List of works - Vamsi Mootha

Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles

scientific article

A mitochondrial protein compendium elucidates complex I disease biology

scientific article

Systematic discovery of regulatory motifs in human promoters and 3' UTRs by comparison of several mammals

scientific article

Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria

scientific journal article

Metabolite profiling identifies a key role for glycine in rapid cancer cell proliferation

scientific article

Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter

scientific article

Defects in adaptive energy metabolism with CNS-linked hyperactivity in PGC-1alpha null mice

scientific article (publication date: October 2004)

MICU1 encodes a mitochondrial EF hand protein required for Ca(2+) uptake

scientific article

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

scientific article

Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans

scientific article

Proteomic mapping of mitochondria in living cells via spatially restricted enzymatic tagging.

scientific article published on 31 January 2013

Erralpha and Gabpa/b specify PGC-1alpha-dependent oxidative phosphorylation gene expression that is altered in diabetic muscle

scientific article

Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits

scientific article

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

scientific article

Directed evolution of APEX2 for electron microscopy and proximity labeling.

scientific article

Mitochondrial disorders as windows into an ancient organelle

scientific article published on November 15, 2012

A mammalian organelle map by protein correlation profiling

scientific article

EMRE is an essential component of the mitochondrial calcium uniporter complex

scientific article

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

scientific article

Metabolic profiling of the human response to a glucose challenge reveals distinct axes of insulin sensitivity

scientific article published on 5 August 2008

The Mitochondrial Proteome and Human Disease

scientific article published on January 1, 2010

Abnormal glucose homeostasis in skeletal muscle-specific PGC-1alpha knockout mice reveals skeletal muscle-pancreatic beta cell crosstalk

scientific article

Engineered ascorbate peroxidase as a genetically encoded reporter for electron microscopy

scientific article published on October 21, 2012

How many human proteoforms are there?

scientific article published in February 2018

TXNIP regulates peripheral glucose metabolism in humans

scientific article published in May 2007

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

scientific article

Systematic identification of human mitochondrial disease genes through integrative genomics

scientific article

MICU1 controls both the threshold and cooperative activation of the mitochondrial Ca²⁺ uniporter

scientific article published on June 2013

MICU2, a paralog of MICU1, resides within the mitochondrial uniporter complex to regulate calcium handling

scientific article

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

scientific article

Relationship between testosterone levels, insulin sensitivity, and mitochondrial function in men.

scientific article published in July 2005

Metabolic enzyme expression highlights a key role for MTHFD2 and the mitochondrial folate pathway in cancer

scientific article

TRPV4 is a regulator of adipose oxidative metabolism, inflammation, and energy homeostasis

scientific journal article

Nutrient-sensitized screening for drugs that shift energy metabolism from mitochondrial respiration to glycolysis

scientific article

Proteomic mapping of the human mitochondrial intermembrane space in live cells via ratiometric APEX tagging.

scientific article published on 4 July 2014

Mitochondrial dysfunction remodels one-carbon metabolism in human cells

scientific article

Metabolite profiling of blood from individuals undergoing planned myocardial infarction reveals early markers of myocardial injury

scientific article

Comprehensive association testing of common mitochondrial DNA variation in metabolic disease

scientific article

Hypoxia as a therapy for mitochondrial disease.

scientific article published on 25 February 2016

The molecular era of the mitochondrial calcium uniporter

scientific article published on August 19, 2015

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

scientific article

Architecture of the mitochondrial calcium uniporter

scientific article published on 02 May 2016

Large-scale chemical dissection of mitochondrial function

scientific article

Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis.

scientific article published on August 2009

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease

scientific article

New treatments for mitochondrial disease-no time to drop our standards

scientific article published on 02 July 2013

MICU 1 and MICU 2 play nonredundant roles in the regulation of the mitochondrial calcium uniporter

scientific article published on 06 February 2014

MCU encodes the pore conducting mitochondrial calcium currents

scientific article published on June 4, 2013

Evolutionary diversity of the mitochondrial calcium uniporter

scientific article published on May 2012

A computational screen for regulators of oxidative phosphorylation implicates SLIRP in mitochondrial RNA homeostasis

scientific article published on 14 August 2009

List of works by Vamsi Mootha

Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles

A mitochondrial protein compendium elucidates complex I disease biology

Systematic discovery of regulatory motifs in human promoters and 3' UTRs by comparison of several mammals

Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria

Metabolite profiling identifies a key role for glycine in rapid cancer cell proliferation

Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter

Defects in adaptive energy metabolism with CNS-linked hyperactivity in PGC-1alpha null mice

MICU1 encodes a mitochondrial EF hand protein required for Ca(2+) uptake

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans

Proteomic mapping of mitochondria in living cells via spatially restricted enzymatic tagging.

Erralpha and Gabpa/b specify PGC-1alpha-dependent oxidative phosphorylation gene expression that is altered in diabetic muscle

Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

Directed evolution of APEX2 for electron microscopy and proximity labeling.

Mitochondrial disorders as windows into an ancient organelle

A mammalian organelle map by protein correlation profiling

EMRE is an essential component of the mitochondrial calcium uniporter complex

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

Metabolic profiling of the human response to a glucose challenge reveals distinct axes of insulin sensitivity

The Mitochondrial Proteome and Human Disease

Abnormal glucose homeostasis in skeletal muscle-specific PGC-1alpha knockout mice reveals skeletal muscle-pancreatic beta cell crosstalk

Engineered ascorbate peroxidase as a genetically encoded reporter for electron microscopy

How many human proteoforms are there?

TXNIP regulates peripheral glucose metabolism in humans

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Systematic identification of human mitochondrial disease genes through integrative genomics

MICU1 controls both the threshold and cooperative activation of the mitochondrial Ca²⁺ uniporter

MICU2, a paralog of MICU1, resides within the mitochondrial uniporter complex to regulate calcium handling

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Relationship between testosterone levels, insulin sensitivity, and mitochondrial function in men.

Metabolic enzyme expression highlights a key role for MTHFD2 and the mitochondrial folate pathway in cancer

TRPV4 is a regulator of adipose oxidative metabolism, inflammation, and energy homeostasis

Nutrient-sensitized screening for drugs that shift energy metabolism from mitochondrial respiration to glycolysis

Proteomic mapping of the human mitochondrial intermembrane space in live cells via ratiometric APEX tagging.

Mitochondrial dysfunction remodels one-carbon metabolism in human cells

Metabolite profiling of blood from individuals undergoing planned myocardial infarction reveals early markers of myocardial injury

Comprehensive association testing of common mitochondrial DNA variation in metabolic disease

Hypoxia as a therapy for mitochondrial disease.

The molecular era of the mitochondrial calcium uniporter

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

Architecture of the mitochondrial calcium uniporter

Large-scale chemical dissection of mitochondrial function

Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis.

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease

New treatments for mitochondrial disease-no time to drop our standards

MICU 1 and MICU 2 play nonredundant roles in the regulation of the mitochondrial calcium uniporter

MCU encodes the pore conducting mitochondrial calcium currents

Evolutionary diversity of the mitochondrial calcium uniporter

A computational screen for regulators of oxidative phosphorylation implicates SLIRP in mitochondrial RNA homeostasis