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.
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Journal ArticleDOI
Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis
Tslil Ast,Joshua D. Meisel,Shachin Patra,Hong Wang,Robert M. H. Grange,Sharon H. Kim,Sarah E. Calvo,Lauren L. Orefice,Fumiaki Nagashima,Fumito Ichinose,Warren M. Zapol,Gary Ruvkun,David P. Barondeau,Vamsi K. Mootha +13 more
TL;DR: It is reported that when grown in 1% ambient O2, FXN null yeast, human cells, and nematodes are fully viable and hypoxia is identified as a key environmental variable in the pathogenesis associated with FXN depletion, with important mechanistic and therapeutic implications.
Journal ArticleDOI
An engineered enzyme that targets circulating lactate to alleviate intracellular NADH:NAD+ imbalance.
Anupam Patgiri,Anupam Patgiri,Anupam Patgiri,Owen S. Skinner,Owen S. Skinner,Owen S. Skinner,Yusuke Miyazaki,Grigorij Schleifer,Eizo Marutani,Hardik Shah,Hardik Shah,Hardik Shah,Rohit Sharma,Rohit Sharma,Rohit Sharma,Russell P. Goodman,Tsz-Leung To,Tsz-Leung To,Tsz-Leung To,Xiaoyan Robert Bao,Fumito Ichinose,Warren M. Zapol,Vamsi K. Mootha,Vamsi K. Mootha,Vamsi K. Mootha +24 more
TL;DR: This study lays the groundwork for a class of injectable therapeutic enzymes that alleviates intracellular redox imbalances by directly targeting circulating redox-coupled metabolites, and improves NADH:NAD+ balance in the heart and brain.
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MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions.
Caterina Garone,Juan C. Rubio,Sarah E. Calvo,Ali Naini,Kurenai Tanji,Salvatore DiMauro,Vamsi K. Mootha,Michio Hirano +7 more
TL;DR: In addition to causing juvenile-onset disorders with mtDNA depletion, MPV17 mutations can cause adult-onsets multisystemic disease with multiple mtDNA deletions.
Journal ArticleDOI
Distilling Pathophysiology from Complex Disease Genetics
TL;DR: A set of criteria, akin to Koch's postulates for infectious disease, for assigning causality between genetic variants and human disease phenotypes is proposed.
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Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity
Rohit Sharma,Rohit Sharma,Bryn Reinstadler,Bryn Reinstadler,Kristin Engelstad,Owen S. Skinner,Owen S. Skinner,Erin Stackowitz,Ronald G. Haller,Ronald G. Haller,Clary B. Clish,Kerry A. Pierce,Melissa A. Walker,Melissa A. Walker,Robert Fryer,Devin Oglesbee,Xiangling Mao,Dikoma C. Shungu,Ashok Khatri,Michio Hirano,Darryl C. De Vivo,Vamsi K. Mootha,Vamsi K. Mootha +22 more
TL;DR: In this paper, a panel of organelle function tests related to NADH-reductive stress was defined for classification and monitoring of mt.3243A>G disease, and validated 20 analytes (1 protein, 19 metabolites) that distinguish patients with MELAS from controls.