Vamsi K Mootha
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Explore the profile of Vamsi K Mootha including associated specialties, affiliations and a list of published articles.
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Recent Articles
11.
Walker M, Li S, Livak K, Karaa A, Wu C, Mootha V
J Inherit Metab Dis
. 2024 Mar;
47(4):757-765.
PMID: 38499449
T cells have been shown to maintain a lower percentage (heteroplasmy) of the pathogenic m.3243A>G variant (MT-TL1, associated with maternally inherited diabetes and deafness [MIDD] and mitochondrial encephalomyopathy with lactic...
12.
Rogers R, Sharma R, Shah H, Skinner O, Guo X, Panda A, et al.
Metabolomics
. 2024 Mar;
20(2):36.
PMID: 38446263
Introduction: Sepsis is a highly morbid condition characterized by multi-organ dysfunction resulting from dysregulated inflammation in response to acute infection. Mitochondrial dysfunction may contribute to sepsis pathogenesis, but quantifying mitochondrial...
13.
To T, McCoy J, Ostriker N, Sandler L, Mannella C, Mootha V
Nat Metab
. 2024 Feb;
6(4):687-696.
PMID: 38413804
Our current understanding of mitochondrial organelle physiology has benefited from two broad approaches: classically, cuvette-based measurements with suspensions of isolated mitochondria, in which bioenergetic parameters are monitored acutely in response...
14.
Meisel J, Miranda M, Skinner O, Wiesenthal P, Wellner S, Jourdain A, et al.
Cell
. 2024 Jan;
187(3):659-675.e18.
PMID: 38215760
The electron transport chain (ETC) of mitochondria, bacteria, and archaea couples electron flow to proton pumping and is adapted to diverse oxygen environments. Remarkably, in mice, neurological disease due to...
15.
Ast T, Itoh Y, Sadre S, McCoy J, Namkoong G, Wengrod J, et al.
Mol Cell
. 2024 Jan;
84(2):359-374.e8.
PMID: 38199006
Friedreich's ataxia (FA) is a debilitating, multisystemic disease caused by the depletion of frataxin (FXN), a mitochondrial iron-sulfur (Fe-S) cluster biogenesis factor. To understand the cellular pathogenesis of FA, we...
16.
Singh C, Jin B, Shrestha N, Markhard A, Panda A, Calvo S, et al.
Cell Metab
. 2023 Dec;
36(1):144-158.e7.
PMID: 38101397
Common genetic variants in glucokinase regulator (GCKR), which encodes GKRP, a regulator of hepatic glucokinase (GCK), influence multiple metabolic traits in genome-wide association studies (GWASs), making GCKR one of the...
17.
Gupta R, Kanai M, Durham T, Tsuo K, McCoy J, Kotrys A, et al.
Nature
. 2023 Aug;
620(7975):839-848.
PMID: 37587338
Mitochondrial DNA (mtDNA) is a maternally inherited, high-copy-number genome required for oxidative phosphorylation. Heteroplasmy refers to the presence of a mixture of mtDNA alleles in an individual and has been...
18.
Joshi P, Sadre S, Guo X, McCoy J, Mootha V
J Biol Chem
. 2023 Jul;
299(9):105075.
PMID: 37481209
Iron-sulfur clusters (ISC) are essential cofactors that participate in electron transfer, environmental sensing, and catalysis. Amongst the most ancient ISC-containing proteins are the ferredoxin (FDX) family of electron carriers. Humans...
19.
Gopal R, Vantaku V, Panda A, Reimer B, Rath S, To T, et al.
Cancer Discov
. 2023 Jun;
13(8):1904-1921.
PMID: 37262067
Significance: HCC harbors abundant mitochondria, mitochondrial DNA mutations, and chromosomal losses. Using a CRISPR-Cas9 screen inspired by transcriptomic and metabolomic profiling, we identify molecular effectors essential for cell fitness. We...
20.
Ast T, Wang H, Marutani E, Nagashima F, Malhotra R, Ichinose F, et al.
Hum Mol Genet
. 2023 Jun;
32(16):2600-2610.
PMID: 37260376
Friedreich's ataxia (FA) is a devastating, multi-systemic neurodegenerative disease affecting thousands of people worldwide. We previously reported that oxygen is a key environmental variable that can modify FA pathogenesis. In...