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Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment.
Cascajo-Almenara MV, Juliá-Palacios N, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart J, Nascimento A, Ortez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero D, García-Cazorla A, Pandey UB, Santos-Ocaña C, Artuch R. Cascajo-Almenara MV, et al. Among authors: salviati l. Eur J Hum Genet. 2024 Apr;32(4):426-434. doi: 10.1038/s41431-023-01526-2. Epub 2024 Feb 5. Eur J Hum Genet. 2024. PMID: 38316953
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.
199 results