Vamsi Mootha - Publications

Affiliations: 
Harvard University, Cambridge, MA, United States 
Area:
Cell Biology, Bioinformatics Biology

131 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2024 Rogers RS, Sharma R, Shah HB, Skinner OS, Guo XA, Panda A, Gupta R, Durham TJ, Shaughnessy KB, Mayers JR, Hibbert KA, Baron RM, Thompson BT, Mootha VK. Circulating N-lactoyl-amino acids and N-formyl-methionine reflect mitochondrial dysfunction and predict mortality in septic shock. Metabolomics : Official Journal of the Metabolomic Society. 20: 36. PMID 38446263 DOI: 10.1007/s11306-024-02089-z  0.318
2024 To TL, McCoy JG, Ostriker NK, Sandler LS, Mannella CA, Mootha VK. PMF-seq: a highly scalable screening strategy for linking genetics to mitochondrial bioenergetics. Nature Metabolism. PMID 38413804 DOI: 10.1038/s42255-024-00994-0  0.43
2023 Gupta R, Kanai M, Durham TJ, Tsuo K, McCoy JG, Kotrys AV, Zhou W, Chinnery PF, Karczewski KJ, Calvo SE, Neale BM, Mootha VK. Nuclear genetic control of mtDNA copy number and heteroplasmy in humans. Nature. 620: 839-848. PMID 37587338 DOI: 10.1038/s41586-023-06426-5  0.3
2023 Gopal RK, Vantaku VR, Panda A, Reimer B, Rath S, To TL, Fisch AS, Cetinbas M, Livneh M, Calcaterra MJ, Gigliotti BJ, Pierce KA, Clish CB, Dias-Santagata D, Sadow PM, ... ... Mootha VK, et al. Effectors enabling adaptation to mitochondrial complex I loss in Hurthle cell carcinoma. Cancer Discovery. PMID 37262067 DOI: 10.1158/2159-8290.CD-22-0976  0.747
2023 Ast T, Wang H, Marutani E, Nagashima F, Malhotra R, Ichinose F, Mootha VK. Continuous, but not intermittent, regimens of hypoxia prevent and reverse ataxia in a murine model of Friedreich's ataxia. Human Molecular Genetics. PMID 37260376 DOI: 10.1093/hmg/ddad091  0.721
2023 Skinner OS, Blanco-Fernández J, Goodman RP, Kawakami A, Shen H, Kemény LV, Joesch-Cohen L, Rees MG, Roth JA, Fisher DE, Mootha VK, Jourdain AA. Salvage of ribose from uridine or RNA supports glycolysis in nutrient-limited conditions. Nature Metabolism. PMID 37198474 DOI: 10.1038/s42255-023-00774-2  0.742
2023 Amarasekera SSC, Hock DH, Lake NJ, Calvo SE, Grønborg SW, Krzesinski EI, Amor DJ, Fahey MC, Simons C, Wibrand F, Mootha VK, Lek M, Lunke S, Stark Z, Østergaard E, et al. Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease. Human Molecular Genetics. PMID 37133451 DOI: 10.1093/hmg/ddad069  0.387
2023 Gupta R, Kanai M, Durham TJ, Tsuo K, McCoy JG, Chinnery PF, Karczewski KJ, Calvo SE, Neale BM, Mootha VK. Nuclear genetic control of mtDNA copy number and heteroplasmy in humans. Medrxiv : the Preprint Server For Health Sciences. PMID 36711677 DOI: 10.1101/2023.01.19.23284696  0.31
2022 Ganetzky RD, Markhard AL, Yee I, Clever S, Cahill A, Shah H, Grabarek Z, To TL, Mootha VK. Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation. The New England Journal of Medicine. 387: 1395-1403. PMID 36239646 DOI: 10.1056/NEJMoa2202949  0.411
2022 Peterson AA, Rangwala AM, Thakur MK, Ward PS, Hung C, Outhwaite IR, Chan AI, Usanov DL, Mootha VK, Seeliger MA, Liu DR. Discovery and molecular basis of subtype-selective cyclophilin inhibitors. Nature Chemical Biology. PMID 36163383 DOI: 10.1038/s41589-022-01116-1  0.492
2022 Abdulaziz EN, Bell TA, Rashid B, Heacock ML, Begic T, Skinner OS, Yaseen MA, Chao LH, Mootha VK, Pierik AJ, Cracan V. A natural fusion of flavodiiron, rubredoxin, and rubredoxin oxidoreductase domains is a self-sufficient water-forming oxidase of Trichomonas vaginalis. The Journal of Biological Chemistry. 102210. PMID 35780837 DOI: 10.1016/j.jbc.2022.102210  0.672
2022 Shi X, Reinstadler B, Shah H, To TL, Byrne K, Summer L, Calvo SE, Goldberger O, Doench JG, Mootha VK, Shen H. Combinatorial GxGxE CRISPR screen identifies SLC25A39 in mitochondrial glutathione transport linking iron homeostasis to OXPHOS. Nature Communications. 13: 2483. PMID 35513392 DOI: 10.1038/s41467-022-30126-9  0.577
2022 Mok BY, Kotrys AV, Raguram A, Huang TP, Mootha VK, Liu DR. CRISPR-free base editors with enhanced activity and expanded targeting scope in mitochondrial and nuclear DNA. Nature Biotechnology. PMID 35379961 DOI: 10.1038/s41587-022-01256-8  0.327
2022 Laricchia KM, Lake NJ, Watts NA, Shand M, Haessly A, Gauthier L, Benjamin D, Banks E, Soto J, Garimella K, Emery J, Rehm HL, MacArthur DG, Tiao G, Lek M, ... Mootha VK, et al. Mitochondrial DNA variation across 56,434 individuals in gnomAD. Genome Research. PMID 35074858 DOI: 10.1101/gr.276013.121  0.328
2021 Walker MA, Miranda M, Allred A, Mootha VK. On the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models. Current Opinion in Neurobiology. 72: 80-90. PMID 34656053 DOI: 10.1016/j.conb.2021.09.006  0.541
2021 Wang Z, Guo R, Trudeau SJ, Wolinsky E, Ast T, Liang JH, Jiang C, Ma Y, Teng M, Mootha V, Gewurz B. CYB561A3 is the Key Lysosomal Iron Reductase Required for Burkitt B-cell Growth and Survival. Blood. PMID 34232987 DOI: 10.1182/blood.2021011079  0.75
2021 Jourdain AA, Begg BE, Mick E, Shah H, Calvo SE, Skinner OS, Sharma R, Blue SM, Yeo GW, Burge CB, Mootha VK. Loss of LUC7L2 and U1 snRNP subunits shifts energy metabolism from glycolysis to OXPHOS. Molecular Cell. PMID 33852893 DOI: 10.1016/j.molcel.2021.02.033  0.724
2021 Chinnery PF, Falk MJ, Mootha VK, Rahman S. Editorial: Mitochondrial medicine special issue. Journal of Inherited Metabolic Disease. 44: 289-291. PMID 33764554 DOI: 10.1002/jimd.12374  0.359
2021 Frazier AE, Compton AG, Kishita Y, Hock DH, Welch AE, Amarasekera SSC, Rius R, Formosa LE, Imai-Okazaki A, Francis D, Wang M, Lake NJ, Tregoning S, Jabbari JS, Lucattini A, ... ... Mootha VK, et al. Fatal perinatal mitochondrial cardiac failure caused by recurrent duplications in the locus. Med (New York, N.Y.). 2: 49-73. PMID 33575671 DOI: 10.1016/j.medj.2020.06.004  0.321
2021 Sharma R, Reinstadler B, Engelstad K, Skinner OS, Stackowitz E, Haller RG, Clish CB, Pierce K, Walker MA, Fryer R, Oglesbee D, Mao X, Shungu DC, Khatri A, Hirano M, ... ... Mootha VK, et al. Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity. The Journal of Clinical Investigation. 131. PMID 33463549 DOI: 10.1172/JCI136055  0.796
2020 Gohil VM, Nilsson R, Belcher-Timme CA, Luo B, Root DE, Mootha VK. Correction: Mitochondrial and nuclear genomic responses to loss of LRPPRC expression. The Journal of Biological Chemistry. 295: 5533. PMID 33509593 DOI: 10.1074/jbc.AAC120.013571  0.698
2020 Rath S, Sharma R, Gupta R, Ast T, Chan C, Durham TJ, Goodman RP, Grabarek Z, Haas ME, Hung WHW, Joshi PR, Jourdain AA, Kim SH, Kotrys AV, Lam SS, ... ... Mootha VK, et al. MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations. Nucleic Acids Research. PMID 33174596 DOI: 10.1093/nar/gkaa1011  0.803
2020 Hathazi D, Griffin H, Jennings MJ, Giunta M, Powell C, Pearce SF, Munro B, Wei W, Boczonadi V, Poulton J, Pyle A, Calabrese C, Gomez-Duran A, Schara U, Pitceathly RD, ... ... Mootha V, et al. Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency. The Embo Journal. e105364. PMID 33128823 DOI: 10.15252/embj.2020105364  0.362
2020 Walker MA, Lareau CA, Ludwig LS, Karaa A, Sankaran VG, Regev A, Mootha VK. Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells. The New England Journal of Medicine. PMID 32786181 DOI: 10.1056/NEJMoa2001265  0.621
2020 Mok BY, de Moraes MH, Zeng J, Bosch DE, Kotrys AV, Raguram A, Hsu F, Radey MC, Peterson SB, Mootha VK, Mougous JD, Liu DR. A bacterial cytidine deaminase toxin enables CRISPR-free mitochondrial base editing. Nature. PMID 32641830 DOI: 10.1038/S41586-020-2477-4  0.375
2020 Ghosh S, Basu Ball W, Madaris TR, Srikantan S, Madesh M, Mootha VK, Gohil VM. An essential role for cardiolipin in the stability and function of the mitochondrial calcium uniporter. Proceedings of the National Academy of Sciences of the United States of America. PMID 32601238 DOI: 10.1073/pnas.2000640117  0.698
2020 Mick E, Titov DV, Skinner OS, Sharma R, Jourdain AA, Mootha VK. Distinct mitochondrial defects trigger the integrated stress response depending on the metabolic state of the cell. Elife. 9. PMID 32463360 DOI: 10.7554/Elife.49178  0.822
2020 Goodman RP, Markhard AL, Shah H, Sharma R, Skinner OS, Clish CB, Deik A, Patgiri A, Hsu YH, Masia R, Noh HL, Suk S, Goldberger O, Hirschhorn JN, Yellen G, ... ... Mootha VK, et al. Hepatic NADH reductive stress underlies common variation in metabolic traits. Nature. PMID 32461692 DOI: 10.1038/S41586-020-2337-2  0.785
2020 Gohil VM, Nilsson R, Belcher-Timme CA, Luo B, Root DE, Mootha VK. Correction: Mitochondrial and nuclear genomic responses to loss of expression. The Journal of Biological Chemistry. 295: 5533. PMID 32303645 DOI: 10.1074/Jbc.Aac120.013571  0.698
2020 Jain IH, Calvo SE, Markhard AL, Skinner OS, To TL, Ast T, Mootha VK. Genetic Screen for Cell Fitness in High or Low Oxygen Highlights Mitochondrial and Lipid Metabolism. Cell. PMID 32259488 DOI: 10.1016/J.Cell.2020.03.029  0.793
2020 Patgiri A, Skinner OS, Miyazaki Y, Schleifer G, Marutani E, Shah H, Sharma R, Goodman RP, To TL, Robert Bao X, Ichinose F, Zapol WM, Mootha VK. An engineered enzyme that targets circulating lactate to alleviate intracellular NADH:NAD imbalance. Nature Biotechnology. PMID 31932725 DOI: 10.1038/S41587-019-0377-7  0.795
2019 Ast T, Mootha VK. Oxygen and mammalian cell culture: are we repeating the experiment of Dr. Ox? Nature Metabolism. 1: 858-860. PMID 32694740 DOI: 10.1038/s42255-019-0105-0  0.712
2019 To TL, Cuadros AM, Shah H, Hung WHW, Li Y, Kim SH, Rubin DHF, Boe RH, Rath S, Eaton JK, Piccioni F, Goodale A, Kalani Z, Doench JG, Root DE, ... ... Mootha VK, et al. A Compendium of Genetic Modifiers of Mitochondrial Dysfunction Reveals Intra-organelle Buffering. Cell. 179: 1222-1238.e17. PMID 31730859 DOI: 10.1016/J.Cell.2019.10.032  0.45
2019 Ruetz M, Campanello GC, Purchal M, Shen H, McDevitt L, Gouda H, Wakabayashi S, Zhu J, Rubin EJ, Warncke K, Mootha VK, Koutmos M, Banerjee R. Itaconyl-CoA forms a stable biradical in methylmalonyl-CoA mutase and derails its activity and repair. Science (New York, N.Y.). 366: 589-593. PMID 31672889 DOI: 10.1126/Science.Aay0934  0.432
2019 Jain IH, Zazzeron L, Goldberger O, Marutani E, Wojtkiewicz GR, Ast T, Wang H, Schleifer G, Stepanova A, Brepoels K, Schoonjans L, Carmeliet P, Galkin A, Ichinose F, Zapol WM, ... Mootha VK, et al. Leigh Syndrome Mouse Model Can Be Rescued by Interventions that Normalize Brain Hyperoxia, but Not HIF Activation. Cell Metabolism. PMID 31402314 DOI: 10.1016/J.Cmet.2019.07.006  0.744
2019 Wang LW, Shen H, Nobre L, Ersing I, Paulo JA, Trudeau S, Wang Z, Smith NA, Ma Y, Reinstadler B, Nomburg J, Sommermann T, Cahir-McFarland E, Gygi SP, Mootha VK, et al. Epstein-Barr-Virus-Induced One-Carbon Metabolism Drives B Cell Transformation. Cell Metabolism. PMID 31257153 DOI: 10.1016/J.Cmet.2019.06.003  0.524
2019 Ast T, Meisel JD, Patra S, Wang H, Grange RMH, Kim SH, Calvo SE, Orefice LL, Nagashima F, Ichinose F, Zapol WM, Ruvkun G, Barondeau DP, Mootha VK. Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis. Cell. PMID 31031004 DOI: 10.1016/J.Cell.2019.03.045  0.746
2019 LEE JE, GOEDEKE L, ZHANG Y, PERRY RJ, GOODMAN R, MOOTHA V, SHULMAN GI. 288-LB: Effects of the Hepatic Mitochondrial Calcium Uniporter on Hepatic Gluconeogenesis and Mitochondrial Metabolism in Awake Mice Diabetes. 68: 288-LB. DOI: 10.2337/Db19-288-Lb  0.412
2018 Schleifer G, Marutani E, Ferrari M, Sharma R, Skinner O, Goldberger O, Grange RMH, Peneyra K, Malhotra R, Wepler M, Ichinose F, Bloch D, Mootha V, Zapol WM. Impaired Hypoxic Pulmonary Vasoconstriction in a Mouse Model of Leigh Syndrome. American Journal of Physiology. Lung Cellular and Molecular Physiology. PMID 30520688 DOI: 10.1152/Ajplung.00419.2018  0.674
2018 Gray MW, Mootha VK. Evolutionary mitochondrial biology in titisee. Iubmb Life. PMID 30358089 DOI: 10.1002/Iub.1958  0.402
2018 Gopal RK, Kübler K, Calvo SE, Polak P, Livitz D, Rosebrock D, Sadow PM, Campbell B, Donovan SE, Amin S, Gigliotti BJ, Grabarek Z, Hess JM, Stewart C, Braunstein LZ, ... ... Mootha VK, et al. Widespread Chromosomal Losses and Mitochondrial DNA Alterations as Genetic Drivers in Hürthle Cell Carcinoma. Cancer Cell. 34: 242-255.e5. PMID 30107175 DOI: 10.1016/J.Ccell.2018.06.013  0.717
2018 Mootha VK, Chinnery PF. Oxygen in mitochondrial disease: can there be too much of a good thing? Journal of Inherited Metabolic Disease. PMID 29948481 DOI: 10.1007/s10545-018-0210-3  0.348
2018 Gopal RK, Calvo SE, Shih AR, Chaves FL, McGuone D, Mick E, Pierce KA, Li Y, Garofalo A, Van Allen EM, Clish CB, Oliva E, Mootha VK. Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma. Proceedings of the National Academy of Sciences of the United States of America. PMID 29915083 DOI: 10.1073/pnas.1711888115  0.752
2018 Aebersold R, Agar JN, Amster IJ, Baker MS, Bertozzi CR, Boja ES, Costello CE, Cravatt BF, Fenselau C, Garcia BA, Ge Y, Gunawardena J, Hendrickson RC, Hergenrother PJ, Huber CG, ... ... Mootha VK, et al. How many human proteoforms are there? Nature Chemical Biology. 14: 206-214. PMID 29443976 DOI: 10.1038/Nchembio.2576  0.437
2018 Guieze R, Liu VM, Rosebrock D, Jourdain A, Hernández-Sánchez M, Martinez Az, Jing S, Baranowski KJ, Thompson PA, Jin-Mi H, Cartun Z, Aygun O, Notarangelo G, Livitz D, Li S, ... ... Mootha V, et al. Genetic Determinants of Venetoclax Resistance in Lymphoid Malignancies Blood. 132: 893-893. DOI: 10.1182/Blood-2018-99-118604  0.366
2017 Shen H, Campanello GC, Flicker D, Grabarek Z, Hu J, Luo C, Banerjee R, Mootha VK. The Human Knockout Gene CLYBL Connects Itaconate to Vitamin B12. Cell. PMID 29056341 DOI: 10.1016/J.Cell.2017.09.051  0.566
2017 Udeshi ND, Pedram K, Svinkina T, Fereshetian S, Myers SA, Aygun O, Krug K, Clauser K, Ryan D, Ast T, Mootha VK, Ting AY, Carr SA. Antibodies to biotin enable large-scale detection of biotinylation sites on proteins. Nature Methods. PMID 29039416 DOI: 10.1038/Nmeth.4465  0.712
2017 Garone C, D'Souza AR, Dallabona C, Lodi T, Rebelo-Guiomar P, Rorbach J, Donati MA, Procopio E, Montomoli M, Guerrini R, Zeviani M, Calvo SE, Mootha VK, DiMauro S, Ferrero I, et al. Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome. Human Molecular Genetics. PMID 28973171 DOI: 10.17863/Cam.13649  0.393
2017 Siegmund S, Yang H, Sharma R, Javors M, Skinner O, Mootha V, Hirano M, Schon EA. Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome. Human Molecular Genetics. PMID 28973153 DOI: 10.1093/Hmg/Ddx341  0.78
2017 Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, ... ... Mootha VK, et al. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. American Journal of Human Genetics. PMID 28942965 DOI: 10.1016/J.Ajhg.2017.08.015  0.44
2017 Cracan V, Titov DV, Shen H, Grabarek Z, Mootha VK. A genetically encoded tool for manipulation of NADP(+)/NADPH in living cells. Nature Chemical Biology. PMID 28805804 DOI: 10.1038/Nchembio.2454  0.725
2017 Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Bodaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, ... ... Mootha VK, et al. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. American Journal of Human Genetics. 101: 239-254. PMID 28777931 DOI: 10.1016/j.ajhg.2017.07.005  0.347
2017 Calvo SE, Julien O, Clauser KR, Shen H, Kamer KJ, Wells JA, Mootha VK. Comparative analysis of mitochondrial N-termini from mouse, human, and yeast. Molecular & Cellular Proteomics : McP. PMID 28122942 DOI: 10.1074/Mcp.M116.063818  0.574
2016 Arroyo JD, Jourdain AA, Calvo SE, Ballarano CA, Doench JG, Root DE, Mootha VK. A Genome-wide CRISPR Death Screen Identifies Genes Essential for Oxidative Phosphorylation. Cell Metabolism. PMID 27667664 DOI: 10.1016/J.Cmet.2016.08.017  0.388
2016 Perales-Clemente E, Cook AN, Evans JM, Roellinger S, Secreto F, Emmanuele V, Oglesbee D, Mootha VK, Hirano M, Schon EA, Terzic A, Nelson TJ. Natural underlying mtDNA heteroplasmy as a potential source of intra-person hiPSC variability. The Embo Journal. PMID 27436875 DOI: 10.15252/Embj.201694892  0.393
2016 Bao XR, Ong SE, Goldberger O, Peng J, Sharma R, Thompson DA, Vafai SB, Cox AG, Marutani E, Ichinose F, Goessling W, Regev A, Carr SA, Clish CB, Mootha VK. Mitochondrial dysfunction remodels one-carbon metabolism in human cells. Elife. 5. PMID 27307216 DOI: 10.7554/Elife.10575  0.4
2016 Titov DV, Cracan V, Goodman RP, Peng J, Grabarek Z, Mootha VK. Complementation of mitochondrial electron transport chain by manipulation of the NAD+/NADH ratio. Science (New York, N.Y.). 352: 231-5. PMID 27124460 DOI: 10.1126/Science.Aad4017  0.71
2016 Lewis-Smith D, Kamer KJ, Griffin H, Childs AM, Pysden K, Titov D, Duff J, Pyle A, Taylor RW, Yu-Wai-Man P, Ramesh V, Horvath R, Mootha VK, Chinnery PF. Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood. Neurology. Genetics. 2: e59. PMID 27123478 DOI: 10.1212/Nxg.0000000000000059  0.517
2016 Jain IH, Zazzeron L, Goli R, Alexa K, Schatzman-Bone S, Dhillon H, Goldberger O, Peng J, Shalem O, Sanjana NE, Zhang F, Goessling W, Zapol WM, Mootha VK. Hypoxia as a therapy for mitochondrial disease. Science (New York, N.Y.). PMID 26917594 DOI: 10.1126/Science.Aad9642  0.404
2016 Calvo SE, Clauser KR, Mootha VK. MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins. Nucleic Acids Research. 44: D1251-7. PMID 26450961 DOI: 10.1093/nar/gkv1003  0.381
2016 Cracan V, Titov D, Grabarek Z, Mootha V. Genetically Encoded Tools for Compartment-Specific Manipulation of NAD+/NADH or NADP+/NADPH Ratios Free Radical Biology and Medicine. 100: S182. DOI: 10.1016/J.Freeradbiomed.2016.10.479  0.681
2015 Chen H, Ren S, Clish C, Jain M, Mootha V, McCaffery JM, Chan DC. Titration of mitochondrial fusion rescues Mff-deficient cardiomyopathy. The Journal of Cell Biology. 211: 795-805. PMID 26598616 DOI: 10.1083/Jcb.201507035  0.505
2015 Thompson Legault J, Strittmatter L, Tardif J, Sharma R, Tremblay-Vaillancourt V, Aubut C, Boucher G, Clish CB, Cyr D, Daneault C, Waters PJ, Vachon L, Morin C, Laprise C, ... ... Mootha VK, et al. A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome. Cell Reports. 13: 981-9. PMID 26565911 DOI: 10.1016/J.Celrep.2015.09.054  0.39
2015 Kishi S, Campanholle G, Gohil VM, Perocchi F, Brooks CR, Morizane R, Sabbisetti V, Ichimura T, Mootha VK, Bonventre JV. Meclizine Preconditioning Protects the Kidney Against Ischemia-Reperfusion Injury. Ebiomedicine. 2: 1090-101. PMID 26501107 DOI: 10.1016/j.ebiom.2015.07.035  0.662
2015 Fassone E, Duncan AJ, Taanman JW, Pagnamenta AT, Sadowski MI, Holand T, Qasim W, Rutland P, Calvo SE, Mootha VK, Bitner-Glindzicz M, Rahman S. FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. Human Molecular Genetics. 24: 4183. PMID 26022995 DOI: 10.1093/hmg/ddv164  0.338
2015 Dai N, Zhao L, Wrighting D, Krämer D, Majithia A, Wang Y, Cracan V, Borges-Rivera D, Mootha VK, Nahrendorf M, Thorburn DR, Minichiello L, Altshuler D, Avruch J. IGF2BP2/IMP2-Deficient mice resist obesity through enhanced translation of Ucp1 mRNA and Other mRNAs encoding mitochondrial proteins. Cell Metabolism. 21: 609-21. PMID 25863250 DOI: 10.1016/J.Cmet.2015.03.006  0.479
2015 Ajroud-Driss S, Fecto F, Ajroud K, Lalani I, Calvo SE, Mootha VK, Deng HX, Siddique N, Tahmoush AJ, Heiman-Patterson TD, Siddique T. Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy. Neurogenetics. 16: 1-9. PMID 25193783 DOI: 10.1007/S10048-014-0421-1  0.44
2015 Mootha V. Metabolic profiling of mitochondrial disease at rest and with exercise Pathology. 47: S29. DOI: 10.1097/01.Pat.0000461410.11724.5F  0.509
2015 Mootha VK. Integrative genomics of mitochondrial disease Mitochondrion. 24: S3. DOI: 10.1016/j.mito.2015.07.015  0.327
2015 Kishi S, Campanholle G, Gohil VM, Perocchi F, Brooks CR, Morizane R, Sabbisetti V, Ichimura T, Mootha VK, Bonventre JV. Meclizine Preconditioning Protects the Kidney Against Ischemia-Reperfusion Injury Ebiomedicine. DOI: 10.1016/j.ebiom.2015.07.035  0.565
2014 Sinha A, Köhrer C, Weber MH, Masuda I, Mootha VK, Hou YM, RajBhandary UL. Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase. The Journal of Biological Chemistry. 289: 32729-41. PMID 25288793 DOI: 10.1074/Jbc.M114.610626  0.33
2014 Kovács-Bogdán E, Sancak Y, Kamer KJ, Plovanich M, Jambhekar A, Huber RJ, Myre MA, Blower MD, Mootha VK. Reconstitution of the mitochondrial calcium uniporter in yeast. Proceedings of the National Academy of Sciences of the United States of America. 111: 8985-90. PMID 24889638 DOI: 10.1073/Pnas.1400514111  0.318
2014 Lieber DS, Hershman SG, Slate NG, Calvo SE, Sims KB, Schmahmann JD, Mootha VK. Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency. Bmc Medical Genetics. 15: 30. PMID 24602372 DOI: 10.1186/1471-2350-15-30  0.768
2013 Sancak Y, Markhard AL, Kitami T, Kovács-Bogdán E, Kamer KJ, Udeshi ND, Carr SA, Chaudhuri D, Clapham DE, Li AA, Calvo SE, Goldberger O, Mootha VK. EMRE is an essential component of the mitochondrial calcium uniporter complex. Science (New York, N.Y.). 342: 1379-82. PMID 24231807 DOI: 10.1126/Science.1242993  0.771
2013 Gohil VM, Zhu L, Baker CD, Cracan V, Yaseen A, Jain M, Clish CB, Brookes PS, Bakovic M, Mootha VK. Meclizine inhibits mitochondrial respiration through direct targeting of cytosolic phosphoethanolamine metabolism. The Journal of Biological Chemistry. 288: 35387-95. PMID 24142790 DOI: 10.1074/Jbc.M113.489237  0.705
2013 Hildick-Smith GJ, Cooney JD, Garone C, Kremer LS, Haack TB, Thon JN, Miyata N, Lieber DS, Calvo SE, Akman HO, Yien YY, Huston NC, Branco DS, Shah DI, Freedman ML, ... ... Mootha VK, et al. Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. American Journal of Human Genetics. 93: 906-14. PMID 24119684 DOI: 10.1016/J.Ajhg.2013.09.011  0.788
2013 Garone C, Donati MA, Sacchini M, Garcia-Diaz B, Bruno C, Calvo S, Mootha VK, Dimauro S. Mitochondrial encephalomyopathy due to a novel mutation in ACAD9. Jama Neurology. 70: 1177-9. PMID 23836383 DOI: 10.1001/jamaneurol.2013.3197  0.387
2013 Pfeffer G, Horvath R, Klopstock T, Mootha VK, Suomalainen A, Koene S, Hirano M, Zeviani M, Bindoff LA, Yu-Wai-Man P, Hanna M, Carelli V, McFarland R, Majamaa K, Turnbull DM, et al. New treatments for mitochondrial disease-no time to drop our standards. Nature Reviews. Neurology. 9: 474-81. PMID 23817350 DOI: 10.1038/nrneurol.2013.129  0.349
2013 Lieber DS, Calvo SE, Shanahan K, Slate NG, Liu S, Hershman SG, Gold NB, Chapman BA, Thorburn DR, Berry GT, Schmahmann JD, Borowsky ML, Mueller DM, Sims KB, Mootha VK. Targeted exome sequencing of suspected mitochondrial disorders. Neurology. 80: 1762-70. PMID 23596069 DOI: 10.1212/Wnl.0B013E3182918C40  0.806
2013 Plovanich M, Bogorad RL, Sancak Y, Kamer KJ, Strittmatter L, Li AA, Girgis HS, Kuchimanchi S, De Groot J, Speciner L, Taneja N, Oshea J, Koteliansky V, Mootha VK. MICU2, a paralog of MICU1, resides within the mitochondrial uniporter complex to regulate calcium handling. Plos One. 8: e55785. PMID 23409044 DOI: 10.1371/journal.pone.0055785  0.33
2013 Rensvold JW, Ong SE, Jeevananthan A, Carr SA, Mootha VK, Pagliarini DJ. Complementary RNA and protein profiling identifies iron as a key regulator of mitochondrial biogenesis. Cell Reports. 3: 237-45. PMID 23318259 DOI: 10.1016/j.celrep.2012.11.029  0.687
2013 Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, ... ... Mootha VK, et al. Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease Nature Genetics. 45: 214-219. PMID 23313956 DOI: 10.1038/Ng.2501  0.418
2013 Mootha V. The Mitochondrial Uniporter: From Molecular Discovery to Physiology Biophysical Journal. 104: 2a. DOI: 10.1016/J.Bpj.2012.11.025  0.461
2012 Vafai SB, Mootha VK. Mitochondrial disorders as windows into an ancient organelle. Nature. 491: 374-83. PMID 23151580 DOI: 10.1038/nature11707  0.301
2012 Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, Ranieri M, Rizzuti M, Villa L, Magri F, Corti S, Bresolin N, Mootha VK, Moggio M, DiMauro S, et al. Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain : a Journal of Neurology. 135: 3404-15. PMID 23043144 DOI: 10.1093/brain/aws258  0.39
2012 Garone C, Rubio JC, Calvo SE, Naini A, Tanji K, Dimauro S, Mootha VK, Hirano M. MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions. Archives of Neurology. 69: 1648-51. PMID 22964873 DOI: 10.1001/Archneurol.2012.405  0.324
2012 Jain M, Nilsson R, Sharma S, Madhusudhan N, Kitami T, Souza AL, Kafri R, Kirschner MW, Clish CB, Mootha VK. Metabolite profiling identifies a key role for glycine in rapid cancer cell proliferation. Science (New York, N.Y.). 336: 1040-4. PMID 22628656 DOI: 10.1126/Science.1218595  0.768
2012 Kitami T, Logan DJ, Negri J, Hasaka T, Tolliday NJ, Carpenter AE, Spiegelman BM, Mootha VK. A chemical screen probing the relationship between mitochondrial content and cell size. Plos One. 7: e33755. PMID 22479437 DOI: 10.1371/Journal.Pone.0033755  0.807
2012 Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, Dimauro S, ... ... Mootha VK, et al. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Science Translational Medicine. 4: 118ra10. PMID 22277967 DOI: 10.1126/Scitranslmed.3003310  0.813
2012 Lieber DS, Vafai SB, Horton LC, Slate NG, Liu S, Borowsky ML, Calvo SE, Schmahmann JD, Mootha VK. Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease. Bmc Medical Genetics. 13: 3. PMID 22226368 DOI: 10.1186/1471-2350-13-3  0.783
2012 Leoni V, Strittmatter L, Zorzi G, Zibordi F, Dusi S, Garavaglia B, Venco P, Caccia C, Souza AL, Deik A, Clish CB, Rimoldi M, Ciusani E, Bertini E, Nardocci N, ... Mootha VK, et al. Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations Molecular Genetics and Metabolism. 105: 463-471. PMID 22221393 DOI: 10.1016/j.ymgme.2011.12.005  0.317
2012 Garone C, Calvo S, Emmanuele V, Akman OH, Kaplan P, Krishna S, Mootha V, DiMauro S, Hirano M. MitoExome Sequencing Reveals a Mutation in the Mitochondrial MRPL51 Gene Causing Infantile Encephalopathy (P05.139) Neurology. 78: P05.139-P05.139. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P05.139  0.437
2012 Cooney JD, Hildick-Smith GJ, Garone C, Thon JN, Akman OH, Chen C, Shah DI, Branco DS, Miyata N, Freedman ML, Calvo SE, Mootha VK, Koehler CM, Italiano JE, Donati MA, et al. Megaloblastic Anemia and Mitochondriopathy Caused by a Homozygous Mutation in Sideroflexin-4. Blood. 120: 79-79. DOI: 10.1182/Blood.V120.21.79.79  0.404
2012 Strittmatter L, Leoni V, Zorzi G, Zibordi F, Dusi S, Garavaglia B, Venco P, Caccia C, Souza AL, Deik A, Clish CB, Rimoldi M, Ciusani E, Bertini E, Nardocci N, ... Mootha VK, et al. Global metabolic profiling reveals metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations Mitochondrion. 12: 577. DOI: 10.1016/j.mito.2012.07.069  0.325
2012 Lieber DS, Calvo SE, Slate NG, Liu S, Borowsky ML, Hershman SG, Gold NB, Berry GT, Mueller DM, Schmahmann JD, Sims KB, Mootha VK. Targeted exome sequencing of suspected mitochondrial disorders in a hospital-based cohort Mitochondrion. 12: 575-576. DOI: 10.1016/J.Mito.2012.07.065  0.794
2011 Tucker EJ, Hershman SG, Köhrer C, Belcher-Timme CA, Patel J, Goldberger OA, Christodoulou J, Silberstein JM, McKenzie M, Ryan MT, Compton AG, Jaffe JD, Carr SA, Calvo SE, RajBhandary UL, ... ... Mootha VK, et al. Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. Cell Metabolism. 14: 428-34. PMID 21907147 DOI: 10.1016/J.Mito.2012.07.084  0.802
2011 Baughman JM, Perocchi F, Girgis HS, Plovanich M, Belcher-Timme CA, Sancak Y, Bao XR, Strittmatter L, Goldberger O, Bogorad RL, Koteliansky V, Mootha VK. Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter. Nature. 476: 341-5. PMID 21685886 DOI: 10.1038/Nature10234  0.823
2011 Gohil VM, Offner N, Walker JA, Sheth SA, Fossale E, Gusella JF, MacDonald ME, Neri C, Mootha VK. Meclizine is neuroprotective in models of Huntington's disease. Human Molecular Genetics. 20: 294-300. PMID 20977989 DOI: 10.1093/Hmg/Ddq464  0.66
2010 Fassone E, Duncan AJ, Taanman JW, Pagnamenta AT, Sadowski MI, Holand T, Qasim W, Rutland P, Calvo SE, Mootha VK, Bitner-Glindzicz M, Rahman S. FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. Human Molecular Genetics. 19: 4837-47. PMID 20858599 DOI: 10.1093/hmg/ddq414  0.351
2010 Calvo SE, Tucker EJ, Compton AG, Kirby DM, Crawford G, Burtt NP, Rivas M, Guiducci C, Bruno DL, Goldberger OA, Redman MC, Wiltshire E, Wilson CJ, Altshuler D, Gabriel SB, ... ... Mootha VK, et al. High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nature Genetics. 42: 851-8. PMID 20818383 DOI: 10.1038/Ng.659  0.648
2010 Segrè AV, Groop L, Mootha VK, Daly MJ, Altshuler D. Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits. Plos Genetics. 6. PMID 20714348 DOI: 10.1371/Journal.Pgen.1001058  0.641
2010 Perocchi F, Gohil VM, Girgis HS, Bao XR, McCombs JE, Palmer AE, Mootha VK. MICU1 encodes a mitochondrial EF hand protein required for Ca(2+) uptake. Nature. 467: 291-6. PMID 20693986 DOI: 10.1038/Nature09358  0.714
2010 Calvo SE, Mootha VK. The mitochondrial proteome and human disease. Annual Review of Genomics and Human Genetics. 11: 25-44. PMID 20690818 DOI: 10.1097/01.Pat.0000461403.91531.Dd  0.527
2010 Gohil VM, Nilsson R, Belcher-Timme CA, Luo B, Root DE, Mootha VK. Mitochondrial and nuclear genomic responses to loss of LRPPRC expression. The Journal of Biological Chemistry. 285: 13742-7. PMID 20220140 DOI: 10.1074/Jbc.M109.098400  0.713
2010 Gohil VM, Sheth SA, Nilsson R, Wojtovich AP, Lee JH, Perocchi F, Chen W, Clish CB, Ayata C, Brookes PS, Mootha VK. Nutrient-sensitized screening for drugs that shift energy metabolism from mitochondrial respiration to glycolysis. Nature Biotechnology. 28: 249-55. PMID 20160716 DOI: 10.1038/Nbt.1606  0.675
2010 Baughman JM, Nilsson R, Gohil VM, Arlow DH, Gauhar Z, Mootha VK. Correction: A Computational Screen for Regulators of Oxidative Phosphorylation Implicates SLIRP in Mitochondrial RNA Homeostasis Plos Genetics. 6. DOI: 10.1371/annotation/36fe7624-0904-46d4-a013-4be6195245c4  0.675
2010 Tucker E, Compton A, McKenzie M, Calvo S, Pagliarini D, Mootha V, Ryan M, Thorburn D. 74 A splice-site mutation in C8orf38 causes impaired Complex I assembly due to a defect in translation or integration of ND1 into an early assembly intermediate Mitochondrion. 10: 221. DOI: 10.1016/J.Mito.2009.12.069  0.602
2009 Baughman JM, Nilsson R, Gohil VM, Arlow DH, Gauhar Z, Mootha VK. A computational screen for regulators of oxidative phosphorylation implicates SLIRP in mitochondrial RNA homeostasis. Plos Genetics. 5: e1000590. PMID 19680543 DOI: 10.1371/Journal.Pgen.1000590  0.822
2009 Nilsson R, Schultz IJ, Pierce EL, Soltis KA, Naranuntarat A, Ward DM, Baughman JM, Paradkar PN, Kingsley PD, Culotta VC, Kaplan J, Palis J, Paw BH, Mootha VK. Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis. Cell Metabolism. 10: 119-30. PMID 19656490 DOI: 10.1016/J.Cmet.2009.06.012  0.817
2009 Calvo SE, Pagliarini DJ, Mootha VK. Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans. Proceedings of the National Academy of Sciences of the United States of America. 106: 7507-12. PMID 19372376 DOI: 10.1073/Pnas.0810916106  0.587
2008 Sugiana C, Pagliarini DJ, McKenzie M, Kirby DM, Salemi R, Abu-Amero KK, Dahl HH, Hutchison WM, Vascotto KA, Smith SM, Newbold RF, Christodoulou J, Calvo S, Mootha VK, Ryan MT, et al. Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. American Journal of Human Genetics. 83: 468-78. PMID 18940309 DOI: 10.1016/J.Ajhg.2008.09.009  0.663
2008 Pagliarini DJ, Calvo SE, Chang B, Sheth SA, Vafai SB, Ong SE, Walford GA, Sugiana C, Boneh A, Chen WK, Hill DE, Vidal M, Evans JG, Thorburn DR, Carr SA, ... Mootha VK, et al. A mitochondrial protein compendium elucidates complex I disease biology. Cell. 134: 112-23. PMID 18614015 DOI: 10.1016/J.Cell.2008.06.016  0.689
2008 Mootha V. Vamsi Mootha: taking an inventory of mitochondria. Interview by Hema Bashyam. The Journal of Experimental Medicine. 205: 1248-9. PMID 18541715 DOI: 10.1084/jem.2056pi  0.319
2008 Wagner BK, Kitami T, Gilbert TJ, Peck D, Ramanathan A, Schreiber SL, Golub TR, Mootha VK. Large-scale chemical dissection of mitochondrial function. Nature Biotechnology. 26: 343-51. PMID 18297058 DOI: 10.1038/Nbt1387  0.822
2008 Wagner BK, Kitami T, Gilbert TJ, Peck D, Ramanathan A, Schreiber SL, Golub TR, Mootha VK. Large-scale chemical dissection of mitochondrial function (Nature Biotechnology (2008) 26 (343-351)) Nature Biotechnology. 26: 831. DOI: 10.1038/Nbt0708-831A  0.761
2007 Cunningham JT, Rodgers JT, Arlow DH, Vazquez F, Mootha VK, Puigserver P. mTOR controls mitochondrial oxidative function through a YY1-PGC-1alpha transcriptional complex. Nature. 450: 736-40. PMID 18046414 DOI: 10.1038/Nature06322  0.386
2007 Parikh H, Carlsson E, Chutkow WA, Johansson LE, Storgaard H, Poulsen P, Saxena R, Ladd C, Schulze PC, Mazzini MJ, Jensen CB, Krook A, Björnholm M, Tornqvist H, Zierath JR, ... ... Mootha VK, et al. TXNIP regulates peripheral glucose metabolism in humans. Plos Medicine. 4: e158. PMID 17472435 DOI: 10.1371/journal.pmed.0040158  0.406
2006 Baughman JM, Mootha VK. Buffering mitochondrial DNA variation. Nature Genetics. 38: 1232-3. PMID 17072298 DOI: 10.1038/Ng1106-1232  0.821
2006 Saxena R, de Bakker PI, Singer K, Mootha V, Burtt N, Hirschhorn JN, Gaudet D, Isomaa B, Daly MJ, Groop L, Ardlie KG, Altshuler D. Comprehensive association testing of common mitochondrial DNA variation in metabolic disease. American Journal of Human Genetics. 79: 54-61. PMID 16773565 DOI: 10.1086/504926  0.684
2006 Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rötig A, ... ... Mootha VK, et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nature Genetics. 38: 570-5. PMID 16582910 DOI: 10.1038/ng1765  0.406
2006 Calvo S, Jain M, Xie X, Sheth SA, Chang B, Goldberger OA, Spinazzola A, Zeviani M, Carr SA, Mootha VK. Systematic identification of human mitochondrial disease genes through integrative genomics. Nature Genetics. 38: 576-82. PMID 16582907 DOI: 10.1016/J.Mito.2007.08.068  0.452
2005 Subramanian A, Tamayo P, Mootha VK, Mukherjee S, Ebert BL, Gillette MA, Paulovich A, Pomeroy SL, Golub TR, Lander ES, Mesirov JP. Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proceedings of the National Academy of Sciences of the United States of America. 102: 15545-50. PMID 16199517 DOI: 10.1073/Pnas.0506580102  0.386
2005 Xie X, Lu J, Kulbokas EJ, Golub TR, Mootha V, Lindblad-Toh K, Lander ES, Kellis M. Systematic discovery of regulatory motifs in human promoters and 3' UTRs by comparison of several mammals. Nature. 434: 338-45. PMID 15735639 DOI: 10.1038/Nature03441  0.601
2004 Mootha VK, Handschin C, Arlow D, Xie X, St Pierre J, Sihag S, Yang W, Altshuler D, Puigserver P, Patterson N, Willy PJ, Schulman IG, Heyman RA, Lander ES, Spiegelman BM. Erralpha and Gabpa/b specify PGC-1alpha-dependent oxidative phosphorylation gene expression that is altered in diabetic muscle. Proceedings of the National Academy of Sciences of the United States of America. 101: 6570-5. PMID 15100410 DOI: 10.1073/Pnas.0401401101  0.552
2004 Mootha VK, Daly MJ, Patterson N, Hirschhorn JN, Groop LC, Altshuler D. Reply to "Statistical concerns about the GSEA procedure" Nature Genetics. 36: 663-663. DOI: 10.1038/Ng0704-663B  0.457
2003 Mootha VK, Bunkenborg J, Olsen JV, Hjerrild M, Wisniewski JR, Stahl E, Bolouri MS, Ray HN, Sihag S, Kamal M, Patterson N, Lander ES, Mann M. Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. Cell. 115: 629-40. PMID 14651853 DOI: 10.1016/S0092-8674(03)00926-7  0.556
2003 Mootha VK, Lindgren CM, Eriksson KF, Subramanian A, Sihag S, Lehar J, Puigserver P, Carlsson E, RidderstrÃ¥le M, Laurila E, Houstis N, Daly MJ, Patterson N, Mesirov JP, Golub TR, et al. PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nature Genetics. 34: 267-73. PMID 12808457 DOI: 10.1038/Ng1180  0.639
2003 Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, et al. Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proceedings of the National Academy of Sciences of the United States of America. 100: 605-10. PMID 12529507 DOI: 10.1073/Pnas.242716699  0.497
2001 Mootha VK, Wei MC, Buttle KF, Scorrano L, Panoutsakopoulou V, Mannella CA, Korsmeyer SJ. A reversible component of mitochondrial respiratory dysfunction in apoptosis can be rescued by exogenous cytochrome c. The Embo Journal. 20: 661-71. PMID 11179211 DOI: 10.1093/Emboj/20.4.661  0.332
2000 Vidal-Puig AJ, Grujic D, Zhang CY, Hagen T, Boss O, Ido Y, Szczepanik A, Wade J, Mootha V, Cortright R, Muoio DM, Lowell BB. Energy metabolism in uncoupling protein 3 gene knockout mice Journal of Biological Chemistry. 275: 16258-16266. PMID 10748196 DOI: 10.1074/Jbc.M910179199  0.425
1999 Wu Z, Puigserver P, Andersson U, Zhang C, Adelmant G, Mootha V, Troy A, Cinti S, Lowell B, Scarpulla RC, Spiegelman BM. Mechanisms controlling mitochondrial biogenesis and respiration through the thermogenic coactivator PGC-1. Cell. 98: 115-24. PMID 10412986 DOI: 10.1016/S0092-8674(00)80611-X  0.49
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