsková H, Kovářová N, Ješina P, Drahota Z, Mráček T, Seneca S, Houštěk J (2015) Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of Fo-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation. Biochem J 466:601-11.HumanOther cell lines
Leman 2015 Int J Biochem Cell BiolLeman G, Gueguen N, Desquiret-Dumas V, Kane MS, Wettervald C, Chupin S, Chevrollier A, Lebre AS, Bonnefont JP, Barth M, Amati-Bonneau P, Verny C, Henrion D, Bonneau D, Reynier P, Procaccio V (2015) Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency. Int J Biochem Cell Biol 65:91-103.HumanEndothelial;epithelial;mesothelial cell
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Antoun 2015 JIMD RepAntoun G, McBride S, Vanstone JR, Naas T, Michaud J, Redpath S, McMillan HJ, Brophy J, Daoud H, Chakraborty P, Dyment D, Holcik M, Harper ME, Lines MA (2015) Detailed biochemical and bioenergetic characterization of FBXL4-related encephalomyopathic mitochondrial DNA depletion. JIMD Rep 27:1-9.HumanSkeletal muscle
Pulliam 2014 Biochem JPulliam DA, Deepa SS, Liu Y, Hill S, Lin AL, Bhattacharya A, Shi Y, Sloane L, Viscomi C, Zeviani M, Van Remmen H (2014) Complex IV-deficient Surf1(-/-) mice initiate mitochondrial stress responses. Biochem J 462:359-71.MouseHeart
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Schlagowski 2014 J Appl PhysiolSchlagowski AI, Singh F, Charles AL, Gali Ramamoorthy T, Favret F, Piquard F, Geny B, Zoll J (2014) Mitochondrial uncoupling reduces exercise capacity despite several skeletal muscle metabolic adaptations. J Appl Physiol 116:364-75.RatSkeletal muscle
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Kemppainen 2014 Hum Mol GenetKemppainen KK, Rinne J, Sriram A, Lakanmaa M, Zeb A, Tuomela T, Popplestone A, Singh S, Sanz A, Rustin P, Jacobs HT (2014) Expression of alternative oxidase in Drosophila ameliorates diverse phenotypes due to cytochrome oxidase deficiency. Hum Mol Genet 23:2078-93.Drosophila
Krumschnabel 2014 Methods EnzymolKrumschnabel G, Eigentler A, Fasching M, Gnaiger E (2014) Use of safranin for the assessment of mitochondrial membrane potential by high-resolution respirometry and fluorometry. https://doi.org/10.1016/B978-0-12-416618-9.00009-1MouseNervous system
Vigueira 2014 Cell RepVigueira PA, McCommis KS, Schweitzer GG, Remedi MS, Chambers KT, Fu X, McDonald WG, Cole SL, Colca JR, Kletzien RF, Burgess SC, Finck BN (2014) Mitochondrial pyruvate carrier 2 hypomorphism in mice leads to defects in glucose-stimulated insulin secretion. Cell Rep 7:2042-53.MouseHeart
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Zhang 2013 PLoS OneZhang Z, Tsukikawa M, Peng M, Polyak E, Nakamaru-Ogiso E, Ostrovsky J, McCormack S, Place E, Clarke C, Reiner G, McCormick E, Rappaport E, Haas R, Baur JA, Falk MJ (2013) Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling network. PLoS One 8:e69282.HumanFibroblast
Kiebish 2013 J Lipid ResKiebish MA, Yang K, Liu X, Mancuso DJ, Guan S, Zhao Z, Sims HF, Cerqua R, Cade WT, Han X, Gross RW (2013) Dysfunctional cardiac mitochondrial bioenergetic, lipidomic, and signaling in a murine model of Barth syndrome. J Lipid Res 54:1312-25.MouseHeart
Stride 2013 Eur J Heart FailStride N, Larsen S, Hey-Mogensen M, Sander K, Lund JT, Gustafsson F, Kober L, Dela F (2013) Decreased mitochondrial oxidative phosphorylation capacity in the human heart with left ventricular systolic dysfunction. Eur J Heart Fail 15:150-7.HumanHeart
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Flachs 2013 Biochim Biophys ActaFlachs P, Rossmeisl M, Kuda O, Kopecky J (2013) Stimulation of mitochondrial oxidative capacity in white fat independent of UCP1: A key to lean phenotype. Biochim Biophys Acta 1831:986-1003.
Karlsson 2013 Int J Biochem Cell BiolKarlsson M, Hempel C, Sjövall F, Hansson Magnus J, Kurtzhals JA, Elmér E (2013) Brain mitochondrial function in a murine model of cerebral malaria and the therapeutic effects of rhEPO. Int J Biochem Cell Biol 45:151-5.MouseNervous system
Roy 2013 PLoS OneRoy C, Paglialunga S, Schaart G, Moonen-Kornips E, Meex RC, Phielix E, Hoeks J, Hesselink MK, Cianflone K, Schrauwen P (2013) Relationship of C5L2 receptor to skeletal muscle substrate utilization. PLoS One 8:e57494.Human
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Silva 2012 PLOS ONESilva da Costa L, Pereira da Silva AP, Da Poian AT, El-Bacha T (2012) Mitochondrial bioenergetic alterations in mouse neuroblastoma cells infected with Sindbis virus: implications to viral replication and neuronal death. PLoS One 7:e33871.MouseNeuroblastoma
De Souza 2012 Lipidsde Souza Pinto R, Castilho G, Paim BA, Machado-Lima A, Inada NM, Nakandakare ER, Vercesi AE, Passarelli M (2012) Inhibition of macrophage oxidative stress prevents the reduction of ABCA-1 transporter induced by advanced glycated albumin. Lipids 47:443-50.
Iglesias-Gonzalez 2012 Neurochem ResIglesias-Gonzalez J, Sanchez-Iglesias S, Mendez-Alvarez E, Rose S, Hikima A, Jenner P, Soto-Otero R (2012) Differential toxicity of 6-hydroxydopamine in SH-SY5Y human neuroblastoma cells and rat brain mitochondria: protective role of catalase and superoxide dismutase. Neurochem Res 37:2150-60.RatNervous system
Eckert 2012 Mol NeurobiolEckert GP, Renner K, Eckert SH, Eckmann J, Hagl S, Abdel-Kader RM, Kurz C, Leuner K, Muller WE (2012) Mitochondrial dysfunction - a pharmacological target in Alzheimer's disease. Mol Neurobiol 46:136-50.Human
Pimenta 2012 Cell Death DifferPimenta de Castro I, Costa AC, Lam D, Tufi R, Fedele V, Moisoi N, Dinsdale D, Deas E, Loh SH, Martins LM (2012) Genetic analysis of mitochondrial protein misfolding in Drosophila melanogaster. Cell Death Differ doi:10.1038/cdd.2012.5.Drosophila
Attane 2012 DiabetesAttané C, Foussal C, Le Gonidec S, Benani A, Daviaud D, Wanecq E, Guzmán-Ruiz R, Dray C, Bezaire V, Rancoule C, Kuba K, Ruiz-Gayo M, Levade T, Penninger J, Burcelin R, Pénicaud L, Valet P, Castan-Laurell I (2012) Apelin treatment increases complete fatty acid oxidation, mitochondrial oxidative capacity, and biogenesis in muscle of insulin-resistant mice. Diabetes 61:310-20.MouseSkeletal muscle
Stensvold 2012 Metab Syndr Relat DisordStensvold D, Slørdahl SA, Wisløff U (2012) Effect of exercise training on inflammation status among people with metabolic syndrome. Metab Syndr Relat Disord 10:267-72.Human
Koopman 2012 N Engl J MedKoopman WJ, Willems PH, Smeitink JA (2012) Monogenic mitochondrial disorders. N Engl J Med 366:1132-41.
Booth 2012 Int J Clin Exp MedBooth NE, Myhill S, McLaren-Howard J (2012) Mitochondrial dysfunction and the pathophysiology of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS). Int J Clin Exp Med 5:208-20.
Jirkovsky 2012 J Pharmacol Exp TherJirkovsky E, Popelová O, Kriváková-Stanková P, Vávrová A, Hroch M, Hasková P, Brcáková-Dolezelová E, Micuda S, Adamcová M, Simůnek T, Cervinková Z, Gersl V, Sterba M (2012) Chronic anthracycline cardiotoxicity: molecular and functional analysis with focus on nuclear factor erythroid 2-related factor 2 and mitochondrial biogenesis pathways. J Pharmacol Exp Ther 343:468-78.RabbitHeart
Phielix 2012 DiabetesPhielix E, Meex R, Ouwens DM, Sparks LM, Hoeks J, Schaart G, Moonen-Kornips E, Hesselink MK, Schrauwen P (2012) High oxidative capacity due to chronic exercise training attenuates lipid-induced insulin resistance. Diabetes 61:2472-8.HumanSkeletal muscle
Nakamura 2011 J Biol ChemNakamura K, Nemani VM, Azarbal F, Skibinski G, Levy JM, Egami K, Munishkina L, Zhang J, Gardner B, Wakabayashi J, Sesaki H, Cheng Y, Finkbeiner S, Nussbaum RL, Masliah E, Edwards RH (2011) Direct membrane association drives mitochondrial fission by the Parkinson disease-associated protein alpha-synuclein. J Biol Chem 286:20710-26.Mouse
Van Bergen 2011 PLoS OneVan Bergen NJ, Crowston JG, Kearns LS, Staffieri SE, Hewitt AW, Cohn AC, Mackey DA, Trounce IA (2011) Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy. PLoS One 6:e21347.HumanNervous system
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Szendroedi 2011 Nat Rev EndocrinolSzendroedi J, Phielix E, Roden M (2011) The role of mitochondria in insulin resistance and type 2 diabetes mellitus. Nat Rev Endocrinol 8:92-103.Human
Heeman 2011 J Cell SciHeeman B, Van den Haute C, Aelvoet SA, Valsecchi F, Rodenburg RJ, Reumers V, Debyser Z, Callewaert G, Koopman WJ, Willems PH, Baekelandt V (2011) Depletion of PINK1 affects mitochondrial metabolism, calcium homeostasis and energy maintenance. J Cell Sci 124:1115-25.Mouse
Mirowsky 2011 J Gerontol B Psychol Sci Soc SciMirowsky J (2011) Cognitive decline and the default American lifestyle. J Gerontol B Psychol Sci Soc Sci 66B(suppl_1):i50–i58.
Japiassu 2011 Crit Care MedJapiassu AM, Santiago AP, d'Avila Jda C, Garcia-Souza LF, Galina A, Castro Faria-Neto HC, Bozza FA, Oliveira MF (2011) Bioenergetic failure of human peripheral blood monocytes in patients with septic shock is mediated by reduced F1Fo adenosine-5'-triphosphate synthase activity. Crit Care Med 39:1056-63.HumanBlood cells
Paulsen 2011 Cell TransplantPaulsen BD, Maciel RD, Galina A, da Silveira MS, Souza CD, Drummond H, Pozzato EN, Junior HS, Chicaybam L, Massuda R, Setti-Perdigão P, Bonamino M, Belmonte-de-Abreu PS, Castro NG, Brentani H, Rehen SK (2011) Altered oxygen metabolism associated to neurogenesis of induced pluripotent stem cells derived from a schizophrenic patient. Cell Transplant 21:1547-59HumanFibroblast
Lindfors 2011 Proc Natl Acad Sci U S ALindfors C, Nilsson IA, Garcia-Roves PM, Zuberi AR, Karimi M, Donahue LR, Roopenian DC, Mulder J, Uhlen M, Ekstroem TJ, Davisson MT, Hoekfelt TG, Schalling M, Johansen JE (2011) Hypothalamic mitochondrial dysfunction associated with anorexia in the anx/anx mouse. Proc Natl Acad Sci U S A 108:18108-13.MouseNervous system
Marechal 2011 Clin Sci (Lond)Marechal X, Montaigne D, Marciniak C, Marchetti P, Hassoun SM, Beauvillain JC, Lancel S, Neviere R (2011) Doxorubicin-induced cardiac dysfunction is attenuated by ciclosporin treatment in mice through improvements in mitochondrial bioenergetics. Clin Sci (Lond) 121:405-13.MouseHeart
Naimi 2011 Clin Physiol Funct ImagingNaimi AI, Bourbeau J, Perrault H, Baril J, Wright-Paradis C, Rossi A, Taivassalo T, Sheel AW, Rabøl R, Dela F, Boushel RC (2011) Altered mitochondrial regulation in quadriceps muscles of patients with COPD. Clin Physiol Funct Imaging 31:124-31.HumanSkeletal muscle
Mittal 2011 HPB (Oxford)Mittal A, Hickey AJ, Chai CC, Loveday BP, Thompson N, Dare A, Delahunt B, Cooper GJ, Windsor JA, Phillips AR (2011) Early organ-specific mitochondrial dysfunction of jejunum and lung found in rats with experimental acute pancreatitis. HPB (Oxford) 13:332-41.RatHeart
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Goetzman 2011 Prog Mol Biol Transl SciGoetzman ES (2011) Modeling disorders of fatty acid metabolism in the mouse. Prog Mol Biol Transl Sci 100:389-417. https://doi.org/10.1016/B978-0-12-384878-9.00010-8Mouse
Lotkova 2011 Gen Physiol BiophysLotková H, Staňková P, Roušar T, Kučera O, Kohoutek L, Mičuda S, Brčáková E, Kolouchová G, Cervinková Z (2011) Deteriorating effect of fluvastatin on the cholestatic liver injury induced by bile duct ligation in rats. Gen Physiol Biophys 30:66-74.Rat
Hey-Mogensen 2010 DiabetologiaHey-Mogensen M, Hojlund K, Vind BF, Wang L, Dela F, Beck-Nielsen H, Fernstroem M, Sahlin K (2010) Effect of physical training on mitochondrial respiration and reactive oxygen species release in skeletal muscle in patients with obesity and type 2 diabetes. Diabetologia 53:1976-85.HumanSkeletal muscle
Kane 2010 Free Radic Biol MedKane DA, Anderson EJ, Price III JW, Woodlief TL, Lin C-T, Bikman BT, Cortright RN, Neufer PD (2010) Metformin selectively attenuates mitochondrial H2O2 emission without affecting respiratory capacity in skeletal muscle of obese rats. Free Radic Biol Med 49:1082–7.RatSkeletal muscle
Phielix 2010 DiabetologiaPhielix E, Meex R, Moonen-Kornips E, Hesselink MK, Schrauwen P (2010) Exercise training increases mitochondrial content and ex vivo mitochondrial function similarly in patients with type 2 diabetes and in control individuals. Diabetologia 53:1714-21.HumanSkeletal muscle
Martin 2010 Proc Natl Acad Sci U S AMartin B, Ji S, Maudsley S, Mattson MP (2010) "Control" laboratory rodents are metabolically morbid: why it matters. Proc Natl Acad Sci U S A 107:6127-33.Human
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Chowdhury 2010 DiabetesChowdhury SK, Zherebitskaya E, Smith DR, Akude E, Chattopadhyay S, Jolivalt CG, Calcutt NA, Fernyhough P (2010) Mitochondrial respiratory chain dysfunction in dorsal root ganglia of streptozotocin-induced diabetic rats and its correction by insulin treatment. Diabetes 59:1082-91.RatNervous system
Esteves 2010 J NeurochemEsteves AR, Lu J, Rodova M, Onyango I, Lezi E, Dubinsky R, Lyons KE, Pahwa R, Burns JM, Cardoso SM, Swerdlow RH (2010) Mitochondrial respiration and respiration-associated proteins in cell lines created through Parkinson's subject mitochondrial transfer. J Neurochem 113:674-82.HumanBlood cells
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Baron 2010 ThesisBaron M (2010) Copy number variations of the mitochondrial DNA as potential cause of mitochondrial diseases. Thesis Rheinischen Friedrich-Wilhelms-Universitaet Bonn, Mathematisch-Naturwissenschaftlichen Fakultät, 110pp.HumanEndothelial;epithelial;mesothelial cell
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Raboel 2010 Diabetes Obes MetabRaboel R, Boushel RC, Almdal T, Hansen CN, Ploug T, Haugaard SB, Prats C, Madsbad S, Dela F (2010) Opposite effects of pioglitazone and rosiglitazone on mitochondrial respiration in skeletal muscle of patients with type 2 diabetes. Diabetes Obes Metab 12:806-14.HumanSkeletal muscle
Lauritzen 2010 Mol Cell BiolLauritzen KH, Moldestad O, Eide L, Carlsen H, Nesse G, Storm JF, Mansuy IM, Bergersen LH, Klungland A (2010) Mitochondrial DNA toxicity in forebrain neurons causes apoptosis, neurodegeneration, and impaired behavior. Mol Cell Biol 30:1357-67.MouseNervous system
Guillet 2010 NeurogeneticsGuillet V, Gueguen N, Verny C, Ferre M, Homedan C, Loiseau D, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P, Chevrollier A (2010) Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease. Neurogenetics 11:127-33.HumanNervous system
Krebiehl 2010 PLoS OneKrebiehl G, Ruckerbauer S, Burbulla LF, Kieper N, Maurer B, Waak J, Wolburg H, Gizatullina Z, Gellerich FN, Woitalla D, Riess O, Kahle PJ, Proikas-Cezanne T, Krueger R (2010) Reduced basal autophagy and impaired mitochondrial dynamics due to loss of Parkinson's disease-associated protein DJ-1. PLoS One 5:e9367.MouseFibroblast
Chowdhury 2010 Am J Physiol Endocrinol MetabChowdhury SK, Sangle GV, Xie X, Stelmack GL, Halayko AJ, Shen GX (2010) Effects of extensively oxidized low-density lipoprotein on mitochondrial function and reactive oxygen species in porcine aortic endothelial cells. Am J Physiol Endocrinol Metab 298:E89-98.PigEndothelial;epithelial;mesothelial cell
Jones 2009 Exp NeurolJones TT, Brewer GJ (2009) Critical age-related loss of cofactors of neuron cytochrome c oxidase reversed by estrogen. Exp Neurol 215:212-9.RatNervous system
Anderson 2009 J Am Coll CardiolAnderson EJ, Kypson AP, Rodriguez E, Anderson CA, Lehr EJ, Neufer PD (2009) Substrate-specific derangements in mitochondrial metabolism and redox balance in the atrium of the type 2 diabetic human heart. J Am Coll Cardiol 54:1891-8.HumanHeart
Mantena 2009 Biochem JMantena SK, Vaughn Jr DP, Andringa KK, Eccleston HB, King AL, Abrams GA, Doeller JE, Kraus DW, Darley-Usmar V, Bailey SM (2009) High fat diet induces dysregulation of hepatic oxygen gradients and mitochondrial function in vivo. Biochem J 417:183–93.MouseLiver
Raboel 2009 Diabetes Obes MetabRaboel R, Hojberg PM, Almdal T, Boushel RC, Haugaard SB, Madsbad S, Dela F (2009) Improved glycaemic control decreases inner mitochondrial membrane leak in type 2 diabetes. Diabetes Obes Metab 11:355-60.HumanSkeletal muscle
Moisoi 2009 Cell Death DifferMoisoi N, Klupsch K, Fedele V, East P, Sharma S, Renton A, Plun-Favreau H, Edwards RE, Teismann P, Esposti MD, Morrison AD, Wood NW, Downward J, Martins LM (2009) Mitochondrial dysfunction triggered by loss of HtrA2 results in the activation of a brain-specific transcriptional stress response. Cell Death Differ 16:449-64.MouseNervous system
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Myhill 2009 Int J Clin Exp MedMyhill S, Booth NE, McLaren-Howard J (2009) Chronic fatigue syndrome and mitochondrial dysfunction. Int J Clin Exp Med 2:1-16.
Jesse 2009 CNS Neurosci TherJesse S, Steinacker P, Lehnert S, Gillardon F, Hengerer B, Otto M (2009) Neurochemical approaches in the laboratory diagnosis of Parkinson and Parkinson dementia syndromes: a review. CNS Neurosci Ther 15:157-82.
Lancel 2009 J Pharmacol Exp TherLancel S, Hassoun SM, Favory R, Decoster B, Motterlini R, Neviere R (2009) Carbon monoxide rescues mice from lethal sepsis by supporting mitochondrial energetic metabolism and activating mitochondrial biogenesis. J Pharmacol 329:641-48.MouseHeart
Nochez 2009 Mol VisNochez Y, Arsene S, Gueguen N, Chevrollier A, Ferré M, Guillet V, Desquiret V, Toutain A, Bonneau D, Procaccio V, Amati-Bonneau P, Pisella PJ, Reynier P (2009) Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect. Mol Vis 15:598-608.HumanFibroblast
Lim 2009 PlosOneLim S, Ahn SY, Song IC, Chung MH, Jang HC, Park KS, Lee KU, Pak YK, Lee HK (2009) Chronic exposure to the herbicide, atrazine, causes mitochondrial dysfunction and insulin resistance. PLoS One 4:e5186.RatSkeletal muscle
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Keeney 2009 Exp NeurolKeeney PM, Dunham LD, Quigley CK, Morton SL, Bergquist KE, Bennett JP (2009) Cybrid models of Parkinson's disease show variable mitochondrial biogenesis and genotype-respiration relationships. Exp Neurol 220:374-82.HumanBlood cells
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Kuzelova 2008 Gen Physiol BiophysKuzelova M, Adameova A, Sumbalova Z, Paulikova I, Harcarová A, Svec P, Kucharska J. (2008) The effect of simvastatin on coenzyme Q and antioxidant/oxidant balance in diabetic-hypercholesterolaemic rats. Gen Physiol Biophys. 27:291-8.RatHeart
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Monge 2008 Mol Cell BiochemMonge C, Beraud N, Kuznetsov AV, Rostovtseva T, Sackett D, Schlattner U, Vendelin M, Saks V (2008) Regulation of respiration in brain mitochondria and synaptosomes: restrictions of ADP diffusion in situ, roles of tubulin, and mitochondrial creatine kinase. Mol Cell Biochem 318:147-65.RatNervous system
Gruno 2008 J GastroenterolGruno M, Peet N, Tein A, Salupere R, Sirotkina M, Valle J, Peetsalu A, Seppet EK (2008) Atrophic gastritis: deficient complex I of the respiratory chain in the mitochondria of corpus mucosal cells. J Gastroenterol 43:780-8.HumanEndothelial;epithelial;mesothelial cell
Rauchova 2008 J Bioenerg BiomembrRauchova H, Drahota Z, Bergamini C, Fato R, Lenaz G (2008) Modification of respiratory-chain enzyme activities in brown adipose tissue mitochondria by idebenone (hydroxydecyl-ubiquinone). J Bioenerg Biomembr 40:85-93.
Haas 2008 Mol Genet MetabHaas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Wong LJ, Cohen BH, Naviaux RK (2008) The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab 94:16-37.Nervous system
Hansson 2008 Free Radic Biol MedHansson Magnus J, Månsson R, Morota S, Uchino H, Kallur T, Sumi T, Ishii N, Shimazu M, Keep MF, Jegorov A, Elmér E (2008) Calcium-induced generation of reactive oxygen species in brain mitochondria is mediated by permeability transition. Free Radic Biol Med 45:284-94.RatNervous system
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Hein 2008 Hum Mol GenetHein S, Schönfeld P, Kahlert S, Reiser G (2008) Toxic effects of X-linked adrenoleukodystrophy-associated, very long chain fatty acids on glial cells and neurons from rat hippocampus in culture. Hum Mol Genet 17:1750-61.RatNervous system
Juellig 2008 ProteomicsJüllig M, Hickey AJ, Chai CC, Skea GL, Middleditch MJ, Costa S, Choong SY, Philips AR, Cooper GJ (2008) Is the failing heart out of fuel or a worn engine running rich? A study of mitochondria in old spontaneously hypertensive rats. Proteomics 8:2556-72.RatHeart
Honzik 2006 PlacentaHonzik T, Drahota Z, Bohm M, Jesina P, Mracek T, Paul J, Zeman J, Houstek J (2006) Specific properties of heavy fraction of mitochondria from human-term placenta - Glycerophosphate-dependent hydrogen peroxide production. Placenta 27:348-56.Human
Miller 2006 FEBS LettMiller I, Gemeiner M, Gesslbauer B, Kungl A, Piskernik C, Haindl S, Nürnberger S, Bahrami Sl, Redl H, Kozlov AV (2006) Proteome analysis of rat liver mitochondria reveals a possible compensatory response to endotoxic shock. FEBS Lett 580:1257-62.RatLiver
Kasparova 2006 Neurochem IntKasparová S, Sumbalová Z, Bystrický P, Kucharská J, Liptaj T, Mlynárik V, Gvozdjáková A (2006) Effect of coenzyme Q10 and vitamin E on brain energy metabolism in the animal model of Huntington's disease. Neurochem Int 48:93-9.RatNervous system
Larche 2006 J Am Coll CardiolLarche J, Lancel S, Hassoun SM, Favory R, Decoster B, Marchetti P, Chopin C, Neviere R (2006) Inhibition of mitochondrial permeability transition prevents sepsis-induced myocardial dysfunction and mortality. J Am Coll Cardiol 48:377-85.Human
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Raboel 2006 Appl Physiol Nutr MetabRaboel R, Boushel RC, Dela F (2006) Mitochondrial oxidative function and type 2 diabetes. Appl Physiol Nutr Metab 31:675-83.HumanSkeletal muscle
Blakely 2006 Pediatr ResBlakely EL, Rennie KJ, Jones L, Elstner M, Chrzanowska-Lightowlers ZMA, White CB, Shield JPH, Pilz DT, Turnbull DM, Poulton J, Taylor RW (2006) Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis. Pediatr Res 59:440-4.HumanFibroblast
Oezen 2005 Hum Mol GenetOezen I, Rossmanith W, Forss-Petter S, Kemp S, Voigtlander T, Moser-Thier K, Wanders RJA, Bittner RE, Berger J (2005) Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency. Hum Mol Genet 14:1127-37.Human
Mouse
Skeletal muscle
Nervous system
Fibroblast
Winkler-Stuck 2005 J Neural TransmWinkler-Stuck K, Kirches E, Mawrin C, Dietzmann K, Lins H, Wallesch CW, Kunz WS, Wiedemann FR (2005) Re-evaluation of the dysfunction of mitochondrial respiratory chain in skeletal muscle of patients with Parkinson's disease. J Neural Transm 112:499-518.HumanSkeletal muscle
Gellerich 2004 Mol Cell BiochemGellerich FN, Trumbeckaite S, Müller T, Deschauer M, Chen Y, Gizatullina Z, Zierz S (2004) Energetic depression caused by mitochondrial dysfunction. Mol Cell Biochem 256/257:391-405.
Winkler-Stuck 2004 J Neurol SciWinkler-Stuck K, Wiedemann FR, Wallesch CW, Kunz WS (2004) Effect of coenzyme Q10 on the mitochondrial function of skin fibroblasts from Parkinson patients. J Neurol Sci 220:41-8.HumanFibroblast
Jesina 2004 Biochem JJesina P, Tesarova M, Fornuskova D, Vojtiskova A, Pecina P, Kaplanova V, Hansikova H, Zeman J, Houstek J (2004) Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206. Biochem J 383:561-71.HumanFibroblast
Vielhaber 2003 EpilepsiaVielhaber S, Von Oertzen JH, Kudin AF, Schoenfeld A, Menzel C, Biersack HJ, Kral T, Elger CE, Kunz WS (2003) Correlation of hippocampal glucose oxidation capacity and interictal FDG-PET in temporal lobe epilepsy. Epilepsia 44:193-9.HumanNervous system
Wenchich 2003 Physiol ResWenchich L, Drahota Z, Honzík T, Hansíková H, Tesarová M, Zeman J, Houstek J (2003) Polarographic evaluation of mitochondrial enzymes activity in isolated mitochondria and in permeabilized human muscle cells with inherited mitochondrial defects. Physiol Res 52:781-88.HumanSkeletal muscle
Kudin 2002 Eur J NeurosciKudin AP, Kudina TA, Seyfried J, Vielhaber S, Beck H, Elger CE, Kunz WS (2002) Seizure-dependent modulation of mitochondrial oxidative phosphorylation in rat hippocampus. Eur J Neurosci 15:1105-14.RatNervous system
Braun 2001 Biochim Biophys ActaBraun U, Paju K, Eimre M, Seppet E, Orlova E, Kadaja L, Trumbeckaite S, Gellerich FN, Zierz S, Jockusch H, Seppet EK (2001) Lack of dystrophin is associated with altered integration of the mitochondria and ATPases in slow-twitch muscle cells of MDX mice. Biochim Biophys Acta 1505:258-70.MouseHeart
Skeletal muscle
Kemp 2000 Thermochim Acta (Vol 355)Kemp RB (2000) "Fire burn and cauldron bubble" (W. Shakespeare): what the calorimetric-respirometric (CR) ratio does for our understanding of cells? Thermochim Acta 355:115-24.
Kunz 2000 Ann NeurolKunz WS, Kudin AP, Vielhaber S, Blumecke I, Zuschratter W, Schramm J, Beck H, Elger CE (2000) Mitochondrial complex I deficiency in the epileptic focus of patients with temporal lobe epilepsy. Ann Neurol 48:766-73.HumanNervous system
Vielhaber 1999 J Neurol SciVielhaber S, Winkler K, Kirches E, Kunz D, Büchner M, Feistner H, Elger CE, Ludolph AC, Riepe MW, Kunz WS (1999) Visualization of defective mitochondrial function in skeletal muscle fibers of patients with sporadic amyotrophic lateral sclerosis. J Neurol Sci 169:133-9.HumanSkeletal muscle
Nervous system
Oexle 1999 Biochim Biophys ActaOexle H, Gnaiger E, Weiss G (1999) Iron-dependent changes in cellular energy metabolism: influence on citric acid cycle and oxidative phosphorylation. Biochim Biophys Acta 1413:99-107.HumanBlood cells
Kirches 1998 J Inherit Metab DisKirches EJF, Winkler K, Warich-Kirches M, Szibor R, Wien F, Kunz WS, von Bossanyi P, Bajaj PK, Dietzmann K (1998) mtDNA depletion and impairment of mitochondrial function in a case of a multisystem disorder including severe myopathy. J Inherit Metab Dis 21:400-8.HumanSkeletal muscle
Kunz 1997 Anal BiochemKunz D, Luley C, Winkler K, Lins H, Kunz WS (1997) Flow cytometric detection of mitochondrial dysfunction in subpopulations of human mononuclear cells. Anal Biochem 246:218-24.Blood cells
Lymphocyte
Kunz 1997 Mol Cell BiochemKunz WS, Winkler K, Kuznetsov AV, Lins H, Kirches E, Wallesch CW (1997) Detection of mitochondrial defects by laser fluorimetry. Mol Cell Biochem 174:97-100.HumanSkeletal muscle
Halangk 1997 Zentralbl ChirHalangk W, Matthias R, Nedelev B, Schild L, Meyer F, Schulz H-U, Lippert H (1997) Beeinträchtigung der Energiebereitstellung von Pankreasmitochondrien bei experimenteller akuter Pankreatitis. Zentralbl Chir 122:305-8.
Kirches 1996 SaponinKirches E, Winkler K, Kuznetsov AV, Lins H, von Bossanyi P, Dietzmann K, Frank B, Feistner H, Kunz WS (1996) Laserfluoreszenz-Studien der Mitochondrienfunktion in Saponin-permeabilisierten Skelettmuskelfasern von Patienten mit chronisch progressiver externer Ophthalmoplegie. Jahrb Neuromusk Erkrankungen 1996, Arcis Verlag:166-9.HumanSkeletal muscle
Winkler 1995 Biochim Biophys ActaWinkler K, Kuznetsov AV, Lins H, Kirches E, von Bossanyi P, Dietzmann K, Frank B, Feistner H, Kunz WS (1995) Laser-excited fluorescence studies of mitochondrial function in saponin-skinned skeletal muscle fibers of patients with chronic progressive external ophthalmoplegia. Biochim Biophys Acta 1272:181-4.HumanSkeletal muscle
Kuznetsov 1994 BTK-275
BTK1994
Kuznetsov AV, Clark JF, Winkler K, Kunz WS (1994) Change in flux control coefficient of cytochrome c oxidase in copper deficient mottled brindled mice. In: What is Controlling Life? (Gnaiger E, Gellerich FN, Wyss M, eds) Modern Trends in BioThermoKinetics 3. Innsbruck Univ Press:275-77.

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