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
Mitochondrial and Nuclear Genomic Responses to Loss of LRPPRC Expression
Vishal M. Gohil,Roland Nilsson,Roland Nilsson,Casey A. Belcher-Timme,Casey A. Belcher-Timme,Biao Luo,David E. Root,Vamsi K. Mootha,Vamsi K. Mootha +8 more
TL;DR: A genomic strategy is introduced to characterize a poorly studied gene that is mutated in Leigh syndrome, French-Canadian type, and it is discovered that a specific role for LRPPRC in the expression of all mitochondrial DNA-encoded mRNAs, but not the r RNAs, providing mechanistic insights into the enzymatic defects observed in the disease.
Journal ArticleDOI
Disease gene discovery through integrative genomics
TL;DR: Some of the emerging genomics technologies and data resources that can be used to infer gene function to prioritize candidate genes and how such approaches have recently been applied to discover genes underlying Mendelian disorders are reviewed.
Journal ArticleDOI
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome
Nicole J. Lake,Nicole J. Lake,Bryn D. Webb,David A. Stroud,Tara R. Richman,Benedetta Ruzzenente,Alison G. Compton,Alison G. Compton,Hayley S. Mountford,Hayley S. Mountford,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,Sarah E. Calvo,Vamsi K. Mootha,Vamsi K. Mootha,John Christodoulou,John Christodoulou,Agnès Rötig,Aleksandra Filipovska,Ingrid Cristian,Ingrid Cristian,Marni J. Falk,Metodi D. Metodiev,David R. Thorburn,David R. Thorburn +39 more
TL;DR: It is established that MRPS34 is required for normal function of the mitoribosome in humans and the power of quantitative proteomic analysis to identify signatures of defects in specific cellular pathways in fibroblasts from subjects with inherited disease is demonstrated.
Journal ArticleDOI
Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood
David Lewis-Smith,Kimberli J. Kamer,Helen Griffin,Anne-Marie Childs,Karen Pysden,Denis V. Titov,Jennifer Duff,Angela Pyle,Robert W. Taylor,Patrick Yu-Wai-Man,Venkateswaran Ramesh,Rita Horvath,Vamsi K. Mootha,Patrick F. Chinnery +13 more
TL;DR: The fluctuating clinical course is likely mediated through the mitochondrial calcium uniporter, which is regulated by MICU1, and cause fatigue and lethargy in patients with normal mitochondrial enzyme activities in muscle.
Journal ArticleDOI
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions
Dario Ronchi,Caterina Garone,Caterina Garone,Andreina Bordoni,Purificacion Gutierrez Rios,Sarah E. Calvo,Michela Ripolone,Michela Ranieri,Mafalda Rizzuti,Luisa Villa,Francesca Magri,Stefania Corti,Nereo Bresolin,Vamsi K. Mootha,Maurizio Moggio,Salvatore DiMauro,Giacomo P. Comi,Monica Sciacco +17 more
TL;DR: The findings reinforce the concept that mutations in genes involved in deoxyribonucleotide metabolism can cause diverse clinical phenotypes and suggest that DGUOK should be screened in patients harbouring mitochondrial DNA deletions in skeletal muscle.