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List of works by Vamsi Mootha

A Compendium of Genetic Modifiers of Mitochondrial Dysfunction Reveals Intra-organelle Buffering

scientific article published on 01 November 2019

A Genome-wide CRISPR Death Screen Identifies Genes Essential for Oxidative Phosphorylation

scientific article published on 9 September 2016

A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

scientific article

A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients.

scientific article published on 3 May 2018

A bacterial cytidine deaminase toxin enables CRISPR-free mitochondrial base editing

scientific article published on 08 July 2020

A chemical screen probing the relationship between mitochondrial content and cell size

scientific article

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

scientific article published on 14 August 2009

A genetically encoded system for oxygen generation in living cells

scientific article published on 25 October 2022

A genetically encoded tool for manipulation of NADP+/NADPH in living cells

scientific article

A mammalian organelle map by protein correlation profiling

scientific article

A mitochondrial protein compendium elucidates complex I disease biology

scientific article

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant

article

A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells

scientific article

A small-molecule screening strategy to identify suppressors of statin myopathy

scientific article

A systematic survey of lipids across mouse tissues

scientific article published on 11 February 2014

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

scientific article

Airway stem cells sense hypoxia and differentiate into protective solitary neuroendocrine cells

scientific article published on 01 January 2021

An engineered enzyme that targets circulating lactate to alleviate intracellular NADH:NAD+ imbalance

scientific article published on 13 January 2020

An essential role for cardiolipin in the stability and function of the mitochondrial calcium uniporter

scientific article published on 29 June 2020

Antibodies to biotin enable large-scale detection of biotinylation sites on proteins

scientific article published on 16 October 2017

Architecture of the mitochondrial calcium uniporter

scientific article published on 02 May 2016

Associations between plasma branched-chain amino acids, β-aminoisobutyric acid and body composition.

scientific article published on 3 February 2016

Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease ⬇️

scientific article published on January 6, 2012

Author Correction: Cryo-EM structure of a fungal mitochondrial calcium uniporter

scientific article published in Nature

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

scientific article published on 19 September 2017

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

scientific article published on August 2017

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

scientific article

Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase

scientific article

Buffering mitochondrial DNA variation

scientific article published on 01 November 2006

Building an application framework for integrative genomics.

scientific article

CLIC, a tool for expanding biological pathways based on co-expression across thousands of datasets

scientific article

CLYBL is a polymorphic human enzyme with malate synthase and β-methylmalate synthase activity

scientific article

CRISPR-free base editors with enhanced activity and expanded targeting scope in mitochondrial and nuclear DNA

scientific article published in September 2022

CYB561A3 is the key lysosomal iron reductase required for Burkitt B-cell growth and survival

scientific article published on 2 December 2021

Cardiovascular homeostasis dependence on MICU2, a regulatory subunit of the mitochondrial calcium uniporter

scientific article

Combinatorial G x G x E CRISPR screening and functional analysis highlights SLC25A39 in mitochondrial GSH transport

scientific article published on 6 October 2021

Combinatorial G x G x E CRISPR screening and functional analysis highlights SLC25A39 in mitochondrial GSH transport

scientific article published on 22 September 2021

Combinatorial GxGxE CRISPR screen identifies SLC25A39 in mitochondrial glutathione transport linking iron homeostasis to OXPHOS

scientific article published on 05 May 2022

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

scientific article

Comparative Analysis of Mitochondrial N-Termini from Mouse, Human, and Yeast.

scientific article published on 25 January 2017

Complementary RNA and protein profiling identifies iron as a key regulator of mitochondrial biogenesis

scientific article published on 10 January 2013

Complementation of mitochondrial electron transport chain by manipulation of the NAD+/NADH ratio

scientific article published on 7 April 2016

Comprehensive association testing of common mitochondrial DNA variation in metabolic disease

scientific article

Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation

scientific article published on 13 October 2022

Correction: A Computational Screen for Regulators of Oxidative Phosphorylation Implicates SLIRP in Mitochondrial RNA Homeostasis

Correction: Mitochondrial and nuclear genomic responses to loss of LRPPRC expression

scientific article published on 01 April 2020

Correction: Proteomic mapping of cytosol-facing outer mitochondrial and ER membranes in living human cells by proximity biotinylation

scientific article published on 05 August 2019

Cryo-EM structure of a fungal mitochondrial calcium uniporter

scientific article published in Nature

Crystal structure of MICU2 and comparison with MICU1 reveal insights into the uniporter gating mechanism

scientific article published on 12 February 2019

Cytosolic N6AMT1-dependent translation supports mitochondrial RNA processing

scientific article published on 2 July 2024

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

scientific article published on 25 August 2017

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

scientific article (publication date: October 2004)

Directed evolution of APEX2 for electron microscopy and proximity labeling.

scientific article

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

scientific article published on August 2009

Disease gene discovery through integrative genomics

scientific article

Distilling pathophysiology from complex disease genetics

scientific article

Distinct mitochondrial defects trigger the integrated stress response depending on the metabolic state of the cell

scientific article published on 28 May 2020

EMRE is an essential component of the mitochondrial calcium uniporter complex

scientific article

Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma

scientific article published on 18 June 2018

Effects of sodium benzoate, a widely used food preservative, on glucose homeostasis and metabolic profiles in humans

scientific article

Engineered ascorbate peroxidase as a genetically encoded reporter for electron microscopy ⬇️

scientific article published on October 21, 2012

Epstein-Barr-Virus-Induced One-Carbon Metabolism Drives B Cell Transformation

scientific article published on 27 June 2019

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

scientific article

Evolutionary divergence reveals the molecular basis of EMRE dependence of the human MCU

scientific article published on 07 August 2020

Evolutionary diversity of the mitochondrial calcium uniporter

scientific article published on May 2012

Evolutionary mitochondrial biology in titisee

scientific article published on 24 October 2018

Expansion of biological pathways based on evolutionary inference

scientific article

Exploring the In Vivo Role of the Mitochondrial Calcium Uniporter in Brown Fat Bioenergetics

scientific article published on 01 April 2019

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

scientific article

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

scientific article published on 28 May 2015

Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus

scientific article published on 09 July 2020

Functional genomic analysis of human mitochondrial RNA processing

scientific article

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

scientific article

Genetic Screen for Cell Fitness in High or Low Oxygen Highlights Mitochondrial and Lipid Metabolism

scientific article published on 03 April 2020

Global metabolic profiling reveals metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

scholarly article by Laura Strittmatter et al published September 2012 in Mitochondrion

Hepatic NADH reductive stress underlies common variation in metabolic traits

scientific article published on 27 May 2020

High-affinity cooperative Ca2+ binding by MICU1-MICU2 serves as an on-off switch for the uniporter.

scientific article published on 14 June 2017

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

scientific article

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood

scientific article published on 3 March 2016

How many human proteoforms are there?

scientific article published in February 2018

Human genetic analyses of organelles highlight the nucleus in age-related trait heritability

scientific article published in 2021

Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis

scientific article published on 25 April 2019

Hypoxia ameliorates brain hyperoxia and NAD<sup>+</sup> deficiency in a murine model of Leigh syndrome

scientific article published on 11 March 2021

Hypoxia and intra-complex genetic suppressors rescue complex I mutants by a shared mechanism

scientific article published in February 2024

Hypoxia as a therapy for mitochondrial disease.

scientific article published on 25 February 2016

Hypoxia extends lifespan and neurological function in a mouse model of aging

scientific article published on 23 May 2023

Hypoxia treatment reverses neurodegenerative disease in a mouse model of Leigh syndrome.

scientific article

IGF2BP2/IMP2-Deficient mice resist obesity through enhanced translation of Ucp1 mRNA and Other mRNAs encoding mitochondrial proteins

scientific article

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

scientific article

Impaired hypoxic pulmonary vasoconstriction in a mouse model of Leigh syndrome

scientific article published on 06 December 2018

Inborn variation in metabolism

scientific article published on 01 February 2010

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

scientific journal article

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

scientific article

Itaconyl-CoA forms a stable biradical in methylmalonyl-CoA mutase and derails its activity and repair

scientific article published on 01 November 2019

Large-scale chemical dissection of mitochondrial function

scientific article

Leigh Syndrome Mouse Model Can Be Rescued by Interventions that Normalize Brain Hyperoxia, but Not HIF Activation

scientific article published on 08 August 2019

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

scientific article

Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome.

scientific article published in September 2017

MCU encodes the pore conducting mitochondrial calcium currents ⬇️

scientific article published on June 4, 2013

MICU1 and MICU2 play nonredundant roles in the regulation of the mitochondrial calcium uniporter

scientific article published on 06 February 2014

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

scientific article published on June 2013

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

scientific article

MICU1 imparts the mitochondrial uniporter with the ability to discriminate between Ca2+ and Mn2+

scientific article published on 06 August 2018

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

scientific article

MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions

scientific article

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

scientific article

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

scientific article published on 10 October 2013

Meclizine Preconditioning Protects the Kidney Against Ischemia-Reperfusion Injury

scientific article

Meclizine inhibits mitochondrial respiration through direct targeting of cytosolic phosphoethanolamine metabolism

scientific article published on 19 October 2013

Meclizine is neuroprotective in models of Huntington's disease ⬇️

scientific article published on October 25, 2010

Medicine. A common pathway for a rare disease?

scientific article published in December 2013

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

scientific article

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

scientific article

Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy.

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

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

scientific article published on 31 October 2020

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

scientific article

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

scientific article

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

scientific article

MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations

scientific article published on 11 November 2020

Mitochondrial Reprogramming Underlies Resistance to BCL-2 Inhibition in Lymphoid Malignancies

scientific article published on 19 September 2019

Mitochondrial and nuclear genomic responses to loss of LRPPRC expression

scientific article

Mitochondrial disorders as windows into an ancient organelle ⬇️

scientific article published on November 15, 2012

Mitochondrial dysfunction remodels one-carbon metabolism in human cells

scientific article

Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.

scientific article published on September 2013

Mitochondrial genome copy number variation across tissues in mice and humans

scientific article published on 6 August 2024

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

scientific article

Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy.

scientific article published on 6 September 2014

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

scientific article

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

scientific article published on 28 June 2013

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

scientific article

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

Natural Product Screening Reveals Naphthoquinone Complex I Bypass Factors.

scientific article

Natural underlying mtDNA heteroplasmy as a potential source of intra-person hiPSC variability.

scientific article published on 19 July 2016

Neuraminidase inhibitors for influenza in healthy adults: what we don't know

scientific article published on January 1, 2010

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

scientific article published on 02 July 2013

Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency

scientific article

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

scientific article

Nuclear genetic control of mtDNA copy number and heteroplasmy in humans

scientific article published on 19 January 2023

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

scientific article

Oxygen and mammalian cell culture: are we repeating the experiment of Dr. Ox?

scientific article published on 01 September 2019

Oxygen in mitochondrial disease: can there be too much of a good thing?

scientific article published on 08 June 2018

PMF-seq: a highly scalable screening strategy for linking genetics to mitochondrial bioenergetics

scientific article published in April 2024

Propranolol and the risk of hospitalized myopathy: translating chemical genomics findings into population-level hypotheses

scientific article published in March 2010

Proteomic mapping of cytosol-facing outer mitochondrial and ER membranes in living human cells by proximity biotinylation

scientific article

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

scientific article published on 31 January 2013

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

scientific article published on 4 July 2014

Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells

scientific article published on 12 August 2020

Reconstitution of the mitochondrial calcium uniporter in yeast

scientific article

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

scientific article published in July 2005

SARS-CoV-2 hijacks folate and one-carbon metabolism for viral replication

scientific article

Single-cell analysis reveals context-dependent, cell-level selection of mtDNA

scientific article published on 24 April 2024

Spatiotemporal Compartmentalization of Hepatic NADH and NADPH metabolism

scientific article published on 7 March 2018

Structural insights into the Ca2+-dependent gating of the human mitochondrial calcium uniporter

scientific article published on 07 August 2020

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

scientific article

Systematic identification of human mitochondrial disease genes through integrative genomics

scientific article

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

scientific journal article

TXNIP regulates peripheral glucose metabolism in humans

scientific article

Targeted exome sequencing of suspected mitochondrial disorders

scientific article published on 17 April 2013

The Human Knockout Gene CLYBL Connects Itaconate to Vitamin B12.

scientific article published on 18 October 2017

The Mitochondrial Proteome and Human Disease ⬇️

scientific article published on January 1, 2010

The Sarcoid-Tuberculosis link: evidence from a high TB prevalence country

scientific article published on 25 March 2010

The homeobox protein Prox1 is a negative modulator of ERR{alpha}/PGC-1{alpha} bioenergetic functions

scientific article published on March 2010

The molecular era of the mitochondrial calcium uniporter

scientific article published on 19 August 2015

The uniporter: from newly identified parts to function

scientific article published on 09 May 2014

Titration of mitochondrial fusion rescues Mff-deficient cardiomyopathy

scientific article

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

scientific article

Vamsi Mootha: taking an inventory of mitochondria. Interview by Hema Bashyam

scientific article published on June 2008

Widespread Chromosomal Losses and Mitochondrial DNA Alterations as Genetic Drivers in Hürthle Cell Carcinoma

scientific article published on 01 August 2018

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