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Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencies.
Fernández-Ayala DJ, Guerra I, Jiménez-Gancedo S, Cascajo MV, Gavilán A, Dimauro S, Hirano M, Briones P, Artuch R, De Cabo R, Salviati L, Navas P. Fernández-Ayala DJ, et al. Among authors: hirano m. BMJ Open. 2013 Mar 25;3(3):e002524. doi: 10.1136/bmjopen-2012-002524. BMJ Open. 2013. PMID: 23533218 Free PMC article.
Coenzyme Q10 deficiencies in neuromuscular diseases.
Artuch R, Salviati L, Jackson S, Hirano M, Navas P. Artuch R, et al. Among authors: hirano m. Adv Exp Med Biol. 2009;652:117-28. doi: 10.1007/978-90-481-2813-6_8. Adv Exp Med Biol. 2009. PMID: 20225022 Free PMC article. Review.
Human coenzyme Q10 deficiency.
Quinzii CM, DiMauro S, Hirano M. Quinzii CM, et al. Among authors: hirano m. Neurochem Res. 2007 Apr-May;32(4-5):723-7. doi: 10.1007/s11064-006-9190-z. Epub 2006 Nov 10. Neurochem Res. 2007. PMID: 17094036 Free PMC article. Review.
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.
López-Martín JM, Salviati L, Trevisson E, Montini G, DiMauro S, Quinzii C, Hirano M, Rodriguez-Hernandez A, Cordero MD, Sánchez-Alcázar JA, Santos-Ocaña C, Navas P. López-Martín JM, et al. Among authors: hirano m. Hum Mol Genet. 2007 May 1;16(9):1091-7. doi: 10.1093/hmg/ddm058. Epub 2007 Mar 20. Hum Mol Genet. 2007. PMID: 17374725 Free PMC article.
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.
Desbats MA, Morbidoni V, Silic-Benussi M, Doimo M, Ciminale V, Cassina M, Sacconi S, Hirano M, Basso G, Pierrel F, Navas P, Salviati L, Trevisson E. Desbats MA, et al. Among authors: hirano m. Hum Mol Genet. 2016 Oct 1;25(19):4256-4265. doi: 10.1093/hmg/ddw257. Epub 2016 Aug 4. Hum Mol Genet. 2016. PMID: 27493029
Mutations in coenzyme Q10 biosynthetic genes.
DiMauro S, Quinzii CM, Hirano M. DiMauro S, et al. Among authors: hirano m. J Clin Invest. 2007 Mar;117(3):587-9. doi: 10.1172/JCI31423. J Clin Invest. 2007. PMID: 17332886 Free PMC article.
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.
Salviati L, Trevisson E, Rodriguez Hernandez MA, Casarin A, Pertegato V, Doimo M, Cassina M, Agosto C, Desbats MA, Sartori G, Sacconi S, Memo L, Zuffardi O, Artuch R, Quinzii C, Dimauro S, Hirano M, Santos-Ocaña C, Navas P. Salviati L, et al. Among authors: hirano m. J Med Genet. 2012 Mar;49(3):187-91. doi: 10.1136/jmedgenet-2011-100394. J Med Genet. 2012. PMID: 22368301 Free PMC article.
Primary coenzyme Q10 deficiency and the brain.
Naini A, Lewis VJ, Hirano M, DiMauro S. Naini A, et al. Among authors: hirano m. Biofactors. 2003;18(1-4):145-52. doi: 10.1002/biof.5520180217. Biofactors. 2003. PMID: 14695930
Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.
Casarin A, Jimenez-Ortega JC, Trevisson E, Pertegato V, Doimo M, Ferrero-Gomez ML, Abbadi S, Artuch R, Quinzii C, Hirano M, Basso G, Ocaña CS, Navas P, Salviati L. Casarin A, et al. Among authors: hirano m. Biochem Biophys Res Commun. 2008 Jul 18;372(1):35-9. doi: 10.1016/j.bbrc.2008.04.172. Epub 2008 May 12. Biochem Biophys Res Commun. 2008. PMID: 18474229 Free PMC article.
2,262 results