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ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency.
Vázquez-Fonseca L, Schaefer J, Navas-Enamorado I, Santos-Ocaña C, Hernández-Camacho JD, Guerra I, Cascajo MV, Sánchez-Cuesta A, Horvath Z, Siendones E, Jou C, Casado M, Gutiérrez P, Brea-Calvo G, López-Lluch G, Fernández-Ayala DJM, Cortés-Rodríguez AB, Rodríguez-Aguilera JC, Matté C, Ribes A, Prieto-Soler SY, Dominguez-Del-Toro E, Francesco AD, Aon MA, Bernier M, Salviati L, Artuch R, Cabo R, Jackson S, Navas P. Vázquez-Fonseca L, et al. Among authors: salviati l. J Clin Med. 2019 Sep 2;8(9):1374. doi: 10.3390/jcm8091374. J Clin Med. 2019. PMID: 31480808 Free PMC article.
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: salviati l. 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.
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: salviati l. 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.
Coenzyme Q deficiency triggers mitochondria degradation by mitophagy.
Rodríguez-Hernández A, Cordero MD, Salviati L, Artuch R, Pineda M, Briones P, Gómez Izquierdo L, Cotán D, Navas P, Sánchez-Alcázar JA. Rodríguez-Hernández A, et al. Among authors: salviati l. Autophagy. 2009 Jan;5(1):19-32. doi: 10.4161/auto.5.1.7174. Autophagy. 2009. PMID: 19115482 Free article.
Coenzyme Q10 distribution in blood is altered in patients with fibromyalgia.
Cordero MD, Moreno-Fernández AM, deMiguel M, Bonal P, Campa F, Jiménez-Jiménez LM, Ruiz-Losada A, Sánchez-Domínguez B, Sánchez Alcázar JA, Salviati L, Navas P. Cordero MD, et al. Among authors: salviati l. Clin Biochem. 2009 May;42(7-8):732-5. doi: 10.1016/j.clinbiochem.2008.12.010. Epub 2008 Dec 25. Clin Biochem. 2009. PMID: 19133251
Coenzyme Q10 deficiencies in neuromuscular diseases.
Artuch R, Salviati L, Jackson S, Hirano M, Navas P. Artuch R, et al. Among authors: salviati l. 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.
Coenzyme Q deficiency in muscle.
Trevisson E, DiMauro S, Navas P, Salviati L. Trevisson E, et al. Among authors: salviati l. Curr Opin Neurol. 2011 Oct;24(5):449-56. doi: 10.1097/WCO.0b013e32834ab528. Curr Opin Neurol. 2011. PMID: 21844807 Review.
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. J Med Genet. 2012 Mar;49(3):187-91. doi: 10.1136/jmedgenet-2011-100394. J Med Genet. 2012. PMID: 22368301 Free PMC article.
199 results