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Author Details

Vamsi K Mootha
Broad Institute of MIT and Harvard
1996
189
85
Emma Lundberg (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36711677Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.medRxiv2023
37587338Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.Nature2023
36711677Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.medRxiv2023
37198474Salvage of ribose from uridine or RNA supports glycolysis in nutrient-limited conditions.Nat Metab2023
37133451Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.Hum Mol Genet2023
37262067Effectors Enabling Adaptation to Mitochondrial Complex I Loss in Hürthle Cell Carcinoma.Cancer Discov2023
37260376Continuous, but not intermittent, regimens of hypoxia prevent and reverse ataxia in a murine model of Friedreich's ataxia.Hum Mol Genet2023
37481209Lipoylation is dependent on the ferredoxin FDX1 and dispensable under hypoxia in human cells.J Biol Chem2023
37220109Hypoxia extends lifespan and neurological function in a mouse model of aging.PLoS Biol2023
37587338Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.Nature2023
37481209Lipoylation is dependent on the ferredoxin FDX1 and dispensable under hypoxia in human cells.J Biol Chem2023
37220109Hypoxia extends lifespan and neurological function in a mouse model of aging.PLoS Biol2023
37133451Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.Hum Mol Genet2023
37198474Salvage of ribose from uridine or RNA supports glycolysis in nutrient-limited conditions.Nat Metab2023
37262067Effectors Enabling Adaptation to Mitochondrial Complex I Loss in Hürthle Cell Carcinoma.Cancer Discov2023
37260376Continuous, but not intermittent, regimens of hypoxia prevent and reverse ataxia in a murine model of Friedreich's ataxia.Hum Mol Genet2023
34656053On the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models.Curr Opin Neurobiol2022
36239646Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation.N Engl J Med2022
35513392Combinatorial GxGxE CRISPR screen identifies SLC25A39 in mitochondrial glutathione transport linking iron homeostasis to OXPHOS.Nat Commun2022
36163383Discovery and molecular basis of subtype-selective cyclophilin inhibitors.Nat Chem Biol2022
35379961CRISPR-free base editors with enhanced activity and expanded targeting scope in mitochondrial and nuclear DNA.Nat Biotechnol2022
36215519A genetically encoded system for oxygen generation in living cells.Proc Natl Acad Sci U S A2022
35780837A natural fusion of flavodiiron, rubredoxin, and rubredoxin oxidoreductase domains is a self-sufficient water-forming oxidase of Trichomonas vaginalis.J Biol Chem2022
34656053On the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models.Curr Opin Neurobiol2022
35074858Mitochondrial DNA variation across 56,434 individuals in gnomAD.Genome Res2022
35379961CRISPR-free base editors with enhanced activity and expanded targeting scope in mitochondrial and nuclear DNA.Nat Biotechnol2022
35780837A natural fusion of flavodiiron, rubredoxin, and rubredoxin oxidoreductase domains is a self-sufficient water-forming oxidase of Trichomonas vaginalis.J Biol Chem2022
35513392Combinatorial GxGxE CRISPR screen identifies SLC25A39 in mitochondrial glutathione transport linking iron homeostasis to OXPHOS.Nat Commun2022
36239646Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation.N Engl J Med2022
36163383Discovery and molecular basis of subtype-selective cyclophilin inhibitors.Nat Chem Biol2022
36215519A genetically encoded system for oxygen generation in living cells.Proc Natl Acad Sci U S A2022
35074858Mitochondrial DNA variation across 56,434 individuals in gnomAD.Genome Res2022
33174596MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations.Nucleic Acids Res2021
33752971Hypoxia ameliorates brain hyperoxia and NAD<sup>+</sup> deficiency in a murine model of Leigh syndrome.Mol Genet Metab2021
34232987CYB561A3 is the key lysosomal iron reductase required for Burkitt B-cell growth and survival.Blood2021
33852893Loss of LUC7L2 and U1 snRNP subunits shifts energy metabolism from glycolysis to OXPHOS.Mol Cell2021
33575671Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus.Med2021
33463549Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.J Clin Invest2021
33723254SARS-CoV-2 hijacks folate and one-carbon metabolism for viral replication.Nat Commun2021
33932586Mitochondrial clearance of calcium facilitated by MICU2 controls insulin secretion.Mol Metab2021
33764554Editorial: Mitochondrial medicine special issue.J Inherit Metab Dis2021
33174596MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations.Nucleic Acids Res2021
33384370Airway stem cells sense hypoxia and differentiate into protective solitary neuroendocrine cells.Science2021
33575671Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus.Med2021
33852893Loss of LUC7L2 and U1 snRNP subunits shifts energy metabolism from glycolysis to OXPHOS.Mol Cell2021
33764554Editorial: Mitochondrial medicine special issue.J Inherit Metab Dis2021
33752971Hypoxia ameliorates brain hyperoxia and NAD<sup>+</sup> deficiency in a murine model of Leigh syndrome.Mol Genet Metab2021
33932586Mitochondrial clearance of calcium facilitated by MICU2 controls insulin secretion.Mol Metab2021
33723254SARS-CoV-2 hijacks folate and one-carbon metabolism for viral replication.Nat Commun2021
34232987CYB561A3 is the key lysosomal iron reductase required for Burkitt B-cell growth and survival.Blood2021
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Collaborators

Co-authored papers 46
Broad Institute of MIT and Harvard
Co-authored papers 18
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Co-authored papers 14
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University of Melbourne, The Royal Children's Hospital
Co-authored papers 9
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School of Clinical Medicine, University of Cambridge
Co-authored papers 8
Karolinska Institutet
Co-authored papers 8
Critical Care and Pain Medicine at Massachusetts General Hospital
Co-authored papers 7
Broad Institute of Harvard and Massachusetts Institute of Technology (MIT)
Co-authored papers 7
Stanford University
Co-authored papers 7
Cumming School of Medicine, University of Calgary, 0 Hospital Drive NW
Co-authored papers 6
Vanderbilt-Ingram Cancer Center, Vanderbilt University
Co-authored papers 6
University of Massachusetts Chan Medical School
Co-authored papers 6
Massachusetts General Hospital
Co-authored papers 6
Co-authored papers 5
Broad Institute of MIT and Harvard
Co-authored papers 4
Broad Institute of Harvard and MIT
Co-authored papers 4
Washington University School of Medicine
Co-authored papers 4
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Co-authored papers 4
Co-authored papers 4
Massachusetts General Hospital
Co-authored papers 4
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Broad Institute of MIT and Harvard
Co-authored papers 4
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Vanderbilt University
Co-authored papers 3
Massachusetts General Hospital and Harvard Medical School
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School of Clinical Medicine, University of Cambridge
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