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Page 1
Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells.
Walker MA, Lareau CA, Ludwig LS, Karaa A, Sankaran VG, Regev A, Mootha VK. Walker MA, et al. Among authors: mootha vk. N Engl J Med. 2020 Oct 15;383(16):1556-1563. doi: 10.1056/NEJMoa2001265. Epub 2020 Aug 12. N Engl J Med. 2020. PMID: 32786181 Free PMC article.
The mitochondrial proteome and human disease.
Calvo SE, Mootha VK. Calvo SE, et al. Among authors: mootha vk. Annu Rev Genomics Hum Genet. 2010;11:25-44. doi: 10.1146/annurev-genom-082509-141720. Annu Rev Genomics Hum Genet. 2010. PMID: 20690818 Free PMC article. Review.
Mitochondrial dysfunction remodels one-carbon metabolism in human cells.
Bao XR, Ong SE, Goldberger O, Peng J, Sharma R, Thompson DA, Vafai SB, Cox AG, Marutani E, Ichinose F, Goessling W, Regev A, Carr SA, Clish CB, Mootha VK. Bao XR, et al. Among authors: mootha vk. Elife. 2016 Jun 16;5:e10575. doi: 10.7554/eLife.10575. Elife. 2016. PMID: 27307216 Free PMC article.
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.
Garone C, D'Souza AR, Dallabona C, Lodi T, Rebelo-Guiomar P, Rorbach J, Donati MA, Procopio E, Montomoli M, Guerrini R, Zeviani M, Calvo SE, Mootha VK, DiMauro S, Ferrero I, Minczuk M. Garone C, et al. Among authors: mootha vk. Hum Mol Genet. 2017 Nov 1;26(21):4257-4266. doi: 10.1093/hmg/ddx314. Hum Mol Genet. 2017. PMID: 28973171 Free PMC article.
MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations.
Rath S, Sharma R, Gupta R, Ast T, Chan C, Durham TJ, Goodman RP, Grabarek Z, Haas ME, Hung WHW, Joshi PR, Jourdain AA, Kim SH, Kotrys AV, Lam SS, McCoy JG, Meisel JD, Miranda M, Panda A, Patgiri A, Rogers R, Sadre S, Shah H, Skinner OS, To TL, Walker MA, Wang H, Ward PS, Wengrod J, Yuan CC, Calvo SE, Mootha VK. Rath S, et al. Among authors: mootha vk. Nucleic Acids Res. 2021 Jan 8;49(D1):D1541-D1547. doi: 10.1093/nar/gkaa1011. Nucleic Acids Res. 2021. PMID: 33174596 Free PMC article.
Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.
Sharma R, Reinstadler B, Engelstad K, Skinner OS, Stackowitz E, Haller RG, Clish CB, Pierce K, Walker MA, Fryer R, Oglesbee D, Mao X, Shungu DC, Khatri A, Hirano M, De Vivo DC, Mootha VK. Sharma R, et al. Among authors: mootha vk. J Clin Invest. 2021 Jan 19;131(2):e136055. doi: 10.1172/JCI136055. J Clin Invest. 2021. PMID: 33463549 Free PMC article. Clinical Trial.
Mitochondrial DNA variation across 56,434 individuals in gnomAD.
Laricchia KM, Lake NJ, Watts NA, Shand M, Haessly A, Gauthier L, Benjamin D, Banks E, Soto J, Garimella K, Emery J; Genome Aggregation Database Consortium; Rehm HL, MacArthur DG, Tiao G, Lek M, Mootha VK, Calvo SE. Laricchia KM, et al. Among authors: mootha vk. Genome Res. 2022 Mar;32(3):569-582. doi: 10.1101/gr.276013.121. Epub 2022 Jan 24. Genome Res. 2022. PMID: 35074858 Free PMC article.
Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation.
Ganetzky RD, Markhard AL, Yee I, Clever S, Cahill A, Shah H, Grabarek Z, To TL, Mootha VK. Ganetzky RD, et al. Among authors: mootha vk. N Engl J Med. 2022 Oct 13;387(15):1395-1403. doi: 10.1056/NEJMoa2202949. N Engl J Med. 2022. PMID: 36239646 Free PMC article.
212 results