Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Vamsi Krishna Mootha, M.D.

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Institution
Department
Address
Phone
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Other Positions
Title
Institution
Department

Mentoring
completed student projects
An integrated approach to the genetic diagnosis of mitochondrial disorders
Summer, 06/13/11 - 08/08/11
Reconstruction of the Mammalian Coenzyme Q Biosynthetic Pathway
Summer, 06/20/05 - 08/12/05
Characterizing the Effects of WFS1 Disruption on Protein Interactions and Mitochondrial Function
Summer, 05/24/10 - 09/01/10

Research
research activities and funding
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
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  1. R35GM122455 (MOOTHA, VAMSI KRISHNA) May 29, 2017 - Apr 30, 2022
    NIH/NIGMS
    Mitochondrial Parts, Pathways, and Pathogenesis
    Role: Principal Investigator
  2. R01HL130143 (CHOU, JAMES J) Feb 1, 2017 - Jan 31, 2021
    NIH/NHLBI
    Molecular Architecture Of The Mitochondrial Calcium Uniporter
    Role: Co-Principal Investigator
  3. R01GM099683 (MOOTHA, VAMSI KRISHNA) Sep 30, 2011 - Aug 31, 2016
    NIH/NIGMS
    Molecular prostheses for mitochondrial disorders
    Role: Principal Investigator
  4. R01GM097136 (MOOTHA, VAMSI KRISHNA) Jun 15, 2011 - May 31, 2015
    NIH/NIGMS
    Human Mitochondrial Disease: From Novel Gene Variants to Causality and Function
    Role: Principal Investigator
  5. RC2HG005556 (MOOTHA, VAMSI KRISHNA) Sep 30, 2009 - Aug 31, 2012
    NIH/NHGRI
    Defining the genetic basis of human respiratory chain disease
    Role: Principal Investigator

Bibliographic
selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. 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. Am J Physiol Lung Cell Mol Physiol. 2018 Dec 06. PMID: 30520688.
    View in: PubMed
  2. Gray MW, Mootha VK. Evolutionary mitochondrial biology in titisee. IUBMB Life. 2018 Dec; 70(12):1184-1187. PMID: 30358089.
    View in: PubMed
  3. Nguyen NX, Armache JP, Lee C, Yang Y, Zeng W, Mootha VK, Cheng Y, Bai XC, Jiang Y. Author Correction: Cryo-EM structure of a fungal mitochondrial calcium uniporter. Nature. 2018 Oct; 562(7728):E25. PMID: 30108362.
    View in: PubMed
  4. 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, Arndt PF, Mordecai S, Shih AR, Chaves F, Zhan T, Lubitz CC, Kim J, Iafrate AJ, Wirth L, Parangi S, Leshchiner I, Daniels GH, Mootha VK, Dias-Santagata D, Getz G, McFadden DG. Widespread Chromosomal Losses and Mitochondrial DNA Alterations as Genetic Drivers in Hürthle Cell Carcinoma. Cancer Cell. 2018 Aug 13; 34(2):242-255.e5. PMID: 30107175.
    View in: PubMed
  5. Kamer KJ, Sancak Y, Fomina Y, Meisel JD, Chaudhuri D, Grabarek Z, Mootha VK. MICU1 imparts the mitochondrial uniporter with the ability to discriminate between Ca2+ and Mn2+. Proc Natl Acad Sci U S A. 2018 08 21; 115(34):E7960-E7969. PMID: 30082385.
    View in: PubMed
  6. Nguyen NX, Armache JP, Lee C, Yang Y, Zeng W, Mootha VK, Cheng Y, Bai XC, Jiang Y. Cryo-EM structure of a fungal mitochondrial calcium uniporter. Nature. 2018 Jul; 559(7715):570-574. PMID: 29995855.
    View in: PubMed
  7. 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. Proc Natl Acad Sci U S A. 2018 07 03; 115(27):E6283-E6290. PMID: 29915083.
    View in: PubMed
  8. Mootha VK, Chinnery PF. Oxygen in mitochondrial disease: can there be too much of a good thing? J Inherit Metab Dis. 2018 Sep; 41(5):761-763. PMID: 29948481.
    View in: PubMed
  9. Musa S, Eyaid W, Kamer K, Ali R, Al-Mureikhi M, Shahbeck N, Al Mesaifri F, Makhseed N, Mohamed Z, AlShehhi WA, Mootha VK, Juusola J, Ben-Omran T. A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients. JIMD Rep. 2019; 43:79-83. PMID: 29721912.
    View in: PubMed
  10. 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, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. Am J Hum Genet. 2018 04 05; 102(4):713. PMID: 29625026.
    View in: PubMed
  11. Goodman RP, Calvo SE, Mootha VK. Spatiotemporal compartmentalization of hepatic NADH and NADPH metabolism. J Biol Chem. 2018 05 18; 293(20):7508-7516. PMID: 29514978.
    View in: PubMed
  12. 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, Ivanov AR, Jensen ON, Jewett MC, Kelleher NL, Kiessling LL, Krogan NJ, Larsen MR, Loo JA, Ogorzalek Loo RR, Lundberg E, MacCoss MJ, Mallick P, Mootha VK, Mrksich M, Muir TW, Patrie SM, Pesavento JJ, Pitteri SJ, Rodriguez H, Saghatelian A, Sandoval W, Schlüter H, Sechi S, Slavoff SA, Smith LM, Snyder MP, Thomas PM, Uhlén M, Van Eyk JE, Vidal M, Walt DR, White FM, Williams ER, Wohlschlager T, Wysocki VH, Yates NA, Young NL, Zhang B. How many human proteoforms are there? Nat Chem Biol. 2018 Feb 14; 14(3):206-214. PMID: 29443976.
    View in: PubMed
  13. Siegmund SE, 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. Hum Mol Genet. 2017 12 01; 26(23):4588-4605. PMID: 28973153.
    View in: PubMed
  14. 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, Minczuk M. Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome. Hum Mol Genet. 2017 11 01; 26(21):4257-4266. PMID: 28973171.
    View in: PubMed
  15. 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. 2017 Nov 02; 171(4):771-782.e11. PMID: 29056341.
    View in: PubMed
  16. 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. Nat Methods. 2017 Dec; 14(12):1167-1170. PMID: 29039416.
    View in: PubMed
  17. Bick AG, Wakimoto H, Kamer KJ, Sancak Y, Goldberger O, Axelsson A, DeLaughter DM, Gorham JM, Mootha VK, Seidman JG, Seidman CE. Cardiovascular homeostasis dependence on MICU2, a regulatory subunit of the mitochondrial calcium uniporter. Proc Natl Acad Sci U S A. 2017 10 24; 114(43):E9096-E9104. PMID: 29073106.
    View in: PubMed
  18. 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, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. Am J Hum Genet. 2017 Oct 05; 101(4):525-538. PMID: 28942965.
    View in: PubMed
  19. Cracan V, Titov DV, Shen H, Grabarek Z, Mootha VK. A genetically encoded tool for manipulation of NADP+/NADPH in living cells. Nat Chem Biol. 2017 Oct; 13(10):1088-1095. PMID: 28805804.
    View in: PubMed
  20. 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, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. Am J Hum Genet. 2017 Aug 03; 101(2):239-254. PMID: 28777931.
    View in: PubMed
  21. 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 Comput Biol. 2017 Jul; 13(7):e1005653. PMID: 28719601.
    View in: PubMed
  22. Delaney NF, Sharma R, Tadvalkar L, Clish CB, Haller RG, Mootha VK. Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy. Proc Natl Acad Sci U S A. 2017 08 01; 114(31):8402-8407. PMID: 28716914.
    View in: PubMed
  23. Kamer KJ, Grabarek Z, Mootha VK. High-affinity cooperative Ca2+ binding by MICU1-MICU2 serves as an on-off switch for the uniporter. EMBO Rep. 2017 08; 18(8):1397-1411. PMID: 28615291.
    View in: PubMed
  24. Ferrari M, Jain IH, Goldberger O, Rezoagli E, Thoonen R, Cheng KH, Sosnovik DE, Scherrer-Crosbie M, Mootha VK, Zapol WM. Hypoxia treatment reverses neurodegenerative disease in a mouse model of Leigh syndrome. Proc Natl Acad Sci U S A. 2017 05 23; 114(21):E4241-E4250. PMID: 28483998.
    View in: PubMed
  25. Hung V, Lam SS, Udeshi ND, Svinkina T, Guzman G, Mootha VK, Carr SA, Ting AY. Proteomic mapping of cytosol-facing outer mitochondrial and ER membranes in living human cells by proximity biotinylation. Elife. 2017 04 25; 6. PMID: 28441135.
    View in: PubMed
  26. 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. Mol Cell Proteomics. 2017 04; 16(4):512-523. PMID: 28122942.
    View in: PubMed
  27. 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 Metab. 2016 12 13; 24(6):875-885. PMID: 27667664.
    View in: PubMed
  28. Vafai SB, Mevers E, Higgins KW, Fomina Y, Zhang J, Mandinova A, Newman D, Shaw SY, Clardy J, Mootha VK. Natural Product Screening Reveals Naphthoquinone Complex I Bypass Factors. PLoS One. 2016; 11(9):e0162686. PMID: 27622560; PMCID: PMC5021346.
    View in: PubMed, PubMed Central
  29. 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. EMBO J. 2016 09 15; 35(18):1979-90. PMID: 27436875.
    View in: PubMed
  30. 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. 2016 06 16; 5. PMID: 27307216.
    View in: PubMed
  31. 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. 2016 05 12; 533(7602):269-73. PMID: 27135929.
    View in: PubMed
  32. 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. 2016 Apr 08; 352(6282):231-5. PMID: 27124460; PMCID: PMC4850741 [Available on 10/08/16].
    View in: PubMed, PubMed Central
  33. 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. Neurol Genet. 2016 Apr; 2(2):e59. PMID: 27123478.
    View in: PubMed
  34. 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. 2016 Apr 01; 352(6281):54-61. PMID: 26917594; PMCID: PMC4860742 [Available on 10/01/16].
    View in: PubMed, PubMed Central
  35. Rietman A, Stanley TL, Clish C, Mootha V, Mensink M, Grinspoon SK, Makimura H. Associations between plasma branched-chain amino acids, ß-aminoisobutyric acid and body composition. J Nutr Sci. 2016; 5:e6. PMID: 27313851; PMCID: PMC4791517.
    View in: PubMed, PubMed Central
  36. Chen H, Ren S, Clish C, Jain M, Mootha V, McCaffery JM, Chan DC. Titration of mitochondrial fusion rescues Mff-deficient cardiomyopathy. J Cell Biol. 2015 Nov 23; 211(4):795-805. PMID: 26598616; PMCID: PMC4657172.
    View in: PubMed, PubMed Central
  37. 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, Rioux JD, Mootha VK, Des Rosiers C. A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome Cell Rep. 2015 11 03; 13(5):981-9. PMID: 26565911.
    View in: PubMed
  38. Calvo SE, Clauser KR, Mootha VK. MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins. Nucleic Acids Res. 2016 Jan 04; 44(D1):D1251-7. PMID: 26450961.
    View in: PubMed
  39. Kamer KJ, Mootha VK. The molecular era of the mitochondrial calcium uniporter. Nat Rev Mol Cell Biol. 2015 Sep; 16(9):545-53. PMID: 26285678.
    View in: PubMed
  40. 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. 2015 Sep; 2(9):1090-101. PMID: 26501107; PMCID: PMC4588407.
    View in: PubMed, PubMed Central
  41. 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. Hum Mol Genet. 2015 Jul 15; 24(14):4183. PMID: 26022995; PMCID: PMC4476455.
    View in: PubMed, PubMed Central
  42. 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 Metab. 2015 Apr 07; 21(4):609-21. PMID: 25863250; PMCID: PMC4663978.
    View in: PubMed, PubMed Central
  43. Lam SS, Martell JD, Kamer KJ, Deerinck TJ, Ellisman MH, Mootha VK, Ting AY. Directed evolution of APEX2 for electron microscopy and proximity labeling. Nat Methods. 2015 Jan; 12(1):51-4. PMID: 25419960; PMCID: PMC4296904.
    View in: PubMed, PubMed Central
  44. 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. Mol Genet Metab. 2015 Jan; 114(1):73-9. PMID: 25497115; PMCID: PMC4289147.
    View in: PubMed, PubMed Central
  45. 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. J Biol Chem. 2014 Nov 21; 289(47):32729-41. PMID: 25288793.
    View in: PubMed
  46. 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. 2015 Jan; 16(1):1-9. PMID: 25193783; PMCID: PMC4796476.
    View in: PubMed, PubMed Central
  47. 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. Mol Cell. 2014 Jul 17; 55(2):332-41. PMID: 25002142; PMCID: PMC4743503.
    View in: PubMed, PubMed Central
  48. Li Y, Calvo SE, Gutman R, Liu JS, Mootha VK. Expansion of biological pathways based on evolutionary inference. Cell. 2014 Jul 03; 158(1):213-25. PMID: 24995987; PMCID: PMC4171950.
    View in: PubMed, PubMed Central
  49. 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. Proc Natl Acad Sci U S A. 2014 Jun 17; 111(24):8985-90. PMID: 24889638; PMCID: PMC4066498.
    View in: PubMed, PubMed Central
  50. Kamer KJ, Sancak Y, Mootha VK. The uniporter: from newly identified parts to function. Biochem Biophys Res Commun. 2014 Jul 11; 449(4):370-2. PMID: 24814702.
    View in: PubMed
  51. Wolf AR, Mootha VK. Functional genomic analysis of human mitochondrial RNA processing. Cell Rep. 2014 May 08; 7(3):918-31. PMID: 24746820; PMCID: PMC4289146.
    View in: PubMed, PubMed Central
  52. 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 Med Genet. 2014 Mar 06; 15:30. PMID: 24602372; PMCID: PMC4015298.
    View in: PubMed, PubMed Central
  53. 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. Am J Physiol Endocrinol Metab. 2014 Apr 15; 306(8):E854-68. PMID: 24518676; PMCID: PMC3989739.
    View in: PubMed, PubMed Central
  54. Kamer KJ, Mootha VK. MICU1 and MICU2 play nonredundant roles in the regulation of the mitochondrial calcium uniporter. EMBO Rep. 2014 Mar; 15(3):299-307. PMID: 24503055; PMCID: PMC3989696.
    View in: PubMed, PubMed Central
  55. 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. Nat Commun. 2014; 5:3128. PMID: 24451681; PMCID: PMC4106362.
    View in: PubMed, PubMed Central
  56. Vafai SB, Mootha VK. Medicine. A common pathway for a rare disease? Science. 2013 Dec 20; 342(6165):1453-4. PMID: 24357304.
    View in: PubMed
  57. Strittmatter L, Li Y, Nakatsuka NJ, Calvo SE, Grabarek Z, Mootha VK. CLYBL is a polymorphic human enzyme with malate synthase and ß-methylmalate synthase activity. Hum Mol Genet. 2014 May 01; 23(9):2313-23. PMID: 24334609; PMCID: PMC3976331.
    View in: PubMed, PubMed Central
  58. 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. 2013 Dec 13; 342(6164):1379-82. PMID: 24231807; PMCID: PMC4091629.
    View in: PubMed, PubMed Central
  59. 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. J Biol Chem. 2013 Dec 06; 288(49):35387-95. PMID: 24142790; PMCID: PMC3853286.
    View in: PubMed, PubMed Central
  60. 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, Koehler CM, Italiano JE, Merkenschlager A, Beblo S, Strom TM, Meitinger T, Freisinger P, Donati MA, Prokisch H, Mootha VK, DiMauro S, Paw BH. Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. Am J Hum Genet. 2013 Nov 07; 93(5):906-14. PMID: 24119684; PMCID: PMC3824126.
    View in: PubMed, PubMed Central
  61. Chakravarti A, Clark AG, Mootha VK. Distilling pathophysiology from complex disease genetics. Cell. 2013 Sep 26; 155(1):21-6. PMID: 24074858; PMCID: PMC4244836.
    View in: PubMed, PubMed Central
  62. 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 Neurol. 2013 Sep 01; 70(9):1177-9. PMID: 23836383; PMCID: PMC3891824.
    View in: PubMed, PubMed Central
  63. 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, Smeitink J, Chinnery PF. New treatments for mitochondrial disease-no time to drop our standards. Nat Rev Neurol. 2013 Aug; 9(8):474-81. PMID: 23817350.
    View in: PubMed
  64. 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, Compton AG. Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes. Hum Mol Genet. 2013 Nov 15; 22(22):4460-73. PMID: 23814038; PMCID: PMC3888131.
    View in: PubMed, PubMed Central
  65. 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 Metab. 2013 Jun 04; 17(6):976-87. PMID: 23747253; PMCID: PMC3722067.
    View in: PubMed, PubMed Central
  66. Chaudhuri D, Sancak Y, Mootha VK, Clapham DE. MCU encodes the pore conducting mitochondrial calcium currents. Elife. 2013 Jun 04; 2:e00704. PMID: 23755363; PMCID: PMC3673318.
    View in: PubMed, PubMed Central
  67. Singh N, Mootha VK, Madan K, Aggarwal AN, Behera D. Tumor cavitation among lung cancer patients receiving first-line chemotherapy at a tertiary care centre in India: association with histology and overall survival. Med Oncol. 2013; 30(3):602. PMID: 23673987.
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  68. 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. 2013 May 07; 80(19):1762-70. PMID: 23596069; PMCID: PMC3719425.
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  69. 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. 2013; 8(2):e55785. PMID: 23409044; PMCID: PMC3567112.
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  70. 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. 2013 Mar 15; 339(6125):1328-1331. PMID: 23371551; PMCID: PMC3916822.
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  71. 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, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H. Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet. 2013 Feb; 45(2):214-9. PMID: 23313956; PMCID: PMC3678843.
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  72. 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 Rep. 2013 Jan 31; 3(1):237-45. PMID: 23318259; PMCID: PMC3812070.
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  73. 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. Arch Neurol. 2012 Dec; 69(12):1648-51. PMID: 22964873; PMCID: PMC3894685.
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  74. Vafai SB, Mootha VK. Mitochondrial disorders as windows into an ancient organelle. Nature. 2012 Nov 15; 491(7424):374-83. PMID: 23151580.
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  75. 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. Nat Biotechnol. 2012 Nov; 30(11):1143-8. PMID: 23086203; PMCID: PMC3699407.
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  76. 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, Comi GP, Sciacco M. Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain. 2012 Nov; 135(Pt 11):3404-15. PMID: 23043144; PMCID: PMC3501975.
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  77. 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, Puigserver P, Griffin PR, Clapham DE, Spiegelman BM. TRPV4 is a regulator of adipose oxidative metabolism, inflammation, and energy homeostasis. Cell. 2012 Sep 28; 151(1):96-110. PMID: 23021218; PMCID: PMC3477522.
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  78. McCormack SE, Shaham O, McCarthy MA, Deik AA, Wang TJ, Gerszten RE, Clish CB, Mootha VK, Grinspoon SK, Fleischman A. Circulating branched-chain amino acid concentrations are associated with obesity and future insulin resistance in children and adolescents. Pediatr Obes. 2013 Feb; 8(1):52-61. PMID: 22961720.
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  79. 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. 2012 May 25; 336(6084):1040-4. PMID: 22628656.
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  80. Bick AG, Calvo SE, Mootha VK. Evolutionary diversity of the mitochondrial calcium uniporter. Science. 2012 May 18; 336(6083):886. PMID: 22605770; PMCID: PMC3518847.
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  81. 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. 2012; 7(3):e33755. PMID: 22479437; PMCID: PMC3315575.
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  82. 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, Thorburn DR, Mootha VK. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med. 2012 Jan 25; 4(118):118ra10. PMID: 22277967; PMCID: PMC3523805.
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  83. 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 Med Genet. 2012 Jan 06; 13:3. PMID: 22226368; PMCID: PMC3281774.
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  84. 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, Tiranti V. Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations. Mol Genet Metab. 2012 Mar; 105(3):463-71. PMID: 22221393; PMCID: PMC3487396.
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  85. 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, Thorburn DR, Mootha VK. Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. Cell Metab. 2011 Sep 07; 14(3):428-34. PMID: 21907147; PMCID: PMC3486727.
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  86. 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 Chem Biol. 2011 Sep 16; 6(9):900-4. PMID: 21732624; PMCID: PMC3176973.
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  87. 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. 2011 Jun 19; 476(7360):341-5. PMID: 21685886; PMCID: PMC3486726.
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  88. 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, Melander O, Clish CB, Gerszten RE. Metabolite profiles and the risk of developing diabetes. Nat Med. 2011 Apr; 17(4):448-53. PMID: 21423183; PMCID: PMC3126616.
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  89. Mootha VK, Agarwal R, Singh N, Aggarwal AN, Gupta D, Jindal SK. Medical thoracoscopy for undiagnosed pleural effusions: experience from a tertiary care hospital in north India. Indian J Chest Dis Allied Sci. 2011 Jan-Mar; 53(1):21-4. PMID: 21446220.
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  90. 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. Hum Mol Genet. 2011 Jan 15; 20(2):294-300. PMID: 20977989; PMCID: PMC3005902.
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  91. 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. Hum Mol Genet. 2010 Dec 15; 19(24):4837-47. PMID: 20858599; PMCID: PMC4560042.
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  92. 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, Daly MJ, Thorburn DR, Mootha VK. High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nat Genet. 2010 Oct; 42(10):851-8. PMID: 20818383; PMCID: PMC2977978.
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  93. 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 Genet. 2010 Aug 12; 6(8). PMID: 20714348; PMCID: PMC2920848.
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  94. 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. 2010 Sep 16; 467(7313):291-6. PMID: 20693986; PMCID: PMC2977980.
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  95. Gohil VM, Nilsson R, Belcher-Timme CA, Luo B, Root DE, Mootha VK. Mitochondrial and nuclear genomic responses to loss of LRPPRC expression. J Biol Chem. 2010 Apr 30; 285(18):13742-7. PMID: 20220140; PMCID: PMC2859537.
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  96. 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. Am Heart J. 2010 Mar; 159(3):428-33. PMID: 20211305.
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  97. 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 Dev. 2010 Mar 15; 24(6):537-42. PMID: 20194433; PMCID: PMC2841331.
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  98. 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. Nat Biotechnol. 2010 Mar; 28(3):249-55. PMID: 20160716; PMCID: PMC3135002.
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  99. Mootha VK, Hirschhorn JN. Inborn variation in metabolism. Nat Genet. 2010 Feb; 42(2):97-8. PMID: 20104246.
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  100. 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. Proc Natl Acad Sci U S A. 2010 Jan 26; 107(4):1571-5. PMID: 20080599; PMCID: PMC2824369.
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  101. Calvo SE, Mootha VK. The mitochondrial proteome and human disease. Annu Rev Genomics Hum Genet. 2010; 11:25-44. PMID: 20690818; PMCID: PMC4397899.
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  102. Gupta D, Mootha VK. Neuraminidase inhibitors for influenza in healthy adults: what we don't know. Natl Med J India. 2010 Jan-Feb; 23(1):29-31. PMID: 20839590.
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  103. 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 Genet. 2009 Aug; 5(8):e1000590. PMID: 19680543; PMCID: PMC2721412.
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  104. 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 Metab. 2009 Aug; 10(2):119-30. PMID: 19656490; PMCID: PMC2745341.
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  105. Calvo SE, Pagliarini DJ, Mootha VK. Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans. Proc Natl Acad Sci U S A. 2009 May 05; 106(18):7507-12. PMID: 19372376.
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  106. 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, Tasan M, Roth FP, Min J, Baumgartner C, Keshishian H, Addona T, Mootha VK, Rosenzweig A, Carr SA, Fifer MA, Sabatine MS, Gerszten RE. Metabolite profiling of blood from individuals undergoing planned myocardial infarction reveals early markers of myocardial injury. J Clin Invest. 2008 Oct; 118(10):3503-12. PMID: 18769631; PMCID: PMC2525696.
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  107. 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, Thorburn DR. Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. Am J Hum Genet. 2008 Oct; 83(4):468-78. PMID: 18940309; PMCID: PMC2561934.
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  108. 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. Mol Syst Biol. 2008; 4:214. PMID: 18682704; PMCID: PMC2538910.
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  109. 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. A mitochondrial protein compendium elucidates complex I disease biology. Cell. 2008 Jul 11; 134(1):112-23. PMID: 18614015; PMCID: PMC2778844.
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  110. Mootha V. Vamsi Mootha: taking an inventory of mitochondria. Interview by Hema Bashyam. J Exp Med. 2008 Jun 09; 205(6):1248-9. PMID: 18541715; PMCID: PMC2413021.
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  111. Wagner BK, Kitami T, Gilbert TJ, Peck D, Ramanathan A, Schreiber SL, Golub TR, Mootha VK. Large-scale chemical dissection of mitochondrial function. Nat Biotechnol. 2008 Mar; 26(3):343-51. PMID: 18297058; PMCID: PMC2715872.
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  112. 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. 2007 Nov 29; 450(7170):736-40. PMID: 18046414.
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  113. 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. J Clin Invest. 2007 Nov; 117(11):3463-74. PMID: 17932564; PMCID: PMC2000810.
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  114. 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, Ridderstråle M, Altshuler D, Lee RT, Vaag A, Groop LC, Mootha VK. TXNIP regulates peripheral glucose metabolism in humans. PLoS Med. 2007 May; 4(5):e158. PMID: 17472435; PMCID: PMC1858708.
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  115. Baughman JM, Mootha VK. Buffering mitochondrial DNA variation. Nat Genet. 2006 Nov; 38(11):1232-3. PMID: 17072298.
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  116. 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. Am J Hum Genet. 2006 Jul; 79(1):54-61. PMID: 16773565; PMCID: PMC1474138.
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  117. Foster LJ, de Hoog CL, Zhang Y, Zhang Y, Xie X, Mootha VK, Mann M. A mammalian organelle map by protein correlation profiling. Cell. 2006 Apr 07; 125(1):187-99. PMID: 16615899.
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  118. 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, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet. 2006 May; 38(5):570-5. PMID: 16582910.
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  119. 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. Nat Genet. 2006 May; 38(5):576-82. PMID: 16582907.
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  120. 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. Proc Natl Acad Sci U S A. 2005 Oct 25; 102(43):15545-50. PMID: 16199517.
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  121. Pitteloud N, Mootha VK, Dwyer AA, Hardin M, Lee H, Eriksson KF, Tripathy D, Yialamas M, Groop L, Elahi D, Hayes FJ. Relationship between testosterone levels, insulin sensitivity, and mitochondrial function in men. Diabetes Care. 2005 Jul; 28(7):1636-42. PMID: 15983313.
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  122. 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. 2005 Mar 17; 434(7031):338-45. PMID: 15735639; PMCID: PMC2923337.
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  123. Quinzii CM, Kattah AG, Naini A, Akman HO, Mootha VK, DiMauro S, Hirano M. Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology. 2005 Feb 08; 64(3):539-41. PMID: 15699391.
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  124. Giallourakis C, Henson C, Reich M, Xie X, Mootha VK. Disease gene discovery through integrative genomics. Annu Rev Genomics Hum Genet. 2005; 6:381-406. PMID: 16124867.
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  125. 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, Fan MC, Rohas LM, Zavacki AM, Cinti S, Shulman GI, Lowell BB, Krainc D, Spiegelman BM. Defects in adaptive energy metabolism with CNS-linked hyperactivity in PGC-1alpha null mice. Cell. 2004 Oct 01; 119(1):121-35. PMID: 15454086.
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  126. Mancuso M, Filosto M, Mootha VK, Rocchi A, Pistolesi S, Murri L, DiMauro S, Siciliano G. A novel mitochondrial tRNAPhe mutation causes MERRF syndrome. Neurology. 2004 Jun 08; 62(11):2119-21. PMID: 15184630.
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  127. 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. Proc Natl Acad Sci U S A. 2004 Apr 27; 101(17):6570-5. PMID: 15100410; PMCID: PMC404086.
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  128. 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. 2003 Nov 26; 115(5):629-40. PMID: 14651853.
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  129. 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, Tamayo P, Spiegelman B, Lander ES, Hirschhorn JN, Altshuler D, Groop LC. PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet. 2003 Jul; 34(3):267-73. PMID: 12808457.
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  130. 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, Rioux JD, Lander ES. Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc Natl Acad Sci U S A. 2003 Jan 21; 100(2):605-10. PMID: 12529507; PMCID: PMC141043.
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  131. Ray HN, Mootha VK, Boxwala AA. Building an application framework for integrative genomics. AMIA Annu Symp Proc. 2003; 981. PMID: 14728485; PMCID: PMC1479937.
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  132. Puigserver P, Rhee J, Lin J, Wu Z, Yoon JC, Zhang CY, Krauss S, Mootha VK, Lowell BB, Spiegelman BM. Cytokine stimulation of energy expenditure through p38 MAP kinase activation of PPARgamma coactivator-1. Mol Cell. 2001 Nov; 8(5):971-82. PMID: 11741533.
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  133. 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. EMBO J. 2001 Feb 15; 20(4):661-71. PMID: 11179211; PMCID: PMC145422.
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  134. Wei MC, Lindsten T, Mootha VK, Weiler S, Gross A, Ashiya M, Thompson CB, Korsmeyer SJ. tBID, a membrane-targeted death ligand, oligomerizes BAK to release cytochrome c. Genes Dev. 2000 Aug 15; 14(16):2060-71. PMID: 10950869; PMCID: PMC316859.
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  135. Mootha VK, Feldman J, Mannting F, Winters GL, Johnson W. Pheochromocytoma-induced cardiomyopathy. Circulation. 2000 Jul 04; 102(1):E11-3. PMID: 10880429.
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  136. 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. J Biol Chem. 2000 May 26; 275(21):16258-66. PMID: 10748196.
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  137. Territo PR, Mootha VK, French SA, Balaban RS. Ca(2+) activation of heart mitochondrial oxidative phosphorylation: role of the F(0)/F(1)-ATPase. Am J Physiol Cell Physiol. 2000 Feb; 278(2):C423-35. PMID: 10666039.
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  138. 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. 1999 Jul 09; 98(1):115-24. PMID: 10412986.
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  139. Zhang CY, Hagen T, Mootha VK, Slieker LJ, Lowell BB. Assessment of uncoupling activity of uncoupling protein 3 using a yeast heterologous expression system. FEBS Lett. 1999 Apr 23; 449(2-3):129-34. PMID: 10338118.
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  140. Mootha VK, Arai AE, Balaban RS. Maximum oxidative phosphorylation capacity of the mammalian heart. Am J Physiol. 1997 Feb; 272(2 Pt 2):H769-75. PMID: 9124437.
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  141. Balaban RS, Mootha VK, Arai A. Spectroscopic determination of cytochrome c oxidase content in tissues containing myoglobin or hemoglobin. Anal Biochem. 1996 Jun 01; 237(2):274-8. PMID: 8660576.
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  142. Mootha VK, French S, Balaban RS. Neutral carrier-based "Ca(2+)-selective" microelectrodes for the measurement of tetraphenylphosphonium. Anal Biochem. 1996 May 01; 236(2):327-30. PMID: 8660512.
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Funded by the NIH/NCATS Clinical and Translational Science Award (CTSA) program, grant number UL1TR001102, and through institutional support from Harvard University, Harvard Medical School, Harvard T.H. Chan School of Public Health, Beth Israel Deaconess Medical Center, Boston Children's Hospital, Brigham and Women's Hospital, Massachusetts General Hospital and the Dana Farber Cancer Institute.