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
TXNIP regulates peripheral glucose metabolism in humans
Hemang Parikh,Emma Carlsson,Emma Carlsson,William A. Chutkow,Lovisa Johansson,Heidi Storgaard,Pernille Poulsen,Richa Saxena,Richa Saxena,Christine Ladd,P. Christian Schulze,Michael J. Mazzini,Christine B. Jensen,Anna Krook,Marie Björnholm,Hans Tornqvist,Juleen R. Zierath,Martin Ridderstråle,David Altshuler,David Altshuler,Richard T. Lee,Allan Vaag,Allan Vaag,Leif Groop,Leif Groop,Vamsi K. Mootha,Vamsi K. Mootha +26 more
TL;DR: The data suggest that TXNIP might play a key role in defective glucose homeostasis preceding overt T2DM, as it regulates both insulin-dependent and insulin-independent pathways of glucose uptake in human skeletal muscle.
Journal ArticleDOI
Metabolic enzyme expression highlights a key role for MTHFD2 and the mitochondrial folate pathway in cancer
Roland Nilsson,Mohit Jain,Nikhil Madhusudhan,Nina Gustafsson Sheppard,Laura Strittmatter,Caroline Kampf,Jenny Huang,Anna Asplund,Vamsi K. Mootha +8 more
TL;DR: This study compares messenger RNA profiles of 1,454 metabolic enzymes across 1,981 tumours spanning 19 cancer types to identify enzymes that are consistently differentially expressed and highlights the importance of mitochondrial compartmentalization of one-carbon metabolism in cancer and raises important therapeutic hypotheses.
Journal ArticleDOI
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
Sarah E. Calvo,Alison G. Compton,Steven G. Hershman,Steven G. Hershman,Sze Chern Lim,Sze Chern Lim,Daniel S. Lieber,Daniel S. Lieber,Elena J. Tucker,Elena J. Tucker,Adrienne Laskowski,Caterina Garone,Caterina Garone,Shangtao Liu,David B. Jaffe,John Christodoulou,John Christodoulou,Janice M. Fletcher,Damien L. Bruno,Jack Goldblatt,Salvatore DiMauro,David R. Thorburn,David R. Thorburn,Vamsi K. Mootha,Vamsi K. Mootha +24 more
TL;DR: target NGS in 42 unrelated infants with clinical and biochemical evidence of mitochondrial oxidative phosphorylation disease suggests that next-generation sequencing may be able to provide a molecular diagnosis for ~25% of currently unsolved cases of infantile mitochondrial disease.
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Proteomic Mapping of the Human Mitochondrial Intermembrane Space in Live Cells via Ratiometric APEX Tagging
Victoria Hung,Peng Zou,Hyun-Woo Rhee,Hyun-Woo Rhee,Namrata D. Udeshi,Valentin Cracan,Tanya Svinkina,Steven A. Carr,Vamsi K. Mootha,Vamsi K. Mootha,Alice Y. Ting,Alice Y. Ting +11 more
TL;DR: In this article, an engineered peroxidase (APEX) was applied to map the proteome of the mitochondrial intermembrane space (IMS), which can freely exchange small molecules with the cytosol.
Journal ArticleDOI
MICU1 controls both the threshold and cooperative activation of the mitochondrial Ca2+ uniporter
György Csordás,Tünde Golenár,Erin L. Seifert,Kimberli J. Kamer,Yasemin Sancak,Fabiana Perocchi,Fabiana Perocchi,Cynthia Moffat,David Weaver,Sergio de la Fuente Perez,Roman L. Bogorad,Victor Koteliansky,Jeffrey Adijanto,Vamsi K. Mootha,György Hajnóczky +14 more
TL;DR: The data indicate that MICU1 senses the [Ca(2+)]c to establish the uniporter's threshold and gain, thereby allowing mitochondria to properly decode different inputs.