Harvard Catalyst Profiles
Contact, publication, and social network information about Harvard faculty and fellows.
Home
About
Overview
Open Source Software
Help
History (1)
Mootha, Vamsi
See All Pages
Find People
Find Everything
Login
to
edit your profile
(add a photo, education, awards, etc.), search
student opportunities
, and
create reports
.
Edit My Profile
My Person List (
0
)
Opportunity Search
Return to Top
Vamsi Krishna Mootha, M.D.
Title
Professor of Systems Biology
Institution
Massachusetts General Hospital
Department
Systems Biology
Address
Massachusetts General Hospital
Dept. of Molecular Biology
185 Cambridge St
Boston MA 02114
Phone
617/643-9710
Fax
617/726-5735
vCard
Download vCard
(
login for email
)
Other Positions
Title
Professor of Medicine
Institution
Massachusetts General Hospital
Department
Medicine
completed student projects
|
research activities and funding
|
selected publications
|
Mentoring
completed student projects
Understanding Molecular Events Elicited by Mitochondrial Complex I Loss and Hypoxia
Summer, 06/01/18 - 08/31/18
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.
Most Recent
|
List All
R01AR071942
(GRABAREK, ZENON)
Sep 1, 2018 - Jul 31, 2023
NIH
Structure, function, and disease biology of MICU1/MICU2
Role: Co-Principal Investigator
R35GM122455
(MOOTHA, VAMSI KRISHNA)
May 29, 2017 - Apr 30, 2022
NIH
Mitochondrial Parts, Pathways, and Pathogenesis
Role: Principal Investigator
R01HL130143
(CHOU, JAMES JEIWEN)
Feb 1, 2017 - Jan 31, 2021
NIH
Molecular Architecture Of The Mitochondrial Calcium Uniporter
Role: Co-Principal Investigator
R01GM099683
(MOOTHA, VAMSI KRISHNA)
Sep 30, 2011 - Aug 31, 2016
NIH
Molecular prostheses for mitochondrial disorders
Role: Principal Investigator
R01GM097136
(MOOTHA, VAMSI KRISHNA)
Jun 15, 2011 - Feb 29, 2016
NIH
Human Mitochondrial Disease: From Novel Gene Variants to Causality and Function
Role: Principal Investigator
RC2HG005556
(MOOTHA, VAMSI KRISHNA)
Sep 30, 2009 - Aug 31, 2012
NIH
Defining the genetic basis of human respiratory chain disease
Role: Principal Investigator
R01DK081457
(MOOTHA, VAMSI KRISHNA)
Aug 1, 2008 - Jul 31, 2013
NIH
Metabolic Profiling of OXPHOS Dysfunction
Role: Principal Investigator
R01GM077465
(MOOTHA, VAMSI KRISHNA)
Feb 1, 2007 - Feb 28, 2017
NIH
Characterization of the Mitochondrial Proteome
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.
Newest
|
Oldest
|
Most Cited
|
Most Discussed
|
Timeline
|
Field Summary
|
Plain Text
PMC Citations
indicate the number of times the publication was cited by articles in PubMed Central, and the
Altmetric
score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.)
Fields
are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication.
Translation
tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
Ganetzky RD, Markhard AL, Yee I, Clever S, Cahill A, Shah H, Grabarek Z, To TL,
Mootha VK
. Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation. N Engl J Med. 2022 10 13; 387(15):1395-1403.
PMID:
36239646
; PMCID:
PMC9754853
.
Citations:
1
Fields:
Med
Medicine (General)
Translation:
Humans
Cells
Markhard AL, McCoy JG, To TL,
Mootha VK
. A genetically encoded system for oxygen generation in living cells. Proc Natl Acad Sci U S A. 2022 10 25; 119(43):e2207955119.
PMID:
36215519
; PMCID:
PMC9618058
.
Citations:
Fields:
Sci
Science
Translation:
Humans
Peterson AA, Rangwala AM, Thakur MK,
Ward PS
, Hung C, Outhwaite IR, Chan AI, Usanov DL,
Mootha VK
, Seeliger MA, Liu DR. Discovery and molecular basis of subtype-selective cyclophilin inhibitors. Nat Chem Biol. 2022 Nov; 18(11):1184-1195.
PMID:
36163383
; PMCID:
PMC9596378
.
Citations:
Fields:
Bio
Biology
Che
Chemistry
Abdulaziz EN,
Bell TA
, Rashid B, Heacock ML, Begic T,
Skinner OS
, Yaseen MA,
Chao LH
,
Mootha VK
, Pierik AJ, Cracan V. A natural fusion of flavodiiron, rubredoxin, and rubredoxin oxidoreductase domains is a self-sufficient water-forming oxidase of Trichomonas vaginalis. J Biol Chem. 2022 08; 298(8):102210.
PMID:
35780837
; PMCID:
PMC9364112
.
Citations:
Fields:
Bio
Biochemistry
Shi X, Reinstadler B, Shah H, To TL, Byrne K, Summer L,
Calvo SE
, Goldberger O, Doench JG,
Mootha VK
, Shen H. Combinatorial GxGxE CRISPR screen identifies SLC25A39 in mitochondrial glutathione transport linking iron homeostasis to OXPHOS. Nat Commun. 2022 05 05; 13(1):2483.
PMID:
35513392
; PMCID:
PMC9072411
.
Citations:
Fields:
Bio
Biology
Sci
Science
Translation:
Cells
Mok BY,
Kotrys AV
, Raguram A, Huang TP,
Mootha VK
, Liu DR. CRISPR-free base editors with enhanced activity and expanded targeting scope in mitochondrial and nuclear DNA. Nat Biotechnol. 2022 09; 40(9):1378-1387.
PMID:
35379961
; PMCID:
PMC9463067
.
Citations:
4
Fields:
Bio
Biotechnology
Laricchia KM, Lake NJ, Watts NA, Shand M, Haessly A, Gauthier L, Benjamin D, Banks E, Soto J, Garimella K, Emery J,
Rehm HL
, MacArthur DG, Tiao G, Lek M,
Mootha VK
,
Calvo SE
. Mitochondrial DNA variation across 56,434 individuals in gnomAD. Genome Res. 2022 03; 32(3):569-582.
PMID:
35074858
; PMCID:
PMC8896463
.
Citations:
4
Fields:
Gen
Genetics
Translation:
Humans
Cells
Wang Z, Guo R, Trudeau SJ, Wolinsky E, Ast T, Liang JH, Jiang C, Ma Y, Teng M,
Mootha VK
,
Gewurz BE
. CYB561A3 is the key lysosomal iron reductase required for Burkitt B-cell growth and survival. Blood. 2021 12 02; 138(22):2216-2230.
PMID:
34232987
; PMCID:
PMC8641094
.
Citations:
3
Fields:
Hem
Hematology
Translation:
Humans
Cells
Walker MA
, Miranda M, Allred A,
Mootha VK
. On the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models. Curr Opin Neurobiol. 2022 02; 72:80-90.
PMID:
34656053
; PMCID:
PMC8901530
.
Citations:
1
Fields:
Bio
Biology
Neu
Neurology
Translation:
Humans
Animals
Gupta R,
Karczewski KJ
,
Howrigan D
,
Neale BM
,
Mootha VK
. Human genetic analyses of organelles highlight the nucleus in age-related trait heritability. Elife. 2021 09 01; 10.
PMID:
34467851
.
Citations:
1
Fields:
Bio
Biology
Translation:
Humans
Cells
Vishnu N, Hamilton A, Bagge A, Wernersson A, Cowan E, Barnard H, Sancak Y, Kamer KJ, Spégel P, Fex M, Tengholm A,
Mootha VK
, Nicholls DG, Mulder H. Mitochondrial clearance of calcium facilitated by MICU2 controls insulin secretion. Mol Metab. 2021 09; 51:101239.
PMID:
33932586
; PMCID:
PMC8163986
.
Citations:
3
Fields:
Met
Metabolism
Translation:
Humans
Animals
Cells
Jourdain AA, Begg BE, Mick E, Shah H,
Calvo SE
,
Skinner OS
, Sharma R, Blue SM, Yeo GW, Burge CB,
Mootha VK
. Loss of LUC7L2 and U1 snRNP subunits shifts energy metabolism from glycolysis to OXPHOS. Mol Cell. 2021 05 06; 81(9):1905-1919.e12.
PMID:
33852893
; PMCID:
PMC8314041
.
Citations:
7
Fields:
Cel
Cell Biology
Mol
Molecular Biology
Translation:
Humans
Cells
Zhang Y, Guo R, Kim SH, Shah H,
Zhang S
, Liang JH, Fang Y, Gentili M, Leary CNO, Elledge SJ,
Hung DT
,
Mootha VK
,
Gewurz BE
. SARS-CoV-2 hijacks folate and one-carbon metabolism for viral replication. Nat Commun. 2021 03 15; 12(1):1676.
PMID:
33723254
.
Citations:
27
Fields:
Bio
Biology
Sci
Science
Translation:
Humans
Animals
Cells
Grange RMH, Sharma R, Shah H, Reinstadler B, Goldberger O, Cooper MK,
Nakagawa A
, Miyazaki Y, Hindle AG, Batten AJ, Wojtkiewicz GR, Schleifer G,
Bagchi A
,
Marutani E
,
Malhotra R
,
Bloch DB
,
Ichinose F
,
Mootha VK
, Zapol WM. Hypoxia ameliorates brain hyperoxia and NAD+ deficiency in a murine model of Leigh syndrome. Mol Genet Metab. 2021 05; 133(1):83-93.
PMID:
33752971
; PMCID:
PMC8489256
.
Citations:
6
Fields:
Bio
Biochemistry
Met
Metabolism
Mol
Molecular Biology
Translation:
Humans
Animals
Cells
Chinnery PF, Falk MJ,
Mootha VK
, Rahman S. Editorial: Mitochondrial medicine special issue. J Inherit Metab Dis. 2021 03; 44(2):289-291.
PMID:
33764554
.
Citations:
Fields:
Met
Metabolism
Translation:
Humans
Animals
Cells
Sharma R, Reinstadler B, Engelstad K,
Skinner OS
, Stackowitz E, Haller RG, Clish CB, Pierce K,
Walker MA
, Fryer R, Oglesbee D, Mao X, Shungu DC, Khatri A, Hirano M, De Vivo DC,
Mootha VK
. Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity. J Clin Invest. 2021 01 19; 131(2).
PMID:
33463549
; PMCID:
PMC7810486
.
Citations:
15
Fields:
Med
Medicine (General)
Translation:
Humans
CT
Clinical Trials
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
. MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations. Nucleic Acids Res. 2021 01 08; 49(D1):D1541-D1547.
PMID:
33174596
.
Citations:
116
Fields:
Bio
Biochemistry
Translation:
Humans
Animals
Cells
Shivaraju M, Chitta UK, Grange RMH, Jain IH, Capen D, Liao L, Xu J,
Ichinose F
, Zapol WM,
Mootha VK
,
Rajagopal J
. Airway stem cells sense hypoxia and differentiate into protective solitary neuroendocrine cells. Science. 2021 01 01; 371(6524):52-57.
PMID:
33384370
.
Citations:
14
Fields:
Sci
Science
Translation:
Humans
Animals
Cells
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, Paim JF, Navarro MM, 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, Lochmüller H, DiMauro S, Minczuk M, Chinnery PF, Müller JS, Horvath R. Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency. EMBO J. 2020 12 01; 39(23):e105364.
PMID:
33128823
; PMCID:
PMC7705457
.
Citations:
8
Fields:
Bio
Biotechnology
Mol
Molecular Biology
Translation:
Humans
Cells
Walker MA
, Lareau CA, Ludwig LS,
Karaa A
,
Sankaran VG
, Regev A,
Mootha VK
. Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells. N Engl J Med. 2020 10 15; 383(16):1556-1563.
PMID:
32786181
; PMCID:
PMC7593775
.
Citations:
9
Fields:
Med
Medicine (General)
Translation:
Humans
Cells
Wang Y, Han Y, She J, Nguyen NX,
Mootha VK
, Bai XC, Jiang Y. Structural insights into the Ca2+-dependent gating of the human mitochondrial calcium uniporter. Elife. 2020 08 07; 9.
PMID:
32762847
.
Citations:
13
Fields:
Bio
Biology
Translation:
Humans
Cells
MacEwen MJ, Markhard AL, Bozbeyoglu M, Bradford F, Goldberger O,
Mootha VK
, Sancak Y. Evolutionary divergence reveals the molecular basis of EMRE dependence of the human MCU. Life Sci Alliance. 2020 10; 3(10).
PMID:
32769116
.
Citations:
1
Fields:
Bio
Biochemistry
Cel
Cell Biology
Mol
Molecular Biology
Translation:
Humans
Animals
Cells
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, Jeroen Vermeulen R, Wiltshire EJ, Fletcher JM, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Bhattacharya K, Freckmann ML, Arbuckle S, Rodriguez M, Taft RJ, Sadedin S, Cowley MJ, Minoche AE,
Calvo SE
,
Mootha VK
, Ryan MT, Okazaki Y, Stroud DA, Simons C, Christodoulou J, Thorburn DR. Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus. Med (N Y). 2021 01 15; 2(1):49-73.
PMID:
33575671
; PMCID:
PMC7875323
.
Citations:
8
Translation:
Humans
Mok BY, de Moraes MH, Zeng J, Bosch DE,
Kotrys AV
, Raguram A, Hsu F, Radey MC, Peterson SB,
Mootha VK
, Mougous JD, Liu DR. A bacterial cytidine deaminase toxin enables CRISPR-free mitochondrial base editing. Nature. 2020 07; 583(7817):631-637.
PMID:
32641830
.
Citations:
128
Fields:
Sci
Science
Translation:
Humans
Cells
Ghosh S, Basu Ball W, Madaris TR, Srikantan S, Madesh M,
Mootha VK
, Gohil VM. An essential role for cardiolipin in the stability and function of the mitochondrial calcium uniporter. Proc Natl Acad Sci U S A. 2020 07 14; 117(28):16383-16390.
PMID:
32601238
.
Citations:
22
Fields:
Sci
Science
Translation:
Humans
Animals
Cells
Mick E, Titov DV,
Skinner OS
, Sharma R, Jourdain AA,
Mootha VK
. Distinct mitochondrial defects trigger the integrated stress response depending on the metabolic state of the cell. Elife. 2020 05 28; 9.
PMID:
32463360
; PMCID:
PMC7255802
.
Citations:
28
Fields:
Bio
Biology
Translation:
Humans
Animals
Cells
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
. Hepatic NADH reductive stress underlies common variation in metabolic traits. Nature. 2020 07; 583(7814):122-126.
PMID:
32461692
; PMCID:
PMC7536642
.
Citations:
28
Fields:
Sci
Science
Translation:
Humans
Animals
Cells
Gohil VM, Nilsson R, Belcher-Timme CA, Luo B, Root DE,
Mootha VK
. Correction: Mitochondrial and nuclear genomic responses to loss of LRPPRC expression. J Biol Chem. 2020 Apr 17; 295(16):5533.
PMID:
33509593
.
Citations:
Fields:
Bio
Biochemistry
Gohil VM, Nilsson R, Belcher-Timme CA, Luo B, Root DE,
Mootha VK
. Correction: Mitochondrial and nuclear genomic responses to loss of LRPPRC expression. J Biol Chem. 2020 Apr 17; 295(16):5533.
PMID:
32303645
.
Citations:
Fields:
Bio
Biochemistry
Jain IH,
Calvo SE
, Markhard AL,
Skinner OS
, To TL, Ast T,
Mootha VK
. Genetic Screen for Cell Fitness in High or Low Oxygen Highlights Mitochondrial and Lipid Metabolism. Cell. 2020 04 30; 181(3):716-727.e11.
PMID:
32259488
.
Citations:
44
Fields:
Cel
Cell Biology
Translation:
Humans
Cells
Patgiri A,
Skinner OS
, Miyazaki Y, Schleifer G,
Marutani E
, Shah H, Sharma R,
Goodman RP
, To TL, Robert Bao X,
Ichinose F
, Zapol WM,
Mootha VK
. An engineered enzyme that targets circulating lactate to alleviate intracellular NADH:NAD+ imbalance. Nat Biotechnol. 2020 03; 38(3):309-313.
PMID:
31932725
.
Citations:
26
Fields:
Bio
Biotechnology
Translation:
Humans
Cells
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
. A Compendium of Genetic Modifiers of Mitochondrial Dysfunction Reveals Intra-organelle Buffering. Cell. 2019 11 14; 179(5):1222-1238.e17.
PMID:
31730859
.
Citations:
40
Fields:
Cel
Cell Biology
Translation:
Humans
Cells
Ruetz M, Campanello GC, Purchal M, Shen H, McDevitt L, Gouda H, Wakabayashi S, Zhu J,
Rubin EJ
, Warncke K,
Mootha VK
, Koutmos M, Banerjee R. Itaconyl-CoA forms a stable biradical in methylmalonyl-CoA mutase and derails its activity and repair. Science. 2019 11 01; 366(6465):589-593.
PMID:
31672889
.
Citations:
21
Fields:
Sci
Science
Translation:
Humans
Cells
Guièze R, Liu VM, Rosebrock D, Jourdain AA, Hernández-Sánchez M, Martinez Zurita A, Sun J,
Ten Hacken E
, 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,
Keskin DB
, Udeshi ND, Wierda WG, Livak KJ,
Letai AG
,
Neuberg D
,
Harper JW
, Carr SA, Piccioni F,
Ott CJ
, Leshchiner I, Johannessen CM, Doench J,
Mootha VK
,
Getz G
,
Wu CJ
. Mitochondrial Reprogramming Underlies Resistance to BCL-2 Inhibition in Lymphoid Malignancies. Cancer Cell. 2019 10 14; 36(4):369-384.e13.
PMID:
31543463
.
Citations:
91
Fields:
Neo
Neoplasms
Translation:
Humans
Animals
Cells
Ast T,
Mootha VK
. Oxygen and mammalian cell culture: are we repeating the experiment of Dr. Ox? Nat Metab. 2019 09; 1(9):858-860.
PMID:
32694740
.
Citations:
27
Fields:
Met
Metabolism
Translation:
Animals
Jain IH,
Zazzeron L
, Goldberger O,
Marutani E
, Wojtkiewicz GR, Ast T, Wang H, Schleifer G, Stepanova A, Brepoels K, Schoonjans L, Carmeliet P, Galkin A,
Ichinose F
, Zapol WM,
Mootha VK
. Leigh Syndrome Mouse Model Can Be Rescued by Interventions that Normalize Brain Hyperoxia, but Not HIF Activation. Cell Metab. 2019 10 01; 30(4):824-832.e3.
PMID:
31402314
.
Citations:
32
Fields:
Cel
Cell Biology
Met
Metabolism
Translation:
Animals
Hung V, Lam SS, Udeshi ND, Svinkina T, Guzman G,
Mootha VK
, Carr SA, Ting AY. Correction: Proteomic mapping of cytosol-facing outer mitochondrial and ER membranes in living human cells by proximity biotinylation. Elife. 2019 Aug 05; 8.
PMID:
31378216
.
Citations:
1
Fields:
Bio
Biology
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
. Epstein-Barr-Virus-Induced One-Carbon Metabolism Drives B Cell Transformation. Cell Metab. 2019 09 03; 30(3):539-555.e11.
PMID:
31257153
.
Citations:
45
Fields:
Cel
Cell Biology
Met
Metabolism
Translation:
Humans
Cells
Flicker D, Sancak Y, Mick E, Goldberger O,
Mootha VK
. Exploring the In Vivo Role of the Mitochondrial Calcium Uniporter in Brown Fat Bioenergetics. Cell Rep. 2019 04 30; 27(5):1364-1375.e5.
PMID:
31042465
.
Citations:
10
Fields:
Cel
Cell Biology
Mol
Molecular Biology
Translation:
Animals
Cells
Ast T,
Meisel JD
, Patra S, Wang H, Grange RMH, Kim SH,
Calvo SE
,
Orefice LL
, Nagashima F,
Ichinose F
, Zapol WM,
Ruvkun G
, Barondeau DP,
Mootha VK
. Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis. Cell. 2019 05 30; 177(6):1507-1521.e16.
PMID:
31031004
.
Citations:
32
Fields:
Cel
Cell Biology
Translation:
Humans
Animals
Cells
Lake NJ, Formosa LE, Stroud DA, Ryan MT,
Calvo SE
,
Mootha VK
, Morar B, Procopis PG, Christodoulou J, Compton AG, Thorburn DR. A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant. Hum Mutat. 2019 07; 40(7):893-898.
PMID:
30981218
; PMCID:
PMC6661004
.
Citations:
2
Fields:
Gen
Genetics
Translation:
Humans
Cells
Kamer KJ, Jiang W, Kaushik VK,
Mootha VK
, Grabarek Z. Crystal structure of MICU2 and comparison with MICU1 reveal insights into the uniporter gating mechanism. Proc Natl Acad Sci U S A. 2019 02 26; 116(9):3546-3555.
PMID:
30755530
; PMCID:
PMC6397551
.
Citations:
19
Fields:
Sci
Science
Translation:
Humans
Animals
Cells
Schleifer G,
Marutani E
, Ferrari M, Sharma R,
Skinner O
, Goldberger O, Grange RMH, Peneyra K,
Malhotra R
, Wepler M,
Ichinose F
,
Bloch DB
,
Mootha VK
, Zapol WM. Impaired hypoxic pulmonary vasoconstriction in a mouse model of Leigh syndrome. Am J Physiol Lung Cell Mol Physiol. 2019 02 01; 316(2):L391-L399.
PMID:
30520688
; PMCID:
PMC6397345
.
Citations:
2
Fields:
Cel
Cell Biology
Mol
Molecular Biology
Phy
Physiology
Pul
Pulmonary Medicine
Translation:
Animals
Cells
Gray MW,
Mootha VK
. Evolutionary mitochondrial biology in titisee. IUBMB Life. 2018 12; 70(12):1184-1187.
PMID:
30358089
.
Citations:
Fields:
Bio
Biochemistry
Mol
Molecular Biology
Translation:
Humans
Cells
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 10; 562(7728):E25.
PMID:
30108362
.
Citations:
Fields:
Sci
Science
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 08 13; 34(2):242-255.e5.
PMID:
30107175
.
Citations:
58
Fields:
Neo
Neoplasms
Translation:
Humans
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
; PMCID:
PMC6112746
.
Citations:
30
Fields:
Sci
Science
Translation:
Humans
Animals
Cells
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 07; 559(7715):570-574.
PMID:
29995855
; PMCID:
PMC6063787
.
Citations:
58
Fields:
Sci
Science
Translation:
Humans
Animals
Cells
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
.
Citations:
32
Fields:
Sci
Science
Translation:
Humans
Cells
Mootha VK
, Chinnery PF. Oxygen in mitochondrial disease: can there be too much of a good thing? J Inherit Metab Dis. 2018 09; 41(5):761-763.
PMID:
29948481
.
Citations:
4
Fields:
Met
Metabolism
Translation:
Humans
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
; PMCID:
PMC6323007
.
Citations:
25
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
; PMCID:
PMC5985357
.
Citations:
7
Fields:
Gen
Genetics
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
; PMCID:
PMC5961030
.
Citations:
36
Fields:
Bio
Biochemistry
Translation:
Humans
Animals
Cells
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 02 14; 14(3):206-214.
PMID:
29443976
; PMCID:
PMC5837046
.
Citations:
188
Fields:
Bio
Biology
Che
Chemistry
Translation:
Humans
Cells
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
; PMCID:
PMC5886265
.
Citations:
38
Fields:
Gen
Genetics
Mol
Molecular Biology
Translation:
Animals
Cells
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
.
Citations:
35
Fields:
Gen
Genetics
Mol
Molecular Biology
Translation:
Humans
Animals
Cells
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
.
Citations:
40
Fields:
Cel
Cell Biology
Translation:
Humans
Cells
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
; PMCID:
PMC8954634
.
Citations:
41
Fields:
Cli
Clinical Laboratory Techniques
Translation:
Humans
Cells
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
; PMCID:
PMC5664535
.
Citations:
25
Fields:
Sci
Science
Translation:
Humans
Animals
Cells
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
; PMCID:
PMC5630164
.
Citations:
30
Fields:
Gen
Genetics
Translation:
Humans
Animals
Cells
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
; PMCID:
PMC5605434
.
Citations:
27
Fields:
Bio
Biology
Che
Chemistry
Translation:
Humans
Cells
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
; PMCID:
PMC5544391
.
Citations:
40
Fields:
Gen
Genetics
Translation:
Humans
Cells
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
.
Citations:
15
Fields:
Com
Computational Biology
Translation:
Humans
Cells
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
; PMCID:
PMC5547614
.
Citations:
19
Fields:
Sci
Science
Translation:
Humans
Cells
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
.
Citations:
64
Fields:
Mol
Molecular Biology
Translation:
Humans
Cells
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
; PMCID:
PMC5448167
.
Citations:
54
Fields:
Sci
Science
Translation:
Animals
Cells
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
.
Citations:
114
Fields:
Bio
Biology
Translation:
Humans
Animals
Cells
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
.
Citations:
24
Fields:
Bio
Biochemistry
Cel
Cell Biology
Mol
Molecular Biology
Translation:
Humans
Animals
Cells
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
; PMCID:
PMC5474757
.
Citations:
98
Fields:
Cel
Cell Biology
Met
Metabolism
Translation:
Humans
Cells
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
.
Citations:
12
Fields:
Med
Medicine (General)
Sci
Science
Translation:
Animals
Cells
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
.
Citations:
32
Fields:
Bio
Biotechnology
Mol
Molecular Biology
Translation:
Humans
Cells
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
.
Citations:
145
Fields:
Bio
Biology
Translation:
Humans
Cells
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
.
Citations:
109
Fields:
Sci
Science
Translation:
Animals
Cells
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
.
Citations:
109
Fields:
Sci
Science
Translation:
Humans
Cells
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
; PMCID:
PMC4830195
.
Citations:
46
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
.
Citations:
165
Fields:
Sci
Science
Translation:
Humans
Animals
Cells
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
.
Citations:
16
Fields:
Nut
Nutritional Sciences
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
.
Citations:
61
Fields:
Cel
Cell Biology
Translation:
Animals
Cells
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
; PMCID:
PMC4644511
.
Citations:
51
Fields:
Cel
Cell Biology
Mol
Molecular Biology
Translation:
Humans
Cells
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
; PMCID:
PMC4702768
.
Citations:
593
Fields:
Bio
Biochemistry
Translation:
Humans
Animals
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
.
Citations:
134
Fields:
Mol
Molecular Biology
Translation:
Humans
Animals
Cells
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
.
Citations:
17
Fields:
Gen
Genetics
Med
Medicine (General)
Translation:
Humans
Animals
Cells
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
.
Citations:
3
Fields:
Gen
Genetics
Mol
Molecular Biology
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
.
Citations:
67
Fields:
Cel
Cell Biology
Met
Metabolism
Translation:
Animals
Cells
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
.
Citations:
402
Fields:
Cli
Clinical Laboratory Techniques
Translation:
Humans
Animals
Cells
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
.
Citations:
23
Fields:
Bio
Biochemistry
Met
Metabolism
Mol
Molecular Biology
Translation:
Humans
CT
Clinical Trials
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
.
Citations:
9
Fields:
Bio
Biochemistry
Translation:
Humans
Cells
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
.
Citations:
47
Fields:
Gen
Genetics
Neu
Neurology
Translation:
Humans
Cells
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
.
Citations:
186
Fields:
Cel
Cell Biology
Mol
Molecular Biology
Translation:
Humans
Cells
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
.
Citations:
51
Fields:
Cel
Cell Biology
Translation:
Humans
Animals
Cells
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
.
Citations:
76
Fields:
Sci
Science
Translation:
Humans
Animals
Cells
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
.
Citations:
15
Fields:
Bio
Biochemistry
Bio
Biophysics
Translation:
Humans
Cells
Wolf AR,
Mootha VK
. Functional genomic analysis of human mitochondrial RNA processing. Cell Rep. 2014 May 08; 7(3):918-31.
PMID:
24746820
.
Citations:
44
Fields:
Cel
Cell Biology
Mol
Molecular Biology
Translation:
Humans
Cells
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
.
Citations:
22
Fields:
Gen
Genetics
Translation:
Humans
Cells
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
.
Citations:
33
Fields:
End
Endocrinology
Met
Metabolism
Phy
Physiology
Translation:
Animals
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
.
Citations:
113
Fields:
Mol
Molecular Biology
Translation:
Humans
Cells
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
.
Citations:
230
Fields:
Bio
Biology
Sci
Science
Translation:
Humans
Cells
Vafai SB,
Mootha VK
. Medicine. A common pathway for a rare disease? Science. 2013 Dec 20; 342(6165):1453-4.
PMID:
24357304
.
Citations:
16
Fields:
Sci
Science
Translation:
Animals
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
.
Citations:
18
Fields:
Gen
Genetics
Mol
Molecular Biology
Translation:
Humans
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
.
Citations:
298
Fields:
Sci
Science
Translation:
Humans
Cells
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
.
Citations:
24
Fields:
Bio
Biochemistry
Translation:
Humans
Animals
Cells
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
.
Citations:
28
Fields:
Gen
Genetics
Translation:
Humans
Animals
Chakravarti A, Clark AG,
Mootha VK
. Distilling pathophysiology from complex disease genetics. Cell. 2013 Sep 26; 155(1):21-6.
PMID:
24074858
.
Citations:
42
Fields:
Cel
Cell Biology
Translation:
Humans
Animals
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
.
Citations:
17
Fields:
Neu
Neurology
Translation:
Humans
Cells
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
; PMCID:
PMC4967498
.
Citations:
76
Fields:
Neu
Neurology
Translation:
Humans
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
.
Citations:
49
Fields:
Gen
Genetics
Mol
Molecular Biology
Translation:
Humans
Cells
Csordás G, Golenár T, Seifert EL, Kamer KJ, Sancak Y, Perocchi F, Moffat C, Weaver D, Perez SF, 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):976-987.
PMID:
23747253
.
Citations:
237
Fields:
Cel
Cell Biology
Met
Metabolism
Translation:
Humans
Animals
Cells
Chaudhuri D, Sancak Y,
Mootha VK
,
Clapham DE
. MCU encodes the pore conducting mitochondrial calcium currents. Elife. 2013 Jun 04; 2:e00704.
PMID:
23755363
.
Citations:
93
Fields:
Bio
Biology
Translation:
Humans
Cells
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
.
Citations:
8
Fields:
Neo
Neoplasms
Translation:
Humans
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
.
Citations:
74
Fields:
Neu
Neurology
Translation:
Humans
Cells
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
.
Citations:
212
Fields:
Med
Medicine (General)
Sci
Science
Translation:
Humans
Animals
Cells
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
.
Citations:
434
Fields:
Sci
Science
Translation:
Humans
Animals
Cells
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
.
Citations:
98
Fields:
Gen
Genetics
Translation:
Humans
Cells
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
.
Citations:
37
Fields:
Cel
Cell Biology
Mol
Molecular Biology
Translation:
Humans
Animals
Cells
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
.
Citations:
25
Fields:
Neu
Neurology
Vafai SB,
Mootha VK
. Mitochondrial disorders as windows into an ancient organelle. Nature. 2012 Nov 15; 491(7424):374-83.
PMID:
23151580
.
Citations:
288
Fields:
Sci
Science
Translation:
Humans
Cells
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
.
Citations:
260
Fields:
Bio
Biotechnology
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
.
Citations:
39
Fields:
Bra
Brain
Neu
Neurology
Translation:
Humans
Cells
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
.
Citations:
149
Fields:
Cel
Cell Biology
Translation:
Animals
Cells
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
.
Citations:
181
Fields:
Met
Metabolism
Ped
Pediatrics
Translation:
Humans
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
.
Citations:
602
Fields:
Sci
Science
Translation:
Humans
Cells
Bick AG,
Calvo SE
,
Mootha VK
. Evolutionary diversity of the mitochondrial calcium uniporter. Science. 2012 May 18; 336(6083):886.
PMID:
22605770
.
Citations:
83
Fields:
Sci
Science
Translation:
Humans
Animals
Cells
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
.
Citations:
27
Fields:
Med
Medicine (General)
Sci
Science
Translation:
Humans
Animals
Cells
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
.
Citations:
200
Fields:
Med
Medicine (General)
Sci
Science
Translation:
Humans
Cells
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
.
Citations:
14
Fields:
Gen
Genetics
Translation:
Humans
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
.
Citations:
42
Fields:
Bio
Biochemistry
Met
Metabolism
Mol
Molecular Biology
Translation:
Humans
Cells
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
.
Citations:
71
Fields:
Cel
Cell Biology
Met
Metabolism
Translation:
Humans
Cells
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
.
Citations:
12
Fields:
Bio
Biochemistry
Bio
Biology
Translation:
Humans
Animals
Cells
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
.
Citations:
814
Fields:
Sci
Science
Translation:
Humans
Animals
Cells
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
.
Citations:
1235
Fields:
Med
Medicine (General)
Mol
Molecular Biology
Translation:
Humans
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
.
Citations:
13
Fields:
Car
Cardiology
Pul
Pulmonary Medicine
Translation:
Humans
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
.
Citations:
21
Fields:
Gen
Genetics
Mol
Molecular Biology
Translation:
Humans
Animals
Cells
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
.
Citations:
37
Fields:
Gen
Genetics
Mol
Molecular Biology
Translation:
Humans
Cells
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
.
Citations:
152
Fields:
Gen
Genetics
Translation:
Humans
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
.
Citations:
282
Fields:
Gen
Genetics
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
.
Citations:
406
Fields:
Sci
Science
Translation:
Humans
Cells
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
.
Citations:
49
Fields:
Bio
Biochemistry
Translation:
Humans
Cells
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
.
Citations:
72
Fields:
Mol
Molecular Biology
Translation:
Animals
Cells
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
.
Citations:
2
Fields:
Car
Cardiology
Translation:
Humans
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
.
Citations:
163
Fields:
Bio
Biotechnology
Translation:
Humans
Animals
Cells
Mootha VK
,
Hirschhorn JN
. Inborn variation in metabolism. Nat Genet. 2010 Feb; 42(2):97-8.
PMID:
20104246
.
Citations:
9
Fields:
Gen
Genetics
Translation:
Humans
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
.
Citations:
66
Fields:
Sci
Science
Translation:
Humans
Animals
Cells
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
.
Citations:
1
Fields:
Med
Medicine (General)
Translation:
Humans
Calvo SE
,
Mootha VK
. The mitochondrial proteome and human disease. Annu Rev Genomics Hum Genet. 2010; 11:25-44.
PMID:
20690818
.
Citations:
237
Fields:
Gen
Genetics
Gen
Genetics
Translation:
Humans
Cells
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
.
Citations:
74
Fields:
Gen
Genetics
Translation:
Humans
Animals
Cells
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
.
Citations:
100
Fields:
Cel
Cell Biology
Met
Metabolism
Translation:
Animals
Cells
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
.
Citations:
392
Fields:
Sci
Science
Translation:
Humans
Cells
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
.
Citations:
78
Fields:
Gen
Genetics
Translation:
Humans
Cells
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
.
Citations:
111
Fields:
Med
Medicine (General)
Translation:
Humans
Animals
Cells
CT
Clinical Trials
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
.
Citations:
170
Fields:
Com
Computational Biology
Mol
Molecular Biology
Translation:
Humans
Cells
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
.
Citations:
897
Fields:
Cel
Cell Biology
Translation:
Humans
Animals
Cells
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
.
Citations:
1
Fields:
All
Allergy and Immunology
Med
Medicine (General)
Translation:
Cells
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
.
Citations:
88
Fields:
Bio
Biotechnology
Translation:
Animals
Cells
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
.
Citations:
645
Fields:
Sci
Science
Translation:
Animals
Cells
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
.
Citations:
177
Fields:
Med
Medicine (General)
Translation:
Humans
Animals
Cells
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
.
Citations:
218
Fields:
Med
Medicine (General)
Translation:
Humans
Animals
Cells
Baughman JM,
Mootha VK
. Buffering mitochondrial DNA variation. Nat Genet. 2006 Nov; 38(11):1232-3.
PMID:
17072298
.
Citations:
5
Fields:
Gen
Genetics
Translation:
Humans
Animals
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
.
Citations:
98
Fields:
Gen
Genetics
Translation:
Humans
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
.
Citations:
207
Fields:
Cel
Cell Biology
Translation:
Animals
Cells
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
.
Citations:
160
Fields:
Gen
Genetics
Translation:
Humans
Animals
Cells
Calvo S
, Jain M, Xie X, Sheth SA, Chang B, Goldberger OA, Spinazzola A, Zev