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A mitochondrial protein compendium elucidates complex I disease biology.
Pagliarini DJ, Calvo SE, Chang B, Sheth SA, Vafai SB, Ong SE, Walford GA, Sugiana C, Boneh A, Chen WK, Hill DE, Vidal M, Evans JG, Thorburn DR, Carr SA, Mootha VK. Pagliarini DJ, et al. Among authors: mootha vk. Cell. 2008 Jul 11;134(1):112-23. doi: 10.1016/j.cell.2008.06.016. Cell. 2008. PMID: 18614015 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.
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Calvo SE, Tucker EJ, Compton AG, Kirby DM, Crawford G, Burtt NP, Rivas M, Guiducci C, Bruno DL, Goldberger OA, Redman MC, Wiltshire E, Wilson CJ, Altshuler D, Gabriel SB, Daly MJ, Thorburn DR, Mootha VK. Calvo SE, et al. Among authors: mootha vk. Nat Genet. 2010 Oct;42(10):851-8. doi: 10.1038/ng.659. Epub 2010 Sep 5. Nat Genet. 2010. PMID: 20818383 Free PMC article.
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.
Fassone E, Duncan AJ, Taanman JW, Pagnamenta AT, Sadowski MI, Holand T, Qasim W, Rutland P, Calvo SE, Mootha VK, Bitner-Glindzicz M, Rahman S. Fassone E, et al. Among authors: mootha vk. Hum Mol Genet. 2010 Dec 15;19(24):4837-47. doi: 10.1093/hmg/ddq414. Epub 2010 Sep 21. Hum Mol Genet. 2010. PMID: 20858599 Free PMC article.
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, Dimauro S, Thorburn DR, Mootha VK. Calvo SE, et al. Among authors: mootha vk. Sci Transl Med. 2012 Jan 25;4(118):118ra10. doi: 10.1126/scitranslmed.3003310. Sci Transl Med. 2012. PMID: 22277967 Free PMC article.
212 results