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Coq7p relevant residues for protein activity and stability.
Busso C, Ferreira-Júnior JR, Paulela JA, Bleicher L, Demasi M, Barros MH. Busso C, et al. Biochimie. 2015 Dec;119:92-102. doi: 10.1016/j.biochi.2015.10.016. Epub 2015 Oct 21. Biochimie. 2015. PMID: 26497406
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
Lagier-Tourenne C, Tazir M, López LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, Tranchant C, Poch O, DiMauro S, Mandel JL, Barros MH, Hirano M, Koenig M. Lagier-Tourenne C, et al. Among authors: busso c. Am J Hum Genet. 2008 Mar;82(3):661-72. doi: 10.1016/j.ajhg.2007.12.024. Am J Hum Genet. 2008. PMID: 18319074 Free PMC article.
93 results