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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Journal ArticleDOI
Targeted exome sequencing of suspected mitochondrial disorders in a hospital-based cohort
Daniel S. Lieber,Sarah E. Calvo,Nancy G. Slate,Shangtao Liu,Mark L. Borowsky,Steven G. Hershman,Nina B. Gold,Gerard T. Berry,David M. Mueller,Jeremy D. Schmahmann,Katherine B. Sims,Vamsi K. Mootha +11 more
Journal ArticleDOI
Hypoxia extends lifespan and neurological function in a mouse model of aging
Robert S. Rogers,Hong Wang,Timothy Durham,Jonathan A. Stefely,Norah Owiti,Andrew L. Markhard,Tsz-Leung To,Vamsi K. Mootha +7 more
TL;DR: This paper showed that chronic continuous hypoxia did not impact food intake and did not significantly affect markers of DNA damage or senescence in Ercc1 Δ/- mice, suggesting that hypoxias did not simply alleviate the proximal effects of the Ercc 1 mutation, but rather acted downstream via unknown mechanisms.
Journal Article
Biallelic mutations in MRPS34 lead to instability of the small mitoribosomal subunit and Leigh syndrome
Nicole J. Lake,Bryn D. Webb,David A. Stroud,Tara R. Richman,Benedetta Ruzzenente,Alison G. Compton,Hayley S. Mountford,Juliette Pulman,Coralie Zangarelli,Marlène Rio,Nathalie Bodaert,Zahra Assouline,Mingma D. Sherpa,Eric E. Schadt,Sander M. Houten,James Byrnes,Elizabeth M. McCormick,Zarazuela Zolkipli-Cunningham,Katrina Haude,Zhancheng Zhang,Kyle Retterer,Renkui Bai,Sarah E. Calvo,Vamsi K. Mootha,John Christodoulou,Agnès Rötig,Aleksandra Filipovska,Ingrid Cristian,Marni J. Falk,Marni J. Falk,Metodi D. Metodiev,David R. Thorburn +31 more
TL;DR: In this article, the authors reported four autosomal-recessive pathogenic mutations in the gene encoding the small mitoribosomal subunit protein, MRPS34, in six subjects from four unrelated families with Leigh syndrome and combined OXPHOS defects.