V
Vamsi K. Mootha
Researcher at Broad Institute
Publications - 243
Citations - 90559
Vamsi K. Mootha is an academic researcher from Broad Institute. The author has contributed to research in topics: Mitochondrion & Mitochondrial DNA. The author has an hindex of 85, co-authored 227 publications receiving 73860 citations. Previous affiliations of Vamsi K. Mootha include Harvard University & Beth Israel Deaconess Medical Center.
Papers
More filters
Journal ArticleDOI
On the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models.
TL;DR: In this paper, the authors reviewed studies in which hypoxia reverses advanced leigh syndrome in a mouse model and discussed related conditions that are treatable, and presented two new cases with radiographic improvement.
Journal ArticleDOI
64 Systematic identification of human mitochondrial disease genes through integrative genomics
Sarah E. Calvo,Mohit Jain,Xiaohui Xie,Sunil A Sheth,Betty Chang,Olga Goldberger,Antonella Spinazzola,M Zeviani,Steven A. Carr,Vamsi K. Mootha +9 more
Journal ArticleDOI
Congenital hypermetabolism and uncoupled oxidative phosphorylation
Rebecca D. Ganetzky,Andrew L. Markhard,Irene Yee,Sheila Clever,Alan Cahill,Hardik Shah,Zenon Grabarek,Tsz-Leung To,Vamsi K. Mootha +8 more
TL;DR: The case of identical twin boys who presented with low body weight despite excessive caloric intake and an evaluation of their fibroblasts showed elevated oxygen consumption and decreased mitochondrial membrane potential support an autosomal dominant mitochondrial uncoupling syndrome with hypermetabolism.
Patent
Compositions and methods that promote the hypoxia response for treatment of mitochondrial dysfunction and oxidative stress disorders
TL;DR: In this paper, the authors describe methods of promoting hypoxia for the treatment or prevention of mitochondrial dysfunction and oxidative stress disorders, as well as methods for screening for targets of targets of mitochondria dysfunction and OSS disorders.
Journal ArticleDOI
Mitochondrial Clearance of Calcium Facilitated by MICU2 Controls Insulin Secretion
Neelanjan Vishnu,Alexander Hamilton,Annika Bagge,Anya Wernersson,Elaine Cowan,H. Barnard,Y. Sancak,Kimberli J. Kamer,Peter Spégel,Malin Fex,Anders Tengholm,Vamsi K. Mootha,David G. Nicholls,Hindrik Mulder +13 more
TL;DR: In this article, the consequences of deficiency of the accessory protein, MICU2, in rat and human insulin-secreting cells and mouse islets were examined; siRNA-silencing of Micu2 in INS1-832/13 and EndoC-βH1 cell lines was performed; mice were also studied.