Vamsi Mootha - Publications

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

95 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any innacuracies, 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
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  0.36
2019 Lake NJ, Formosa LE, Stroud DA, Ryan MT, Calvo SE, Mootha VK, Morar B, Procopis PG, Christodoulou J, Compton AG, Thorburn DR. A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant. Human Mutation. PMID 30981218 DOI: 10.1002/humu.23753  0.36
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  0.36
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  0.36
2018 Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert 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. 102: 713. PMID 29625026 DOI: 10.1016/j.ajhg.2018.03.015  0.36
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: 10.1093/hmg/ddx314  0.36
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  0.36
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  0.36
2017 Li Y, Jourdain AA, Calvo SE, Liu JS, Mootha VK. CLIC, a tool for expanding biological pathways based on co-expression across thousands of datasets. Plos Computational Biology. 13: e1005653. PMID 28719601 DOI: 10.1371/journal.pcbi.1005653  0.36
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  0.36
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  0.36
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  0.36
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  0.36
2016 Oxenoid K, Dong Y, Cao C, Cui T, Sancak Y, Markhard AL, Grabarek Z, Kong L, Liu Z, Ouyang B, Cong Y, Mootha VK, Chou JJ. Architecture of the mitochondrial calcium uniporter. Nature. PMID 27135929 DOI: 10.1038/nature17656  0.36
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  0.36
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  0.36
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  0.36
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  0.36
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  0.36
2015 Kamer KJ, Mootha VK. The molecular era of the mitochondrial calcium uniporter Nature Reviews Molecular Cell Biology. 16: 545-553. PMID 26285678 DOI: 10.1038/nrm4039  0.36
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  0.36
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  0.36
2015 Lennerz BS, Vafai SB, Delaney NF, Clish CB, Deik AA, Pierce KA, Ludwig DS, Mootha VK. Effects of sodium benzoate, a widely used food preservative, on glucose homeostasis and metabolic profiles in humans. Molecular Genetics and Metabolism. 114: 73-9. PMID 25497115 DOI: 10.1016/j.ymgme.2014.11.010  0.36
2015 Lam SS, Martell JD, Kamer KJ, Deerinck TJ, Ellisman MH, Mootha VK, Ting AY. Directed evolution of APEX2 for electron microscopy and proximity labeling. Nature Methods. 12: 51-4. PMID 25419960 DOI: 10.1038/nmeth.3179  0.36
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  0.36
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  0.36
2014 Hung V, Zou P, Rhee HW, Udeshi ND, Cracan V, Svinkina T, Carr SA, Mootha VK, Ting AY. Proteomic mapping of the human mitochondrial intermembrane space in live cells via ratiometric APEX tagging. Molecular Cell. 55: 332-41. PMID 25002142 DOI: 10.1016/j.molcel.2014.06.003  0.36
2014 Li Y, Calvo SE, Gutman R, Liu JS, Mootha VK. Expansion of biological pathways based on evolutionary inference. Cell. 158: 213-25. PMID 24995987 DOI: 10.1016/j.cell.2014.05.034  0.36
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  0.36
2014 Kamer KJ, Sancak Y, Mootha VK. The uniporter: from newly identified parts to function. Biochemical and Biophysical Research Communications. 449: 370-2. PMID 24814702 DOI: 10.1016/j.bbrc.2014.04.143  0.36
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  0.36
2014 Jain M, Ngoy S, Sheth SA, Swanson RA, Rhee EP, Liao R, Clish CB, Mootha VK, Nilsson R. A systematic survey of lipids across mouse tissues. American Journal of Physiology. Endocrinology and Metabolism. 306: E854-68. PMID 24518676 DOI: 10.1152/ajpendo.00371.2013  0.36
2014 Kamer KJ, Mootha VK. MICU1 and MICU2 play nonredundant roles in the regulation of the mitochondrial calcium uniporter. Embo Reports. 15: 299-307. PMID 24503055 DOI: 10.1002/embr.201337946  0.36
2014 Nilsson R, Jain M, Madhusudhan N, Sheppard NG, Strittmatter L, Kampf C, Huang J, Asplund A, Mootha VK. Metabolic enzyme expression highlights a key role for MTHFD2 and the mitochondrial folate pathway in cancer. Nature Communications. 5: 3128. PMID 24451681 DOI: 10.1038/ncomms4128  0.36
2014 Strittmatter L, Li Y, Nakatsuka NJ, Calvo SE, Grabarek Z, Mootha VK. CLYBL is a polymorphic human enzyme with malate synthase and β-methylmalate synthase activity. Human Molecular Genetics. 23: 2313-23. PMID 24334609 DOI: 10.1093/hmg/ddt624  0.36
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  0.36
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  0.36
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  0.36
2013 Chakravarti A, Clark AG, Mootha VK. Distilling pathophysiology from complex disease genetics. Cell. 155: 21-6. PMID 24074858 DOI: 10.1016/j.cell.2013.09.001  0.36
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  0.36
2013 Lim SC, Friemel M, Marum JE, Tucker EJ, Bruno DL, Riley LG, Christodoulou J, Kirk EP, Boneh A, DeGennaro CM, Springer M, Mootha VK, Rouault TA, Leimkühler S, Thorburn DR, et al. Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes. Human Molecular Genetics. 22: 4460-73. PMID 23814038 DOI: 10.1093/hmg/ddt295  0.36
2013 Chaudhuri D, Sancak Y, Mootha VK, Clapham DE. MCU encodes the pore conducting mitochondrial calcium currents. Elife. 2: e00704. PMID 23755363 DOI: 10.7554/eLife.00704  0.36
2013 Csordás G, Golenár T, Seifert EL, Kamer KJ, Sancak Y, Perocchi F, Moffat C, Weaver D, de la Fuente Perez S, Bogorad R, Koteliansky V, Adijanto J, Mootha VK, Hajnóczky G. MICU1 controls both the threshold and cooperative activation of the mitochondrial Ca²⁺ uniporter. Cell Metabolism. 17: 976-87. PMID 23747253 DOI: 10.1016/j.cmet.2013.04.020  0.36
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  0.36
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  0.36
2013 Rhee HW, Zou P, Udeshi ND, Martell JD, Mootha VK, Carr SA, Ting AY. Proteomic mapping of mitochondria in living cells via spatially restricted enzymatic tagging. Science (New York, N.Y.). 339: 1328-31. PMID 23371551 DOI: 10.1126/science.1230593  0.36
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  0.36
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  0.36
2012 Martell JD, Deerinck TJ, Sancak Y, Poulos TL, Mootha VK, Sosinsky GE, Ellisman MH, Ting AY. Engineered ascorbate peroxidase as a genetically encoded reporter for electron microscopy. Nature Biotechnology. 30: 1143-8. PMID 23086203 DOI: 10.1038/nbt.2375  0.36
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  0.36
2012 Ye L, Kleiner S, Wu J, Sah R, Gupta RK, Banks AS, Cohen P, Khandekar MJ, Boström P, Mepani RJ, Laznik D, Kamenecka TM, Song X, Liedtke W, Mootha VK, et al. TRPV4 is a regulator of adipose oxidative metabolism, inflammation, and energy homeostasis. Cell. 151: 96-110. PMID 23021218 DOI: 10.1016/j.cell.2012.08.034  0.36
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  0.36
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  0.36
2012 Bick AG, Calvo SE, Mootha VK. Evolutionary diversity of the mitochondrial calcium uniporter. Science (New York, N.Y.). 336: 886. PMID 22605770 DOI: 10.1126/science.1214977  0.36
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  0.36
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  0.36
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  0.36
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  0.36
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.cmet.2011.07.010  0.36
2011 Wagner BK, Gilbert TJ, Hanai J, Imamura S, Bodycombe NE, Bon RS, Waldmann H, Clemons PA, Sukhatme VP, Mootha VK. A small-molecule screening strategy to identify suppressors of statin myopathy. Acs Chemical Biology. 6: 900-4. PMID 21732624 DOI: 10.1021/cb200206w  0.36
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  0.36
2011 Wang TJ, Larson MG, Vasan RS, Cheng S, Rhee EP, McCabe E, Lewis GD, Fox CS, Jacques PF, Fernandez C, O'Donnell CJ, Carr SA, Mootha VK, Florez JC, Souza A, et al. Metabolite profiles and the risk of developing diabetes. Nature Medicine. 17: 448-53. PMID 21423183 DOI: 10.1038/nm.2307  0.36
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  0.36
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  0.36
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  0.36
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  0.36
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  0.36
2010 Calvo SE, Mootha VK. The mitochondrial proteome and human disease. Annual Review of Genomics and Human Genetics. 11: 25-44. PMID 20690818 DOI: 10.1146/annurev-genom-082509-141720  0.36
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  0.36
2010 Setoguchi S, Higgins JM, Mogun H, Mootha VK, Avorn J. Propranolol and the risk of hospitalized myopathy: translating chemical genomics findings into population-level hypotheses. American Heart Journal. 159: 428-33. PMID 20211305 DOI: 10.1016/j.ahj.2009.12.008  0.36
2010 Charest-Marcotte A, Dufour CR, Wilson BJ, Tremblay AM, Eichner LJ, Arlow DH, Mootha VK, Giguère V. The homeobox protein Prox1 is a negative modulator of ERR{alpha}/PGC-1{alpha} bioenergetic functions. Genes & Development. 24: 537-42. PMID 20194433 DOI: 10.1101/gad.1871610  0.36
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  0.36
2010 Mootha VK, Hirschhorn JN. Inborn variation in metabolism. Nature Genetics. 42: 97-8. PMID 20104246 DOI: 10.1038/ng0210-97  0.36
2010 Shaham O, Slate NG, Goldberger O, Xu Q, Ramanathan A, Souza AL, Clish CB, Sims KB, Mootha VK. A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells. Proceedings of the National Academy of Sciences of the United States of America. 107: 1571-5. PMID 20080599 DOI: 10.1073/pnas.0906039107  0.36
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  0.6
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  0.36
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  0.36
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  0.36
2008 Lewis GD, Wei R, Liu E, Yang E, Shi X, Martinovic M, Farrell L, Asnani A, Cyrille M, Ramanathan A, Shaham O, Berriz G, Lowry PA, Palacios IF, Ta?an M, ... ... Mootha VK, et al. Metabolite profiling of blood from individuals undergoing planned myocardial infarction reveals early markers of myocardial injury. The Journal of Clinical Investigation. 118: 3503-12. PMID 18769631 DOI: 10.1172/JCI35111  0.36
2008 Shaham O, Wei R, Wang TJ, Ricciardi C, Lewis GD, Vasan RS, Carr SA, Thadhani R, Gerszten RE, Mootha VK. Metabolic profiling of the human response to a glucose challenge reveals distinct axes of insulin sensitivity. Molecular Systems Biology. 4: 214. PMID 18682704 DOI: 10.1038/msb.2008.50  0.36
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  0.36
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  0.36
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  0.36
2007 Handschin C, Choi CS, Chin S, Kim S, Kawamori D, Kurpad AJ, Neubauer N, Hu J, Mootha VK, Kim YB, Kulkarni RN, Shulman GI, Spiegelman BM. Abnormal glucose homeostasis in skeletal muscle-specific PGC-1alpha knockout mice reveals skeletal muscle-pancreatic beta cell crosstalk. The Journal of Clinical Investigation. 117: 3463-74. PMID 17932564 DOI: 10.1172/JCI31785  0.36
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  0.36
2006 Baughman JM, Mootha VK. Buffering mitochondrial DNA variation. Nature Genetics. 38: 1232-3. PMID 17072298 DOI: 10.1038/ng1106-1232  0.6
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  0.36
2006 Foster LJ, de Hoog CL, Zhang Y, Zhang Y, Xie X, Mootha VK, Mann M. A mammalian organelle map by protein correlation profiling. Cell. 125: 187-99. PMID 16615899 DOI: 10.1016/j.cell.2006.03.022  0.36
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: 10.1038/ng1776  0.36
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  0.36
2005 Giallourakis C, Henson C, Reich M, Xie X, Mootha VK. Disease gene discovery through integrative genomics. Annual Review of Genomics and Human Genetics. 6: 381-406. PMID 16124867 DOI: 10.1146/annurev.genom.6.080604.162234  0.36
2004 Lin J, Wu PH, Tarr PT, Lindenberg KS, St-Pierre J, Zhang CY, Mootha VK, Jäger S, Vianna CR, Reznick RM, Cui L, Manieri M, Donovan MX, Wu Z, Cooper MP, et al. Defects in adaptive energy metabolism with CNS-linked hyperactivity in PGC-1alpha null mice. Cell. 119: 121-35. PMID 15454086 DOI: 10.1016/j.cell.2004.09.013  0.36
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  0.36
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  0.36
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  0.36
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