CMTR-1 RNA methyltransferase mutations activate widespread expression of a dopaminergic neuron-specific mitochondria complex I gene
Meisel JD, Weisenthal PP, Mootha VK, Ruvkun G
Current Biology
Single-cell analysis reveals context-dependent, cell-level selection of mtDNA
Kotrys AV, Durham TJ, Guo XA, Vantaku VR, Parangi S, Mootha VK
Nature: 629(8011): 458-466
Mechanism of Action and Translational Potential of (S)-Meclizine in Preemptive Prophylaxis Against Stroke
Lee JH, Gohil VM, Heidari P, Seidel JL, Zulkifli M, Wei Y, Ji Y, Daneshmand A, Mahmood U, Clish CB, Mootha VK, Ayata C
Stroke: 55(5): 1370-1380
T cell activation contributes to purifying selection against the MELAS-associated m.3243A>G pathogenic variant in blood
Walker MA, Li S, Livak KJ, Karaa A, Wu CJ, Mootha VK.
Journal of Inherited Metabolic Disease
Circulating N-lactoyl-amino acids and N-formyl-methionine reflect mitochondrial dysfunction and predict mortality in septic shock
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.
Metabolomics: 20(2): 36
PMF-seq: a highly scalable screening strategy for linking genetics to mitochondrial bioenergetics
To TL, McCoy JG, Ostriker NK, Sandler LS, Mannella CA, Mootha VK.
Nature Metabolism: 6(4): 687-696
Hypoxia and intra-complex genetic suppressors rescue complex I mutants by a shared mechanism
Meisel JD, Miranda M, Skinner S, Wiesenthal PP, Wellner SM, Jourdain AA, Ruvkun G, Mootha VK.
Cell: 187(3): 659-675
METTL17 is an Fe-S cluster checkpoint for mitochondrial transition
Ast T, Itoh Y, Sadre S, McCoy JG, Namkoong G, Wengrod JC, Chicherin I, Joshi PR, Kamenski P, Suess DLM, Amunts A, Mootha VK.
Molecular Cell: 84(2): 359-374
ChREBP is activated by reductive stress and mediates GCKR-associated metabolic traits
Singh C, Jim B, Shrestha N, Markhard A, Panda A, Calvo SE, Deik A, Pan X, Zuckerman AL, Ben Saad A, Corey KE, Sjoquist J, Osganian S, AminiTabrizi R, Rhee EP, Shah H, Goldberger O, Mullen AC, Cracan V, Clish CB, Mootha VK, Goodman RP.
Cell Metabolism: 36(1):144-158
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans
Gupta R, Kanai M, Durham TJ, Tsuo K, McCoy JG, Kotrys AV, Zhou W, Chinnery PF, Karczewski KJ, Calvo SE, Neale BM, Mootha VK.
Nature: 620:839-848
Lipoylation in dependent on the ferredoxin FDX1 and dispensable under hypoxia in human cells
Joshi PR, Sadre S, Guo XA, McCoy JG, Mootha VK.
Journal of Biological Chemistry: 299(9): 105075
Effectors enabling adaptation to mitochondrial complex I loss in Hurthle cell carcinoma
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, Wirth LJ, Daniels GH, Sadreyev RI, Calvo SE, Parangi S, Mootha VK.
Cancer Discovery: 13(8):1904-1921
Continuous, but not intermittent, regimens of hypoxia prevent and reverse ataxia in a murine model of Friedreich's ataxia
Ast T, Wang H, Marutani E, Nagashima F, Malhotra R, Ichinose F, Mootha VK.
Human Molecular Genetics: 32(16):2600-2610
Hypoxia extends lifespan and neurological function in a mouse model of aging
Rogers RS, Wang H, Durham TJ, Stefely JA, Owiti NA, Markhard AL, Sandler L, To TL, Mootha VK.
PLOS Biology: 21(5):e3002117
Salvage of ribose from uridine or RNA supports glycolysis in nutrient-limited conditions
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.
Nature Metabolism: 5(5):765-776
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease
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 O, Christodoulou J, Thorburn DR, Stroud DA, Compton AG.
Human Molecular Genetics: 32(15):2441-2454
Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation
Ganetzky RD, Markhard AL, Yee I, Clever S, Cahill A , Shah H, Grabarek Z, To TL, Mootha VK.
New England Journal of Medicine: 387:1395-1403
A genetically encoded system for oxygen generation in living cells
Markhard AL, McCoy JG, To TL, Mootha VK.
Proceedings of the National Academy of Sciences U.S.A.: 119(43):e2207955119
Discovery and molecular basis of subtype-selective cyclophilin inhibitors
Peterson AA, Rangwala AM, Thakur MK, Ward PS, Hung C, Outhwaite IR, Chan AI, Usanov DL, Mootha VK, Seeliger MA, Liu D.
Nature Chemical Biology: 18:1184-1195
A natural fusion of flavodiiron, rubredoxin, and rubredoxin oxidoreductase domains is a self-sufficient water-forming oxidase of Trichomonas vaginalis
Abdulaziz EN, Bell TA, Rashid B, Heacock ML, Begic T, Skinner OS, Yaseen M, Mootha VK, Pierik AJ, Cracan V.
Journal of Biological Chemistry: 298(8):102210
Combinatorial GxGxE CRISPR screen identifies SLC25A39 in mitochondrial glutathione transport linking iron homeostasis to OXPHOS
Shi X, Reinstadler B, Shah H, To TL, Byrne K, Summer L, Calvo SE, Goldberger O, Doench JG, Mootha VK, Shen H.
Nature Communications: 13(1):2483
CRISPR-free base editors with enhanced activity and expanded targeting scope in mitochondrial and nuclear DNA
Mok BY, Kotrys AV, Raguram A, Huang TP, Mootha VK, Liu DR
Nature Biotechnology: 40(9):1378-1387
Mitochondrial DNA variation across 56,434 individuals in gnomAD
Laricchia KM, Lake NJ, Watts NA, Shand M, Haessly A, Gauthier L, Benjamin D, Banks E, Soto J, Garimella K, Emery J, Genome Aggregation Database Consortium, Rehm HL, MacArthur DG, Tiao G, Lek MV, Mootha VK., Calvo SE
Genome Research: 32(3):569-582
On the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models
Walker MA, Miranda M, Allred, A, Mootha VK.
Current Opinion in Neurobiology: 72:80-90
Human genetic analyses of organelles highlight the nucleus in age-related trait heritability
Gupta R, Karzewski KJ, Howrigan D, Neale BM, Mootha VK.
eLife: 10:e68610
Loss of LUC7L2 and U1 snRNP subunits shifts energy metabolism from glycolysis to OXPHOS
Jourdain AA, Begg BE, Mick E, Shah H, Calvo SE, Skinner OS, Sharma R, Blue SM, Yeo GW, Burge CB, Mootha VK.
Molecular Cell: 89(9):1905-1919
Editorial: Mitochondrial medicine special issue
Chinnery PF, Falk MJ, Mootha VK, Rahman S.
Journal of Inherited Metabolic Disease: 44(2):2890291
SARS-CoV-2 hijacks folate and one-carbon metabolism for viral replication
Zhang Y, Guo R, Kim SH, Shah H, Zhang S, Liang JH, Fang Y, Gentili M, O’Leary CN, Elledge SJ, Hung DT, Mootha VK, Gewurz BE.
Nature Communications: 12(1):1676
Hypoxia ameliorates brain hyperoxia and NAD+ deficiency in a murine model of Leigh syndrome
Grange RMH, Sharma R, Shah H, Reinstadler B, Goldberger O, Cooper MK, Nakagawa A, Miyazaki Y, Hindle AG, Batten AJ, Wojkiewicz GR, Schleifer G, Bagchi A, Marutani E, Malhotra R, Bloch DB, Ichinose F, Mootha VK, Zapol WM.
Molecular Genetics and Metabolism: 133(1):83-93
Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity
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 D, Khatri A, Hirano M, De Vivo DC, Mootha VK.
The Journal of Clinical Investigation: 131(2):e136055
Fatal perinatal mitochondrial cardiac failture caused by recurrent de novo duplications in the ATAD3 locus
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, Nitta KR, Ohtake A, Murayama K, Amor DJ, McGillivray G, Wong FY, van der Knaap MS, Vermeulen RJ, Wiltshire EJ, Fletcher JM, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Bhattacharya K, Freckmann ML, Arbuckle S, Rodriguez M, Taft RJ, Sadedin S,  Crowley MJ, Minoche AE, Calvo SE, Mootha VK, Ryan MT, Okazaki Y, Stroud DA, Simons C, Christodoulou J, Thorburn DR.
Med by Cell Press: 2(1):49-73
MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations
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, McCoy JG, Meisel JD, Miranda M, Panda A, Patgiri A, Rogers R, Sadre S, Shah H, Skinner OS, To TL, Walker MA, Wang H, Ward PS, Wengrod J, Yuan CC, Calvo SE, Mootha VK.
Nucleic Acids Research: 49(D1):D1541-1547
Airway stem cells sense hypoxia and differentiate into protective solitary neuroendocrine cells
Shivaraju M, Chitta UK, Grange RMH, Jain IH, Capen D, Liao L, Xu J, Ichinose F, Zapol WM, Mootha VK, Rajagopal J.
Science: 371(6524):52-57
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency
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 RDS, Hanna MG, Joost K, Cotta A, Filardi Paim J, Machado Navarro M, Duff J, Mattman A, Chapman K, Servidei S, Della Marina A, Uusimaa J, Roos A, Mootha V, Hirano M, Tulinius M, Giri M, Hoffmann EP, Lochmuller H, DiMauro S, Minczuk M, Chinnery PF, Muller JS, Horvath R.
The EMBO Journal: 39:e105364
Purifying selection against pathogenic mitochondrial DNA in human T cells
Walker MA, Lareau CA, Ludwig LS, Karaa A, Sankaran VG, Regev A, Mootha VK.
New England Journal of Medicine: 383:1556-1563
Evolutionary divergence reveals the molecular basis of EMRE dependence of the human MCU
MacEwen MJS, Markhard AL, Bozbeyoglu M, Bradford F, Goldberger O, Mootha VK, Sancak Y.
Life Science Alliance: 3(10):e20200718
Structural insights into the Ca2+-dependent gating of the human mitochondrial calcium uniporter
Wang Y, Han Y, She J, Nguyen NX, Mootha VK, Bai X, Jiang Y.
eLife: 9:e60513
An essential role for cardiolipin in the stability and function of the mitochondrial calcium uniporter
Ghosh S, Ball WB, Madaris TR, Srikantan S, Madesh M, Mootha VK, Gohil VM.
Proceedings of the National Academy of Sciences U.S.A.: 117(28): 16383-16390
A bacterial cytidine deaminase toxin enables CRISPR-free mitochondrial base editing
Mok BY, de Moraes MH, Zeng J, Bosch DE, Kotrys AV, Raguram A, Hsu FS, Radey MC, Peterson SB, Mootha VK, Mougous JD, Liu DR.
Nature: 583: 631-637
Distinct mitochondrial defects trigger the integrated stress response depending on the metabolic state of the cell
Mick E, Titov DV, Skinner OS, Sharma R, Jourdain AA, Mootha VK.
eLife: 9:e49178
Hepatic NADH reductive stress underlies common variation in metabolic traits
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, Kim JK, Mootha VK.
Nature: 583:122-126
Genetic screen for cell fitness in high or low oxygen highlights mitochondrial and lipid metabolism
Jain IH, Calvo SE, Markhard AL, Skinner OS, To TL, Ast T, Mootha VK.
Cell: 181(3):716-727
An engineered enzyme that targets circulating lactate to alleviate intracellular NADH:NAD+ imbalance
Patgiri A, Skinner OS, Miyazaki Y, Schleifer G, Marutani E, Shah H, Sharma R, Goodman RP, To TL, Bao XR, Ichinose F, Zapol WM, Mootha VK.
Nature Biotechnology: 38: 309-313
A compendium of genetic modifiers of mitochondrial dysfunction reveals intra-organelle buffering
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, Schreiber SL, Vafai SB, Mootha VK.
Cell: 179(5):1222-1238
Itaconyl-CoA forms a stable biradical in methylmalonyl-CoA mutase and derails its activity and repair
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.
Science: 366(6465):589-593
Mitochondrial reprogramming underlies resistance to BCL-2 inhibition in lymphoid malignancies
Guièze R, Liu VM, Rosebrock D, Jourdain AA, Hernández-Sánchez M, Zurtia AM, Sun J, Hacken ET, Baranowski K, Thompson PA, Heo JM, Cartun Z, Aygün O, Iorgulescu JB, Zhang W, Notarangelo G, Livitz D, Li S, Davids MS, Biran A, Fernandes SM, Brown JR, Lako A, Ciantra ZB, Lawlor MA, Keshkin DB, Udeshi ND, Wierda WG, Livak KJ, Letai AG, Neuberg D, Harper JW, Carr SA, Piccioni F, Ott CH, Leshchiner I, Johannessen CM, Doench J, Mootha VK, Getz G, Wu CJ.
Cancer Cell: 36(4):369-384
Leigh Syndrome mouse model can be rescued by interventions that normalize brain hyperoxia, but not HIF activation
Jain IH, Zazzeron L, Goldberger O, Marutani E, Wojkiewicz GR, Ast T, Wang H, Schleifer G, Stepanova A, Brepoels K, Schoonjans L, Carmeliet P, Galkin A, Ichinose F, Zapol WM, Mootha VK.
Cell Metabolism: 30(4):824-832
Oxygen and mammalian cell culture: are we repeating the experiment of Dr. Ox?
Ast T, Mootha VK.
Nature Metabolism: 1:858-860
Epstein-Barr-virus-induced one-carbon metabolism drives B cell transformation
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, Weekes MP, Gewurz BE.
Cell Metabolism: 30(3):539-555
Hypoxia rescues Frataxin loss by restoring iron sulfur cluster biogenesis
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.
Cell: 177(6):1507-1521
Exploring the in vivo role of the mitochondrial calcium uniporter in brown fat bioenergetics
Flicker D, Sancak Y, Mick E, Goldberger O, Mootha VK.
Cell Reports: 27(5):1364-1375
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant
Lake NJ, Formosa LE, Stroud DA, Ryan MT, Calvo SE, Mootha VK, Morar B, Procopis PG, Christodoulou J, Compton AG, Thorburn DR.
Human Mutation: 40(7):893-898
Crystal structure of MICU2 and comparison with MICU1 reveal insights into the uniporter gating mechanism
Kamer KJ, Jiang W, Kaushik VK, Mootha VK, Grabarek Z.
Proceedings of the National Academy of Sciences U.S.A.: 116(9):3546-3555
Impaired hypoxic pulmonary vasoconstriction in a mouse model of Leigh syndrome
Schleifer G, Marutani E, Ferrari M, Sharma R, Skinner O, Golderger O, Grange RMH, Peneyra K, Malhotra R, Wepler M, Ichinose F, Block DB, Mootha VK, Zapol WM.
American Journal of Physiology -- Lung Cellular and Molecular Physiology: 316(2):L391-L399
Evolutionary mitochondrial biology in Titisee
Gray MW, Mootha VK.
IUBMB Journals
Widespread chromosomal losses and mitochondrial DNA alterations as genetic drivers in Hurthle Cell Carcinoma
Gopal RK, Kubler 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, Lafrate AJ, Wirth L, Parangi S, Leshchiner I, Daniels GH, Mootha VK, Dias-Santagata D, Getz G, McFadden DG.
Cancer Cell: 34(2):242-255
MICU1 imparts the mitochondrial uniporter with the ability to discriminate between Ca2+ and Mn2+
Kamer KJ, Sancak Y, Fomina Y, Meisel JD, Chaudhuri D, Grabarek Z, Mootha VK.
Proceedings of the National Academy of Sciences U.S.A.: 115(34):E7960-E7969
Cryo-EM structure of a fungal mitochondrial calcium uniporter
Nguyen NX, Armache J, Lee C, Yang Y, Zeng W, Mootha VK, Cheng Y, Bai X, Jiang Y.
Nature: 559(7715):570-574
Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma
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.
Proceedings of the National Academy of Sciences U.S.A: 115(27):E6283-6290
Oxygen in mitochondrial disease: can there be too much of a good thing?
Mootha VK, Chinnery PF.
Journal of Inherited Metabolic Disease: 41(5):761-763
A middle eastern founder mutation expands the genotypic and phenotypic spectrum of mitochondrial MICU1 deficiency: a report of 13 patients
Musa S, Eyaid W, Kamer K, Ali R, Al-Mureikhi M, Shahbeck N, Al Mesaifri F, Makhseed N, Mohamed Z, Ali Alshehhi W, Mootha VK, Huusola J, Ben-Omran T.
JIMD Reports: 43:79-83
Spatiotemporal compartmentalization of hepatic NADH and NADPH metabolism
Goodman RP, Calvo SE, Mootha VK.
Journal of Biological Chemistry: 293(20):7508-7516
The human knockout gene CLYBL connects Itaconate to Vitamin B12
Shen H, Campanello GC, Flicker D, Grabarek Z, Hu J, Luo C, Banerjee R, Mootha VK.
Cell: 171(4):771-782
Antibodies to biotin enable large-scale detection of biotinylation sites on proteins
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.
Nature Methods: 14:1167-1170
Cardiovascular homeostasis dependence on MICU2, a regulatory subunit of the mitochondrial calcium uniporter
Bick AG, Wakimoto H, Kamer KJ, Sancak Y, Goldberger O, Axelsson A, DeLaughter DM, Gorham JM, Mootha VK, Seidman JG, Seidman CE.
Proceedings of the National Academy of Sciences U.S.A.: 114(43):E9096-E9104
Biallelic C1QBP mutations cause severe neonatal-, childhood-, or later-onset cardiomyopathy associated with combined respiratory-chain deficiencies
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, DiMaura 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.
American Journal of Human Genetics: 101(4):525-538
Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome
Siegmund S, Yang H, Sharma R, Javors M, Skinner O, Mootha V, Hirano M, Schon EA.
Human Molecular Genetics: 26(23):4588-4605
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
Garone C, D'Souza AR, Dallabona C, Lodi T, Rebelo-Guiomar P, Rorbach J, Donati MA, Procopio E, Montomoli M, Zeviani RGM, Calvo SE, Mootha VK, DiMauro S, Ferrero I, Minczuk M.
Human Molecular Genetics: 26(21):4257-4266
A genetically encoded tool for manipulation of NADP+/NADPH in living cells
Cracan V, Titov DV, Shen H, Grabarek Z, Mootha VK.
Nature Chemical Biology: 13(10):1088-1095
Biallelic mutations in MRPS34 lead to instability of the small mitoribosomal subunit and Leigh Syndrome
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, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rotig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR.
American Journal of Human Genetics: 101(2):239-254
CLIC, a tool for expanding biological pathways based on co-expression across thousands of datasets
Li Y, Jourdain AA, Calvo SE, Liu JS, Mootha VK.
PLOS Computational Biology: e1005653
Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy
Delaney NF, Sharma R, Tadvalkar L, Clish CB, Haller RG, Mootha VK.
Proceedings of the National Academy of Sciences U.S.A.: 114(31): 8402-8407
High-affinity cooperative Ca2+ binding by MICU1-MICU2 serves as an on-off switch for the uniporter
Kamer KJ, Grabarek Z, Mootha VK.
EMBO Reports: 18:1397-1411
Hypoxia treatment reverses neurodegenerative disease in a mouse model of Leigh syndrome
Ferrari M, Jain IH, Goldberger O, Rezoagli E, Thoonen R, Chen K, Sosnovik DE, Scherrer-Crosbie M, Mootha VK, Zapol WM.
Proceedings of the National Academy of Sciences U.S.A.: 114(21):E4241-E4250
Proteomic mapping of cytosol-facing outer mitochondrial and ER membranes in living human cells by proximity biotinylation
Hung V, Lam SS, Udeshi ND, Svinkina T, Guzman G, Mootha VK, Carr SA, Ting AY.
eLife: 6:e24463
Comparative analysis of mitochondrial N-termini from mouse, human, and yeast
Calvo SE, Julien O, Clauser KR, Shen H, Kamer KJ, Wells JA, Mootha VK.
Molecular & Cellular Proteomics: 10.1074
A genome-wide CRISPR death screen identifies genes essential for oxidative phosphorylation
Arroyo JD, Jourdain AA, Calvo SE, Ballarano CA, Doench JG, Root DE, Mootha VK.
Cell Metabolism: 24(6): 875-885
Natural product screening reveals naphthoquinone Complex I bypass factors
Vafai SB, Mevers E, Higgins KW, Fomina Y, Zhang J, Mandinova A, Newman D, Shaw SY, Clardy J, Mootha VK.
PLoS ONE: 11(9): e0162686
Natural underlying mtDNA heteroplasmy as a potential source of intra-person hiPSC variability
Perales-Clemente E, Cook AN, Evans JM, Roellinger S, Secreto F, Emmanuele V, Oglesbee D, Mootha VK, Hirano M, Schon EA, Terzix A, Nelson TJ.
The EMBO Journal: 35(18):1979-1990
Mitochondrial dysfunction remodels one-carbon metabolism in human cells
Bao XR, Ong S, 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.
eLife: 5:e10575
Architecture of the mitochondrial calcium uniporter
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.
Nature: 533(7602):269-273
Complementation of mitochondrial electron transport chain by manipulation of the NAD+/NADH ratio
Titov DV, Cracan V, Goodman RP, Peng J, Grabarek Z, Mootha VK.
Science: 352(6282):231-235
Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood
Lewis-Smith D, Kamer KJ, Griffin H, Childs A, Pysden K, Titov D, Duff J, Pyle A, Taylor RW, Yu-Wai-Man P, Ramesh V, Horvath R, Mootha VK, Chinnery PF.
Neurology Genetics: 2(2):e59
Hypoxia as a therapy for mitochondrial disease
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.
Science: 352(6281):54-61
A metabolic signature of mitochondrial dysfunction revealed through a monogenic form of Leigh syndrome
Thompson Legault J, Strittmatter L, Tardif J, Sharma R, Tremblay-Vaillancourt V, Aubut C, Boucher G, Clish CB, Cyr D, Daneault C, Waters PJ, The LSFC Consortium, Vachon L, Morin C, Laprise C, Rioux JD, Mootha VK, Des Rosiers C.
Cell Reports: 13(5):981-989
MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins
Calvo SE, Clauser KR, Mootha VK.
Nucleic Acids Research: 44(D1):D1251-1257
The molecular era of the mitochondrial calcium uniporter
Kamer KJ, Mootha VK.
Nature Reviews Molcular Cell Biology: 16(9):545-553
IGF2BP2/IMP2-Deficient mice resist obesity through enhanced translation of Ucp1 mRNA and other mRNAs encoding mitochondrial proteins
Dai N, Zhao L, Wrighting D, Kramer D, Majithia A, Wang Y, Cracan V, Borges-Rivera D, Mootha VK, Nahrendorf M, Thorburn DR, Minichiello L, Altshuler D, Avruch J.
Cell Metabolism: 21(4):609-621
Effects of sodium benzoate, a widely used food preservative, on glucose homeostasis and metabolic profiles in humans
Lennerz B, Vafai SB, Delaney NF, Clish CB, Deik AA, Pierce KA, Ludwig DS, Mootha VK.
Molecular Genetics and Metabolism: 114(1):73-79
Directed evolution of APEX2 for electron microscopy and proximity labeling
Lam SS, Martell JD, Kamer KJ, Deerinck TJ, Ellisman MH, Mootha VK, Ting AY.
Nature Methods: 12(1):51-54
Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA Formyltransferase
Sinha A, Kohrer C, Weber MH, Masuda I, Mootha VK, Hou YM, RajBhandary UL.
Journal of Biological Chemistry: 289(47):32729-32741
Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominany mitochondrial myopathy
Ajroud-Driss S, Fecto F, Arjoud K, Lalani I, Calvo SE, Mootha VK, Deng HX, Siddique N, Tahmoush AJ, Heiman-Patterson TD, Siddique T.
Neurogenetics: 16(1):1-9
Expansion of biological pathways based on evolutionary inference
Li Y, Calvo SE, Gutman R, Liu JS, Mootha VK.
Cell: 158(1):213-225
Proteomic mapping of the human mitochondrial intermembrane space in live cells via ratiometric APEX tagging
Hung V, Zou P, Rhee HW, Udeshi ND, Cracan V, Svinkina T, Carr SA, Mootha VK, Ting AY.
Molecular Cell: 55(2):332-341
Reconstitution of the mitochondrial calcium uniporter in yeast
Kovacs-Bogdan E, Sancak Y, Kamer KJ, Plovanich M, Jambhekar A, Huber RJ, Myre MA, Blower MD, Mootha VK.
Proceedings of the National Academy of Sciences U.S.A.: 111(24):8985-8990
Functional genomic analysis of human mitochondrial RNA processing
Wolf AR, Mootha VK.
Cell Reports: 7(3):918-931
The uniporter: From newly identified parts to function
Kamer KJ, Sancak Y, Mootha VK.
Biochemical and Biophysical Research Communications: 449(4):370-372
A systematic survey of lipids across mouse tissues
Jain M, Ngoy S, Sheth SA, Swanson RA, Rhee EP, Liao R, Clish CB, Mootha VK, Nilsson R.
American Journal of Physiology-Endocrinology and Metabolism: 306(8):E854-868
Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency
Lieber DS, Hershman SG, Slate NG, Calvo SE, Sims KB, Schmahmann JD, Mootha VK.
BMC Medical Genetics: 15:30
MICU1 and MICU2 play nonredundant roles in the regulation of the mitochondrial calcium uniporter
Kamer KJ, Mootha VK.
EMBO Reports: 15(3):299-307
Metabolic enzyme expression highlights a key role for MTHFD2 and the mitochondrial folate pathway in cancer
Nilsson R, Jain M, Madhusudhan N, Sheppard NG, Strittmatter L, Kampf C, Huang J, Asplund A, Mootha VK.
Nature Communications: 5:3128
CLYBL is a polymorphic human enzyme with malate synthase and β-methylmalate synthase activity
Strittmatter L, Li Y, Nakatsuka NJ, Calvo SE, Grabarek Z, Mootha VK.
Human Molecular Genetics: 23(9):2313-2323
A common pathway for a rare disease?
Vafai SB, Mootha VK.
Science: 342(6165):1453-1454
EMRE is an essential component of the mitochondrial calcium uniporter complex
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.
Science: 342(6164):1379-1382
Macrocytic anemia and mitochondriopathy resulting from a defect in Sideroflexin 4
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 Jr, Merkenschlager A, Beblo S, Strom TM, Meitinger T, Freisinger P, Donati MA, Prokisch H, Mootha VK, Dimauro S, Paw BH.
American Journal of Human Genetics: 93(5):906-914
Meclizine inhibits mitochondrial respiration through direct targeting of cytosolic phosphoethanolamine metabolism
Gohil VM, Zhu L, Baker CD, Cracan V, Yaseen A, Jain M, Clish CB, Brookes PS, Bakovic M, Mootha VK.
Journal of Biological Chemistry: 288(49): 35387-95
Distilling pathophysiology from complex disease genetics
Chakravarti A, Clark AG, Mootha VK.
Cell: 155(1):21-26
Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes
Lim SC, Friemel M, Marum JE, Tucker EJ, Bruno DL, Riley LG, Christodoulou J, Kirk EP, Boneh A, Degennaro C, Springer M, Mootha VK, Rouault TA, Leimkühler S, Thorburn DR, Compton AG.
Human Molecular Genetics:(22): 4460-4473
New treatments for mitochondrial disease-no time to drop our standards
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.
Nature Reviews Neurology: (8):474-481
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9
Garone C, Donati MA, Sacchini M, Garcia-Diaz B, Bruno C, Calvo S, Mootha VK, Dimauro S.
JAMA Neurology: 70(9):1177-1179
MCU encodes the pore conducting mitochondrial calcium currents
Chaudhuri D, Sancak Y, Mootha VK, Clapham DE.
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MICU1 controls both the threshold and cooperative activation of the mitochondrial Ca(2+) uniporter
Csordás G, Golenár T, Seifert EL, Kamer KJ, Sancak Y, Perocchi F, Moffat C, Weaver D, Perez Sde L, Bogorad R, Koteliansky V, Adijanto J, Mootha VK, Hajnóczky G.
Cell Metabolism
: 17(6):976-987
MICU2, a paralog of MICU1, resides within the mitochondrial uniporter complex to regulate calcium handling
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
PLoS One
: 8(2):e55785
Targeted exome sequencing of suspected mitochondrial disorders
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
Neurology: 80(19):1762-1770
Proteomic mapping of mitochondria in living cells via spatially restricted enzymatic tagging
Rhee HW, Zou P, Udeshi ND, Martell JD, Mootha VK, Carr SA, Ting AY
: 339(6125):1328-1331
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
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.
Nature Genetics
: 45(2):214-219
Complementary RNA and protein profiling identifies iron as a key regulator of mitochondrial biogenesis
Rensvold JW, Ong SE, Jeevananthan A, Carr SA, Mootha VK, Pagliarini DJ.
Cell Reports: 3(1):237-245
Mitochondrial disorders as windows into an ancient organelle
Vafai SB, Mootha VK.
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Engineered ascorbate peroxidase as a genetically encoded reporter for electron microscopy
Martell JD, Deerinck TJ, Sancak Y, Poulos TL, Mootha VK, Sosinsky GE, Ellisman MH, Ting AY.
Nature Biotechnology: 30(11):1143-1148
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions
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.
Brain: 135(11):3404-3415
TRPV4 is a regulator of adipose oxidative metabolism, inflammation, and energy homeostasis
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.
Cell: 151(1):96-110
MPV17 mutations causing adult-onset multisystemic disorder with multple mitochondrial DNA deletions
Garone C, Rubio JC, Calvo SE, Naini A, Tanji K, Dimauro S, Mootha VK, Hirano M.
Archives of Neurology: 69(12):1648-1651
Circulating branched-chain amino acid concentrations are associated with obesity and future insulin resistance in children and adolescents
McCormack SE, Shaham O, McCarthy MA, Deik AA, Wang TJ, Gerszten RE, Clish CB, Mootha VK, Grinspoon SK, Fleischman A.
Pediatric Obesity: 8(1):52-61
Metabolite profiling reveals a key role for glycine in rapid cancer cell proliferation
Jain M, Nilsson R, Sharma S, Madhusudhan N, Kitami T, Souza A, Kafri R, Kirschner MW, Clish CB, Mootha VK.
Science: 336(6084):1040-1044
Evolutionary diversity of the mitochondrial calcium uniporter
Bick AG, Calvo SE, Mootha VK.
Science: 336(6083):86
A chemical screen probing the relationship between mitochondral content and cell size
Kitami T, Logan DJ, Negri J, Hasaka T, Tolliday NJ, Carpenter AE, Spiegelman BM, Mootha VK.
PLoS ONE: 7(3):e33755
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
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.
Science Translational Medicine: 4(118):118ra10
Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease
Lieber DS, Vafai SB, Horton LC, Slate NG, Liu S, Borowsky ML, Calvo SE, Schmahmann JD, Mootha VK.
BMC Medical Genetics: 13(1):3
Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations
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.
Molecular Genetics and Metabolism: 105(3):463-471
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation
Tucker EJ, Hershman SG, Kohrer 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.
Cell Metabolism: 14(3):428-434
A small-molecule screening strategy to identify suppressors of statin myopathy
Wagner BK, Gilbert TJ, Hanai J, Imamura S, Bodycombe NE, Bon RS, Waldmann H, Clemons PA, Sukhatme VP, Mootha VK.
ACS Chemical Biology: 6(9):900-904
Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter
Baughman J, Perocchi F, Girgis H, Plovanich M, Belcher-Timme CA, Sancak Y, Bao XR, Strittmatter L, Goldberger O, Bogorad RL, Koteliansky V, Mootha VK.
Nature: 476(7360):341-345
Metabolite profiles and the risk of developing diabetes
Wang T, Larson MG, Ramachandran VS, Cheng S, Rhee EP, McCabe E, Lewis GD, Foz CS, Jacques PF, Fernandez C, O'Donnell CJ, Carr SA, Mootha VK, Florez JC, Souza A, Melander O, Clish CB, Gerszten RE.
Nature Medicine: 17(4):448-453
Meclizine is neuroprotective in models of Huntington's disease
Gohil VM, Offner N, Walker JA, Sheth SA, Fossale E, Gusella JF, MacDonald ME, Neri C, Mootha, VK.
Human Molecular Genetics: 20(2):294-300
FOXRED1, encoding a FAD-dependent oxidoreductase complex-I specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy
Fassone E, Duncan AJ, Taanman JW, Pagnamenta AT, Sadowski MI, Holand T, Qasim W, Rutland P, Calvo SE, Mootha VK, Bitner-Glindizicz M, Rahman S.
Human Molecular Genetics: 19(24):4837-4847
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
Calvo SE, Tucker EJ, Compton AG, Kirby DM, Crawford G, Burtt NP, Rivas M, Guiducci C, Bruno DL, Goldberger O, Redman MC, Wiltshire E, Wilson CJ, Altshuler D, Gabriel SB, Daly MJ, Thorburn DR, Mootha VK.
Nature Genetics: 42(10):851-858
Common inherited variation in mitochondrial genes is not enriched for associations with Type 2 Diabetes or related glycemic traits
Segre AV, DIAGRAM Consortium, MAGIC investigators, Leif Groop, Mootha VK, Daly MJ, Altshuler D.
PLoS Genetics: 6(8):e1001058
MICU1 encodes a mitochondrial EF hand protein required for Ca2+ uptake
Perocchi F, Gohil VK, Girgis H, Bao R., McCombs JE, Palmer AE, Mootha VK.
Nature: 467(7313):291-296
The mitochondrial proteome and human disease
Calvo SE, Mootha VK.
Annual Review of Genomics and Human Genetics: 11:25-44
Mitochondrial and nuclear genomic responses to loss of LRPPRC expression
Gohil VM, Nilsson R, Belcher-Timme CA, Luo B, Root DE, Mootha VK.
Journal of Biological Chemistry: 285(18):13742-13747.
The homeobox protein Prox1 is a negative modulator of ERRα/PGC-1α bioenergetic functions
Charest-Marcotte A, Dufour C, Wilson BJ, Tremblay AM, Eichner LJ, Arlow DH, Mootha VK, Giguere V.
Genes & Development: 10:537-542
Propranolol and the risk of hospitalized myopathy: Translating chemical genomics findings into population-level hypotheses
Setoguchi S, Higgins JM, Mogun H, Mootha VK, Avorn J.
American Heart Journal: 159:428-433
Nutrient-sensitized screening for drugs that shift energy metabolism from mitochondrial respiration to glycolysis
Gohil VM, Sheth SA, Nilsson R, Wojtovich AP, Lee JH, Perocchi F, Chen W, Clish CB, Ayata C, Brookes PS, Mootha VK.
Nature Biotechnology, 28(3):249-255
Inborn variation in metabolism
Mootha VK, Hirschhorn JN.
Nature Genetics: 42(2):97-98
A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells
Shaham O, Slate NG, Goldberger O, Xu Q, Ramanathan A, Souza AL, Clish CB, Sims KB, Mootha VK.
Proceedings of the National Academy of Sciences U.S.A: 107(4):1571-1575
Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis
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.
Cell Metabolism: 10:119-130
A computational screen for regulators of oxidative phosphorylation Implicates SLIRP in mitochondrial RNA homeostasis
Baughman JM, Nilsson R, Gohil VM, Arlow DH, Gauhar Z, Mootha VK.
PLoS Genetics: 5(8): e10000590
Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans
Calvo SE, Pagliarini DJ, Mootha VK.
Proceedings of the National Academy of Sciences U.S.A: 106(18):7507-7512
Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease
Sugiana C, Pagliarini DJ, McKenzie M, Kirby DM, Salemi R, Abu-Amero KK, Dahl HM, Hutchison WM, Vascotto KA, Smith SM, Newbold RF, Christodoulou J, Calvo S, Mootha VK, Ryan MT, Thorburn DR.
American Journal of Human Genetics: 83:468-478
Metabolic profiling of the human response to a glucose challenge reveals distinct axes of insulin sensitivity
Shaham O, Wei R, Wang TJ, Ricciardi C, Lewis GD, Vasan RS, Carr SA, Thadhani R, Gerszten RE, Mootha VK.
Molecular Systems Biology: 4:214
A mitochondrial protein compendium elucidates complex I disease biology
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.
Cell: 134:112-123
Large-scale chemical dissection of mitochondrial function
Wagner BK, Kitami T, Gilbert TJ, Peck D, Ramanathan A, Schreiber SL, Golub TR, Mootha VK.
Nature Biotechnology: 26:343-351
mTOR controls mitochondrial oxidative function through a YY1-PGC-1α transcriptional complex
Cunningham JT, Rodgers JT, Arlow DH, Vazquez F, Mootha VK, Puigserver, P.
Nature: Nov 29; 450: 736-740
Abnormal glucose homeostasis in skeletal muscle-specific PGC-1α knockout mice reveals skeletal muscle-pancreatic beta cell crosstalk
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.
Journal of Clinical Investigation: Nov; 117: 3463-3474
TXNIP regulates peripheral glucose metabolism in humans
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.
PLoS Medicine: 4:e158
Buffering mitochondrial DNA variation
Baughman JM, Mootha VK.
Nature Genetics: 38:1232-1233
Mitochondrial endocrinology
Yialamas M, Groop LC, Mootha VK.
Textbook of Mitochondrial Medicine (eds: S. DiMauro, E. Schon, M. Hirano).
Comprehensive association testing of common mitochondrial DNA variation in metabolic disease
Saxena R, Bakker PD, Singer K, Mootha VK, Burtt N, Hirschhorn JN, Gaudet D, Daly MJ, Groop LC, Ardlie KG, Altshuler D.
American Journal of Human Genetics: 79:54-61
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara C, 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.
Nature Genetics: 38:570-575
Systematic identification of human mitochondrial disease genes through integrative genomics
Calvo S, Jain M, XieX , Sheth SA, Goldberger O, Chang B, Spinazzola A, Zeviani M, Carr SA, Mootha VK.
Nature Genetics: 38:576-582
A mammalian organelle map by protein correlation profiling
Foster LJ, de Hoog CL, Zhang Y, Zhang Y, Xie X, Mootha VK, Mann M.
Cell: 125:187-199
Systematic discovery of regulatory motifs in human promoters and 3’ UTRs by comparison of several mammals
Xie X, Lu J, Kulbokas EJ, Golub TR, Mootha V, Lindblad-Toh K, Lander ES, Kellis M.
Nature: 434:338-345
Disease gene discovery through integrative genomics
Giallourakis C, Henson C, Reich M, Xie X, Mootha VK.
Annual Review of Genomics and Human Genetics: 6:381-406
Relationship between testosterone levels, insulin sensitivity, and mitochondrial function in men
Pitteloud N, Mootha VK, Dwyer AA, Hardin M, Lee H, Eriksson KF, Tripathy D, Yialamas M, Groop L, Elahi D, Hayes FJ.
Diabetes Care: 28:1636-1642
Estrogen-related receptor α (ERRα): A novel target in type 2 diabetes
Handschin C, Mootha VK.
Drug Discovery Today: Therapeutic Strategies: Vol 2; Summer 2005: 151-156
Gene set enrichment analysis: A knowledge-based approach for interpreting genomewide expression profiles
Subramanian AS, Tamayo P, Mootha VK, Mukherjee S, Ebert BL, Gillette MA, Paulovich A, Pomeroy SL, Golub TR, Lander ES, Mesirov JP.
Proceedings of the National Academy of Sciences U.S.A.: 102:15545-15550
Errα and Gabpa/b specify PGC-1α dependent oxidative phosphorylation gene expression that is altered in diabetic muscle
Mootha VK, Handschin C, Arlow D, Xie X, St-Pierre J, Sihag S, Yang W, Altshuler D, Puigserver P, ES Lander, Spiegelman BM.
Proceedings of the National Academy of Sciences U.S.A.: 101(17):6570-6575
A novel mitochondrial tRNAPhe mutation causes MERRF syndrome
Mancuso M, Filosto M, Mootha VK, Rocchi A, Pistolesi S, Murri L, DiMauro S, Siciliano G.
Neurology: 62(11):2119-2121
Defects in adaptive energy metabolism with CNS-linked hyperactivity in PGC-1α null mice
Lin J, Wu PH, Tarr PT, Lindenberg KS, St-Pierre J, Zhang CY, Mootha VK, Jager 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.
Cell: 119:121-135
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation
Quinzii CM, Kattah AG, Naini A, Akman HO, Mootha VK, SM DiMauro, Hirano M.
Neurology: 64(3):539-541
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics
Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Zhu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES.
Proceedings of the National Academy of Sciences U.S.A.: 100(2):  605-610
PGC-1α responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes
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 BM, Lander ES, Hirschhorn JN, Altshuler D, Groop LC.
Nature Genetics: 34(3):267-273
Integrated analysis of protein expression, tissue diversity, and gene regulation in mouse mitochondria
Mootha VK, Bunkenborg J, Olsen J, Hjerrild M, Wisniewski JR, Stahl E, Bolouri M, Ray H, Sihag S, Kamal M, Patterson N, Lander ES, Mann M.
Cell: 115(5):629-640
Cytokine stimulation of energy expenditure through p38 MAP kinase activation of PPARγ coactivator-1
Puigserver P, Rhee J, Lin J, Wu Z, Yoon JC, Zhang C, Krauss S, Mootha VK, Lowell BB, Spiegelman BM.
Molecular Cell: 8: 971-982
A reversible component of mitochondrial respiratory dysfunction in apoptosis can be rescued by exogenous cytochrome c
Mootha VK, Wei MC, Buttle K, Scorrano L, Panoutsakopoulou V, Korsmeyer SJ.
The EMBO Journal: 20(4):661-671
tBID, a membrane-targeted death ligand, oligomerizes BAK to release cytochrome c
Wei MC, Lindsten T, Mootha VK, Weiler S, Gross A, Ashiya M, Thompson CB, Korsmeyer SJ.
Genes & Development: 14:2060-2071
Pheochromocytoma induced cardiomyopathy
Mootha VK, Feldman J, Mannting F, Winters GL, Johnson W.
Circulation: 102(4): E11-E13
Energy metabolism in uncoupling protein 3 gene knockout mice
Vidal-Puig AJ, Grujic D, Zhang C, Hagen T, Boss O, Ido Y, Szczepanik A, Wade J, Mootha V, Cortright R, Muoio DM, Lowell BB.
Journal of Biological Chemistry: 274(21):16258-16266
Ca2+ activation of heart mitochondrial oxidative phosphorylation:  role of the F0/F1-ATPase
Territo PR, Mootha VK, French SA, Balaban RS.
American Journal of Physiology: 278: C423-C434
Mechanisms controlling mitochondrial biogenesis and respiration through the thermogenic activator PGC-1
Wu Z, Puigserver P, Andersson U, Zhang C, Adelmant G, Mootha V, Troy A, Cinti S, Lowell B, Scarpulla RC, Spiegelman BM.
Cell: 98(1):  115-124
Assessment of uncoupling activity of uncoupling protein 3 using a yeast heterologous expression system
Zhang CY, Hagen T, Mootha VK, Slieker LJ, Lowell BB.
FEBS Letters: 449: 129-134
Maximum oxidative phosphorylation capacity of the mammalian heart
Mootha VK, Arai A, Balaban RS.
American Journal of Physiology: 272: H769-H775
Spectroscopic determination of cytochrome oxidase content in tissues containing myoglobin or hemoglobin
Balaban RS, Mootha VK, Arai A.
Analytical Biochemistry: 237: 274-278
Neutral carrier based ‘Ca2+-selective’ microelectrodes for the measurement of tetraphenylphosphonium
Mootha VK, French S, Balaban RS.
Analytical Biochemistry: 236: 327-330
On the Set of Numbers {14,22,30,42,90}
Mootha VK.
Acta Arithmetica: 75: 259-264
Unary Fibonacci Numbers are Context-Sensitive
Mootha VK.
Fibonacci Quarterly: 31: 41-43
Characterization and and Extendibility of Pt-sets
Mootha VK, Berzsenyi G.
Fibonacci Quarterly: 27: 287-288