Year |
Citation |
Score |
2024 |
Meisel JD, Wiesenthal PP, Mootha VK, Ruvkun G. CMTR-1 RNA methyltransferase mutations activate widespread expression of a dopaminergic neuron-specific mitochondrial complex I gene. Current Biology : Cb. PMID 38810637 DOI: 10.1016/j.cub.2024.04.079 |
0.305 |
|
2024 |
Lee JH, Gohil VM, Heidari P, Seidel JL, Zulkifli M, Wei Y, Ji Y, Daneshmand A, Mahmood U, Clish CB, Mootha VK, Ayata C. Mechanism of Action and Translational Potential of ()-Meclizine in Preemptive Prophylaxis Against Stroke. Stroke. PMID 38572656 DOI: 10.1161/STROKEAHA.123.044397 |
0.677 |
|
2024 |
Walker MA, Li S, Livak KJ, Karaa A, Wu CJ, Mootha VK. T cell activation contributes to purifying selection against the MELAS-associated m.3243A>G pathogenic variant in blood. Journal of Inherited Metabolic Disease. PMID 38499449 DOI: 10.1002/jimd.12726 |
0.484 |
|
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 |
0.723 |
|
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 |
0.428 |
|
2024 |
Meisel JD, Miranda M, Skinner OS, Wiesenthal PP, Wellner SM, Jourdain AA, Ruvkun G, Mootha VK. Hypoxia and intra-complex genetic suppressors rescue complex I mutants by a shared mechanism. Cell. PMID 38215760 DOI: 10.1016/j.cell.2023.12.010 |
0.681 |
|
2024 |
Ast T, Itoh Y, Sadre S, McCoy JG, Namkoong G, Wengrod JC, Chicherin I, Joshi PR, Kamenski P, Suess DLM, Amunts A, Mootha VK. METTL17 is an Fe-S cluster checkpoint for mitochondrial translation. Molecular Cell. PMID 38199006 DOI: 10.1016/j.molcel.2023.12.016 |
0.746 |
|
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 |
0.717 |
|
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 |
0.739 |
|
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 |
0.383 |
|
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 |
0.305 |
|
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 |
0.408 |
|
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 |
0.49 |
|
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 |
0.668 |
|
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 |
0.576 |
|
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 |
0.323 |
|
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 |
0.324 |
|
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 |
0.536 |
|
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 |
0.747 |
|
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 |
0.719 |
|
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 |
0.358 |
|
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 |
0.318 |
|
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 |
0.794 |
|
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 |
0.695 |
|
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 |
0.804 |
|
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 |
0.359 |
|
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 |
0.617 |
|
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 |
0.37 |
|
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 |
0.697 |
|
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 |
0.821 |
|
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 |
0.695 |
|
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 |
0.794 |
|
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 |
0.796 |
|
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 |
0.707 |
|
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 |
0.448 |
|
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 |
0.43 |
|
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 |
0.74 |
|
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 |
0.522 |
|
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 |
0.745 |
|
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 |
0.41 |
|
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 |
0.67 |
|
2018 |
Gray MW, Mootha VK. Evolutionary mitochondrial biology in titisee. Iubmb Life. PMID 30358089 DOI: 10.1002/Iub.1958 |
0.401 |
|
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 |
0.347 |
|
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 |
0.751 |
|
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 |
0.432 |
|
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 |
0.365 |
|
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 |
0.564 |
|
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 |
0.708 |
|
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 |
0.392 |
|
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 |
0.776 |
|
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 |
0.438 |
|
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 |
0.724 |
|
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 |
0.344 |
|
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 |
0.573 |
|
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 |
0.383 |
|
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 |
0.389 |
|
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 |
0.398 |
|
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 |
0.709 |
|
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 |
0.401 |
|
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 |
0.376 |
|
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 |
0.679 |
|
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 |
0.504 |
|
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 |
0.387 |
|
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 |
0.337 |
|
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 |
0.478 |
|
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 |
0.435 |
|
2015 |
Mootha V. Metabolic profiling of mitochondrial disease at rest and with exercise Pathology. 47: S29. DOI: 10.1097/01.Pat.0000461410.11724.5F |
0.507 |
|
2015 |
Mootha VK. Integrative genomics of mitochondrial disease Mitochondrion. 24: S3. DOI: 10.1016/j.mito.2015.07.015 |
0.323 |
|
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 |
0.326 |
|
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 |
0.316 |
|
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 |
0.769 |
|
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 |
0.703 |
|
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 |
0.384 |
|
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 |
0.347 |
|
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 |
0.807 |
|
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 |
0.328 |
|
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 |
0.683 |
|
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 |
0.415 |
|
2013 |
Mootha V. The Mitochondrial Uniporter: From Molecular Discovery to Physiology Biophysical Journal. 104: 2a. DOI: 10.1016/J.Bpj.2012.11.025 |
0.46 |
|
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 |
0.386 |
|
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 |
0.321 |
|
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 |
0.782 |
|
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 |
0.312 |
|
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 |
0.434 |
|
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 |
0.4 |
|
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 |
0.321 |
|
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 |
0.795 |
|
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 |
0.797 |
|
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 |
0.658 |
|
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 |
0.35 |
|
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 |
0.645 |
|
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 |
0.638 |
|
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 |
0.712 |
|
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 |
0.524 |
|
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 |
0.709 |
|
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 |
0.673 |
|
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 |
0.673 |
|
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 |
0.599 |
|
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 |
0.818 |
|
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 |
0.581 |
|
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 |
0.66 |
|
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 |
0.685 |
|
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 |
0.318 |
|
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 |
0.762 |
|
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 |
0.383 |
|
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 |
0.404 |
|
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 |
0.681 |
|
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 |
0.4 |
|
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 |
0.446 |
|
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 |
0.382 |
|
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 |
0.595 |
|
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 |
0.551 |
|
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 |
0.455 |
|
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 |
0.553 |
|
2003 |
Mootha VK, Lindgren CM, Eriksson KF, Subramanian A, Sihag S, Lehar J, Puigserver P, Carlsson E, Ridderstråle 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 |
0.635 |
|
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 |
0.492 |
|
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 |
0.423 |
|
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 |
0.489 |
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