V
Vamsi K. Mootha
Researcher at Broad Institute
Publications - 243
Citations - 90559
Vamsi K. Mootha is an academic researcher from Broad Institute. The author has contributed to research in topics: Mitochondrion & Mitochondrial DNA. The author has an hindex of 85, co-authored 227 publications receiving 73860 citations. Previous affiliations of Vamsi K. Mootha include Harvard University & Beth Israel Deaconess Medical Center.
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Bayesian Hidden Markov Tree Models for Clustering Genes with Shared Evolutionary History
TL;DR: The full statistical model and computational strategies underlying the original algorithm, CLustering by Inferred Models of Evolution (CLIME 1.0), are described and it is shown that CLIME 2.0 and CLIME1.1 outperform traditional methods that use simple metrics to measure co-evolution between pairs of genes.
Journal ArticleDOI
O.24 Loss of function of MGME1, a novel player in mitochondrial DNA replication, causes a distinct autosomal recessive mitochondrial disorder
Cornelia Kornblum,Thomas J. Nicholls,Tobias B. Haack,Susanne Schoeler,Viktoriya Peeva,Katharina Danhauser,Kerstin Hallmann,Gábor Zsurka,Joanna Rorbach,Arcangela Iuso,Thomas Wieland,Monica Sciacco,Dario Ronchi,Giacomo P. Comi,Maurizio Moggio,Catarina M. Quinzii,Salvatore DiMauro,Sarah E. Calvo,Vamsi K. Mootha,Thomas Klopstock,T. M. Strom,Thomas Meitinger,Michal Minczuk,Wolfram S. Kunz,Holger Prokisch +24 more
TL;DR: MGME1 is the first identified mitochondrial exonuclease shown to be involved in replication and might play an additional role in mtDNA repair and result in a distinct mitochondrial disorder.
Journal ArticleDOI
MICU1 and MICU2 Operate Together to Regulate the Uniporter
TL;DR: In this article, it was shown that MICU1 and MICU2 play complementary roles in the regulation of the uniporter of the mitochondria, and that their roles are complementary and non-redundant.
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Human genetic analyses of organelles highlight the nucleus in age-related trait heritability
Rahul Gupta,Rahul Gupta,Rahul Gupta,Konrad J. Karczewski,Konrad J. Karczewski,Daniel P. Howrigan,Daniel P. Howrigan,Benjamin M. Neale,Benjamin M. Neale,Vamsi K. Mootha,Vamsi K. Mootha +10 more
TL;DR: In this paper, the authors report a striking lack of enrichment of mitochondria-relevant loci across GWAS for 24 age-related traits, particularly for the nucleus of the mitochondria.
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Human genetic analyses of organelles highlight the nucleus, but not the mitochondrion, in age-related trait heritability
Rahul Gupta,Rahul Gupta,Rahul Gupta,Konrad J. Karczewski,Konrad J. Karczewski,Daniel P. Howrigan,Daniel P. Howrigan,Benjamin M. Neale,Benjamin M. Neale,Vamsi K. Mootha,Vamsi K. Mootha +10 more
TL;DR: In this article, the authors evaluate if organelle-relevant loci confer greater-than-expected age-related disease risk and find that genes encoding several organelles tend to be “haplosufficient, while they observe strong purifying selection against protein-truncating variants impacting the nucleus.