Professor, Systems Biology, Harvard Medical School
Internal Medicine
Dr. Vamsi K. Mootha, MD
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Vamsi Mootha works in the field of Internal Medicine. He went to Harvard Medical School. Harvard Medical School is a one of the best medicals schools. Harvard Medical School is ranked 1/12 in Research/PrimaryCare. He has 2 awards "Elected Member" and "Whos Who in Medicine and Healthcare". Vamsi K. Mootha, MD is also a published MD. He has 67 publication published. The most recent publication is: Hypoxia as a therapy for mitochondrial disease.
Publications
- Hypoxia as a therapy for mitochondrial disease.
- Meclizine Preconditioning Protects the Kidney Against Ischemia-Reperfusion Injury.
- The molecular era of the mitochondrial calcium uniporter.
- Effects of sodium benzoate, a widely used food preservative, on glucose homeostasis and metabolic profiles in humans.
- Directed evolution of APEX2 for electron microscopy and proximity labeling.
- Biochemical Characterization of Pathogenic Mutations in Human Mitochondrial Methionyl-tRNA Formyltransferase.
- Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy.
- Proteomic Mapping of the Human Mitochondrial Intermembrane Space in Live Cells via Ratiometric APEX Tagging.
- The uniporter: From newly identified parts to function.
- Expansion of biological pathways based on evolutionary inference.
- Reconstitution of the mitochondrial calcium uniporter in yeast.
- A systematic survey of lipids across mouse tissues.
- Functional Genomic Analysis of Human Mitochondrial RNA Processing.
- MICU1 and MICU2 play nonredundant roles in the regulation of the mitochondrial calcium uniporter.
- Metabolic enzyme expression highlights a key role for MTHFD2 and the mitochondrial folate pathway in cancer.
- Medicine. A common pathway for a rare disease?
- CLYBL is a polymorphic human enzyme with malate synthase and β-methylmalate synthase activity.
- EMRE is an Essential Component of the Mitochondrial Calcium Uniporter Complex.
- Macrocytic Anemia and Mitochondriopathy Resulting from a Defect in Sideroflexin 4.
- Meclizine inhibits mitochondrial respiration through direct targeting of cytosolic phosphoethanolamine metabolism.
- Mitochondrial Encephalomyopathy Due to a Novel Mutation in ACAD9.
- Targeted exome sequencing of suspected mitochondrial disorders.
- MICU2, a Paralog of MICU1, Resides within the Mitochondrial Uniporter Complex to Regulate Calcium Handling.
- Circulating branched-chain amino acid concentrations are associated with obesity and future insulin resistance in children and adolescents.
- Complementary RNA and protein profiling identifies iron as a key regulator of mitochondrial biogenesis.
- Proteomic Mapping of Mitochondria in Living Cells via Spatially Restricted Enzymatic Tagging.
- Mitochondrial disorders as windows into an ancient organelle.
- Engineered ascorbate peroxidase as a genetically encoded reporter for electron microscopy.
- Evolutionary diversity of the mitochondrial calcium uniporter.
- A Chemical Screen Probing the Relationship between Mitochondrial Content and Cell Size.
- Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.
- Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.
- Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation.
- A small-molecule screening strategy to identify suppressors of statin myopathy.
- Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter.
- Metabolite profiles and the risk of developing diabetes.
- High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
- The mitochondrial proteome and human disease.
- Mitochondrial and nuclear genomic responses to loss of LRPPRC expression.
- The homeobox protein Prox1 is a negative modulator of ERR{alpha}/PGC-1{alpha} bioenergetic functions.
- Nutrient-sensitized screening for drugs that shift energy metabolism from mitochondrial respiration to glycolysis.
- Propranolol and the risk of hospitalized myopathy: translating chemical genomics findings into population-level hypotheses.
- Inborn variation in metabolism.
- A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells.
- A computational screen for regulators of oxidative phosphorylation implicates SLIRP in mitochondrial RNA homeostasis.
- Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis.
- Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.
- Metabolite profiling of blood from individuals undergoing planned myocardial infarction reveals early markers of myocardial injury.
- Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.
- A mitochondrial protein compendium elucidates complex I disease biology.
- Large-scale chemical dissection of mitochondrial function.
- Abnormal glucose homeostasis in skeletal muscle-specific PGC-1alpha knockout mice reveals skeletal muscle-pancreatic beta cell crosstalk.
- TXNIP regulates peripheral glucose metabolism in humans.
- Buffering mitochondrial DNA variation.
- Systematic identification of human mitochondrial disease genes through integrative genomics.
- MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
- A mammalian organelle map by protein correlation profiling.
- Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles.
- Relationship between testosterone levels, insulin sensitivity, and mitochondrial function in men.
- Disease gene discovery through integrative genomics.
- Defects in adaptive energy metabolism with CNS-linked hyperactivity in PGC-1alpha null mice.
- Erralpha and Gabpa/b specify PGC-1alpha-dependent oxidative phosphorylation gene expression that is altered in diabetic muscle.
- Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria.
- PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes.
- Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.
- Building an application framework for integrative genomics.
Schools
Harvard Medical School
Brigham39s and Women39s Hospital
Doctors Specialties
- Internal Medicine
Accepted Insurances
Awards
- Elected Member
- Whos Who in Medicine and Healthcare
Education
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Brigham and Women's Hospital -
Harvard Medical School
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