Lista de obras - Vamsi Mootha - Dominio Público Uruguay

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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

A genetically encoded system for oxygen generation in living cells

artículo científico publicado en 2022

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

artículo científico publicado en 2017

A mammalian organelle map by protein correlation profiling

artículo científico publicado en 2006

A mitochondrial protein compendium elucidates complex I disease biology

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

A systematic survey of lipids across mouse tissues

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2017

Architecture of the mitochondrial calcium uniporter

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado el 6 de enero de 2012

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

Buffering mitochondrial DNA variation

artículo científico publicado en 2006

Building an application framework for integrative genomics.

artículo científico publicado en 2003

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2022

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

artículo científico publicado en 2021

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

artículo científico publicado en 2017

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

artículo científico publicado en 2021

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

artículo científico publicado en 2021

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

artículo científico publicado en 2022

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

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2016

Comprehensive association testing of common mitochondrial DNA variation in metabolic disease

artículo científico publicado en 2006

Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2024

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

artículo científico publicado en 2017

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

artículo científico publicado en 2004

Directed evolution of APEX2 for electron microscopy and proximity labeling.

artículo científico publicado en 2014

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

artículo científico publicado en 2005

Distilling pathophysiology from complex disease genetics

artículo científico publicado en 2013

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

artículo científico publicado en 2020

EMRE is an essential component of the mitochondrial calcium uniporter complex

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado el 21 de octubre de 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

artículo científico publicado en 2004

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

artículo científico publicado en 2020

Evolutionary diversity of the mitochondrial calcium uniporter

artículo científico publicado en 2012

Evolutionary mitochondrial biology in titisee

scientific article published on 24 October 2018

Expansion of biological pathways based on evolutionary inference

artículo científico publicado en 2014

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

artículo científico publicado en 2019

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus

artículo científico publicado en 2020

Functional genomic analysis of human mitochondrial RNA processing

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico publicado en 2020

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

artículo científico publicado en 2017

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

artículo científico publicado en 2010

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood

artículo científico publicado en 2016

How many human proteoforms are there?

artículo científico publicado en 2018

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

artículo científico publicado en 2021

Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis

scientific article published on 25 April 2019

Hypoxia ameliorates brain hyperoxia and NAD+ deficiency in a murine model of Leigh syndrome

artículo científico publicado en 2021

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

artículo científico publicado en 2024

Hypoxia as a therapy for mitochondrial disease.

artículo científico publicado en 2016

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

artículo científico publicado en 2023

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2003

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

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

MCU encodes the pore conducting mitochondrial calcium currents ⬇️

artículo científico publicado el 4 de junio de 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2006

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

artículo científico publicado en 2015

Meclizine inhibits mitochondrial respiration through direct targeting of cytosolic phosphoethanolamine metabolism

artículo científico publicado en 2013

Meclizine is neuroprotective in models of Huntington's disease ⬇️

artículo científico publicado el 25 de octubre de 2010

Medicine. A common pathway for a rare disease?

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2008

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

artículo científico publicado en 2020

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

artículo científico publicado en 2012

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

artículo científico publicado en 2008

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2010

Mitochondrial disorders as windows into an ancient organelle ⬇️

artículo científico publicado el 15 de noviembre de 2012

Mitochondrial dysfunction remodels one-carbon metabolism in human cells

artículo científico publicado en 2016

Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.

artículo científico publicado en 2013

Mitochondrial genome copy number variation across tissues in mice and humans

artículo científico publicado en 2024

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

Natural Product Screening Reveals Naphthoquinone Complex I Bypass Factors.

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado el 1 de enero de 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

Nuclear genetic control of mtDNA copy number and heteroplasmy in humans

artículo científico publicado en 2023

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

artículo científico publicado en 2010

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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

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

artículo científico publicado en 2024

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico publicado en 2021

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

artículo científico publicado en 2024

Spatiotemporal Compartmentalization of Hepatic NADH and NADPH metabolism

artículo científico publicado en 2018

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

artículo científico publicado en 2020

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

artículo científico publicado en 2005

Systematic identification of human mitochondrial disease genes through integrative genomics

artículo científico publicado en 2006

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

scientific journal article

TXNIP regulates peripheral glucose metabolism in humans

artículo científico publicado en 2007

Targeted exome sequencing of suspected mitochondrial disorders

artículo científico publicado en 2013

The Human Knockout Gene CLYBL Connects Itaconate to Vitamin B12.

artículo científico publicado en 2017

The Mitochondrial Proteome and Human Disease ⬇️

artículo científico publicado el 1 de enero de 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

The molecular era of the mitochondrial calcium uniporter

artículo científico

The uniporter: from newly identified parts to function

scientific article published on 09 May 2014

Titration of mitochondrial fusion rescues Mff-deficient cardiomyopathy

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

scientific article published on 01 August 2018

Lista de obras de Vamsi Mootha

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

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

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

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

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

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

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

A genetically encoded system for oxygen generation in living cells

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

A mammalian organelle map by protein correlation profiling

A mitochondrial protein compendium elucidates complex I disease biology

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

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

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

A systematic survey of lipids across mouse tissues

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

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

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

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

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

Architecture of the mitochondrial calcium uniporter

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

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

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

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

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

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

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

Buffering mitochondrial DNA variation

Building an application framework for integrative genomics.

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

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

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

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

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

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

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

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

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

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

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

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

Comprehensive association testing of common mitochondrial DNA variation in metabolic disease

Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation

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

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

Cryo-EM structure of a fungal mitochondrial calcium uniporter

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

Cytosolic N6AMT1-dependent translation supports mitochondrial RNA processing

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

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

Directed evolution of APEX2 for electron microscopy and proximity labeling.

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

Disease gene discovery through integrative genomics

Distilling pathophysiology from complex disease genetics

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

EMRE is an essential component of the mitochondrial calcium uniporter complex

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

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

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

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

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

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

Evolutionary diversity of the mitochondrial calcium uniporter

Evolutionary mitochondrial biology in titisee

Expansion of biological pathways based on evolutionary inference

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

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

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

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

Functional genomic analysis of human mitochondrial RNA processing

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

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

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

Hepatic NADH reductive stress underlies common variation in metabolic traits

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

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

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood