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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: barros mh. 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.
Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.
Garcia-Diaz B, Barros MH, Sanna-Cherchi S, Emmanuele V, Akman HO, Ferreiro-Barros CC, Horvath R, Tadesse S, El Gharaby N, DiMauro S, De Vivo DC, Shokr A, Hirano M, Quinzii CM. Garcia-Diaz B, et al. Among authors: barros mh. Am J Hum Genet. 2012 Oct 5;91(4):729-36. doi: 10.1016/j.ajhg.2012.08.019. Epub 2012 Sep 27. Am J Hum Genet. 2012. PMID: 23022099 Free PMC article.
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. Among authors: barros mh. Biochimie. 2015 Dec;119:92-102. doi: 10.1016/j.biochi.2015.10.016. Epub 2015 Oct 21. Biochimie. 2015. PMID: 26497406
Saccharomyces cerevisiae coq10 null mutants are responsive to antimycin A.
Busso C, Tahara EB, Ogusucu R, Augusto O, Ferreira-Junior JR, Tzagoloff A, Kowaltowski AJ, Barros MH. Busso C, et al. Among authors: barros mh. FEBS J. 2010 Nov;277(21):4530-8. doi: 10.1111/j.1742-4658.2010.07862.x. Epub 2010 Sep 28. FEBS J. 2010. PMID: 20875086 Free PMC article.
Metabolic studies of a patient harbouring a novel S487L mutation in the catalytic subunit of AMPK.
Arita JH, Barros MH, Ravagnani FG, Ziosi M, Sanches LR, Picosse FR, Lopes TO, de Carvalho Aguiar P, Macabelli CH, Chiaratti MR, Pedroso JL, Quinzii CM, Barsottini OGP, Ferreiro-Barros CC. Arita JH, et al. Among authors: barros mh. Biochim Biophys Acta Mol Basis Dis. 2018 May;1864(5 Pt A):1896-1903. doi: 10.1016/j.bbadis.2018.03.011. Epub 2018 Mar 8. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 29526819 Free article.
96 results