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The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation
Jiang, Pingping, Jin, Xiaofen, Peng, Yanyan, Wang, Meng, Liu, Hao, Liu, Xiaoling, Zhang, Zengjun, Ji, Yanchun, Zhang, Juanjuan, Liang, Min, Zhao, Fuxin, Sun, Yan-Hong, Zhang, Minglian, Zhou, Xiangtian, Chen, Ye, Mo, Jun Qin, Huang, Taosheng, Qu, Jia, Guan, Min-Xin
Published in Human molecular genetics (01.02.2016)
Published in Human molecular genetics (01.02.2016)
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Mitochondrial respiratory capacity and coupling control decline with age in human skeletal muscle
Porter, Craig, Hurren, Nicholas M., Cotter, Matthew V., Bhattarai, Nisha, Reidy, Paul T., Dillon, Edgar L., Durham, William J., Tuvdendorj, Demidmaa, Sheffield-Moore, Melinda, Volpi, Elena, Sidossis, Labros S., Rasmussen, Blake B., Børsheim, Elisabet
Published in American journal of physiology: endocrinology and metabolism (01.08.2015)
Published in American journal of physiology: endocrinology and metabolism (01.08.2015)
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Reversible Thiol Oxidation Increases Mitochondrial Electron Transport Complex Enzyme Activity but Not Respiration in Cardiomyocytes from Patients with End-Stage Heart Failure
Kumar, Ravi A., Thome, Trace, Sharaf, Omar M., Ryan, Terence E., Arnaoutakis, George J., Jeng, Eric I., Ferreira, Leonardo F.
Published in Cells (Basel, Switzerland) (25.07.2022)
Published in Cells (Basel, Switzerland) (25.07.2022)
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Mitochondrial complex I defect resulting from exercise-induced lower limb ischemia in patients with peripheral arterial disease
Daligault, Mickaël, Procaccio, Vincent, Reynier, Pascal, Henni, Samir, Signolet, Isabelle, Abraham, Pierre, Chupin, Stéphanie, Ammi, Myriam, Gueguen, Naïg, Letournel, Franck, Picquet, Jean, Baufreton, Christophe
Published in Journal of Applied Physiology (01.09.2018)
Published in Journal of Applied Physiology (01.09.2018)
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Ambivalent effects of diazoxide on mitochondrial ROS production at respiratory chain complexes I and III
Dröse, Stefan, Hanley, Peter J., Brandt, Ulrich
Published in Biochimica et biophysica acta (01.06.2009)
Published in Biochimica et biophysica acta (01.06.2009)
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The inhibition of TDP-43 mitochondrial localization blocks its neuronal toxicity
Wang, Wenzhang, Wang, Luwen, Lu, Junjie, Siedlak, Sandra L, Fujioka, Hisashi, Liang, Jingjing, Jiang, Sirui, Ma, Xiaopin, Jiang, Zhen, da Rocha, Edroaldo Lummertz, Sheng, Max, Choi, Heewon, Lerou, Paul H, Li, Hu, Wang, Xinglong
Published in Nature medicine (01.08.2016)
Published in Nature medicine (01.08.2016)
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Biomarkers of mitochondrial content in skeletal muscle of healthy young human subjects
Larsen, Steen, Nielsen, Joachim, Hansen, Christina Neigaard, Nielsen, Lars Bo, Wibrand, Flemming, Stride, Nis, Schroder, Henrik Daa, Boushel, Robert, Helge, Jørn Wulff, Dela, Flemming, Hey‐Mogensen, Martin
Published in The Journal of physiology (01.07.2012)
Published in The Journal of physiology (01.07.2012)
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Identification of long-lived proteins in the mitochondria reveals increased stability of the electron transport chain
Krishna, Shefali, Arrojo e Drigo, Rafael, Capitanio, Juliana S., Ramachandra, Ranjan, Ellisman, Mark, Hetzer, Martin W.
Published in Developmental cell (08.11.2021)
Published in Developmental cell (08.11.2021)
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Nitrosative stress affects mitochondrial respiratory chain complex II and complex IV assemblies in Saccharomyces cerevisiae: S-nitrosylation of complex II
Biswas, Sanchita, Sengupta, Ayantika, Das, Shubhojit, Dey, Chirandeep, Sengupta, Rajib, Ghosh, Alok, Ghosh, Sanjay
Published in Biochimica et biophysica acta. General subjects (01.09.2025)
Published in Biochimica et biophysica acta. General subjects (01.09.2025)
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Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome
Antonicka, Hana, Weraarpachai, Woranontee, Szigety, Katherine M., Kopajtich, Robert, Gibson, James B., Van Hove, Johan L.K., Friederich, Marisa W., Lopriore, Piervito, Neuhofer, Christiane, Van Hove, Roxanne A., Cole, Michel A., Reisdorph, Richard, Peterson, James T., Dempsey, Katherine J., Ganetzky, Rebecca D., Mancuso, Michelangelo, Prokisch, Holger, Shoubridge, Eric A.
Published in American journal of human genetics (03.07.2025)
Published in American journal of human genetics (03.07.2025)
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Dysfunction in Mitochondrial Electron Transport Chain Complex I, Pyruvate Dehydrogenase Activity, and Mutations in ND1 and ND4 Gene in Autism Spectrum Disorder Subjects from Tamil Nadu Population, India
Mahalaxmi, Iyer, Subramaniam, Mohana Devi, Gopalakrishnan, Abilash Valsala, Vellingiri, Balachandar
Published in Molecular neurobiology (01.10.2021)
Published in Molecular neurobiology (01.10.2021)
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Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency
Alston, Charlotte L., Heidler, Juliana, Dibley, Marris G., Kremer, Laura S., Taylor, Lucie S., Fratter, Carl, French, Courtney E., Glasgow, Ruth I.C., Feichtinger, René G., Delon, Isabelle, Pagnamenta, Alistair T., Dolling, Helen, Lemonde, Hugh, Aiton, Neil, Bjørnstad, Alf, Henneke, Lisa, Gärtner, Jutta, Thiele, Holger, Tauchmannova, Katerina, Quaghebeur, Gerardine, Houstek, Josef, Sperl, Wolfgang, Raymond, F. Lucy, Prokisch, Holger, Mayr, Johannes A., McFarland, Robert, Poulton, Joanna, Ryan, Michael T., Wittig, Ilka, Henneke, Marco, Taylor, Robert W.
Published in American journal of human genetics (04.10.2018)
Published in American journal of human genetics (04.10.2018)
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Alzheimer's disease is associated with altered expression of genes involved in immune response and mitochondrial processes in astrocytes
Sekar, Shobana, McDonald, Jacquelyn, Cuyugan, Lori, Aldrich, Jessica, Kurdoglu, Ahmet, Adkins, Jonathan, Serrano, Geidy, Beach, Thomas G., Craig, David W., Valla, Jonathan, Reiman, Eric M., Liang, Winnie S.
Published in Neurobiology of aging (01.02.2015)
Published in Neurobiology of aging (01.02.2015)
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Mitochondrial Import and Accumulation of α-Synuclein Impair Complex I in Human Dopaminergic Neuronal Cultures and Parkinson Disease Brain
Devi, Latha, Raghavendran, Vijayendran, Prabhu, Badanavalu M., Avadhani, Narayan G., Anandatheerthavarada, Hindupur K.
Published in The Journal of biological chemistry (04.04.2008)
Published in The Journal of biological chemistry (04.04.2008)
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Specific subcellular changes in oxidative stress in prefrontal cortex from patients with bipolar disorder
Andreazza, Ana C., Wang, Jun‐Feng, Salmasi, Faraz, Shao, Li, Young, Lionel T.
Published in Journal of neurochemistry (01.11.2013)
Published in Journal of neurochemistry (01.11.2013)
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