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Page 1
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.
Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES. Mootha VK, et al. Proc Natl Acad Sci U S A. 2003 Jan 21;100(2):605-10. doi: 10.1073/pnas.242716699. Epub 2003 Jan 14. Proc Natl Acad Sci U S A. 2003. PMID: 12529507 Free PMC article.
PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes.
Mootha VK, Lindgren CM, Eriksson KF, Subramanian A, Sihag S, Lehar J, Puigserver P, Carlsson E, Ridderstråle M, Laurila E, Houstis N, Daly MJ, Patterson N, Mesirov JP, Golub TR, Tamayo P, Spiegelman B, Lander ES, Hirschhorn JN, Altshuler D, Groop LC. Mootha VK, et al. Nat Genet. 2003 Jul;34(3):267-73. doi: 10.1038/ng1180. Nat Genet. 2003. PMID: 12808457
Erralpha and Gabpa/b specify PGC-1alpha-dependent oxidative phosphorylation gene expression that is altered in diabetic muscle.
Mootha VK, Handschin C, Arlow D, Xie X, St Pierre J, Sihag S, Yang W, Altshuler D, Puigserver P, Patterson N, Willy PJ, Schulman IG, Heyman RA, Lander ES, Spiegelman BM. Mootha VK, et al. Proc Natl Acad Sci U S A. 2004 Apr 27;101(17):6570-5. doi: 10.1073/pnas.0401401101. Epub 2004 Apr 20. Proc Natl Acad Sci U S A. 2004. PMID: 15100410 Free PMC article.
Disease gene discovery through integrative genomics.
Giallourakis C, Henson C, Reich M, Xie X, Mootha VK. Giallourakis C, et al. Among authors: mootha vk. Annu Rev Genomics Hum Genet. 2005;6:381-406. doi: 10.1146/annurev.genom.6.080604.162234. Annu Rev Genomics Hum Genet. 2005. PMID: 16124867 Review.
Large-scale chemical dissection of mitochondrial function.
Wagner BK, Kitami T, Gilbert TJ, Peck D, Ramanathan A, Schreiber SL, Golub TR, Mootha VK. Wagner BK, et al. Among authors: mootha vk. Nat Biotechnol. 2008 Mar;26(3):343-51. doi: 10.1038/nbt1387. Epub 2008 Feb 24. Nat Biotechnol. 2008. PMID: 18297058 Free PMC article.
211 results