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Page 1
Genetics of coenzyme q10 deficiency.
Doimo M, Desbats MA, Cerqua C, Cassina M, Trevisson E, Salviati L. Doimo M, et al. Among authors: desbats ma. Mol Syndromol. 2014 Jul;5(3-4):156-62. doi: 10.1159/000362826. Mol Syndromol. 2014. PMID: 25126048 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: desbats ma. 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 presenting as fatal neonatal multiorgan failure.
Desbats MA, Vetro A, Limongelli I, Lunardi G, Casarin A, Doimo M, Spinazzi M, Angelini C, Cenacchi G, Burlina A, Rodriguez Hernandez MA, Chiandetti L, Clementi M, Trevisson E, Navas P, Zuffardi O, Salviati L. Desbats MA, et al. Eur J Hum Genet. 2015 Sep;23(9):1254-8. doi: 10.1038/ejhg.2014.277. Epub 2015 Jan 7. Eur J Hum Genet. 2015. PMID: 25564041 Free PMC article.
Coenzyme Q biosynthesis in health and disease.
Acosta MJ, Vazquez Fonseca L, Desbats MA, Cerqua C, Zordan R, Trevisson E, Salviati L. Acosta MJ, et al. Among authors: desbats ma. Biochim Biophys Acta. 2016 Aug;1857(8):1079-1085. doi: 10.1016/j.bbabio.2016.03.036. Epub 2016 Apr 7. Biochim Biophys Acta. 2016. PMID: 27060254 Free article. Review.
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. 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
Age-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence.
Tezze C, Romanello V, Desbats MA, Fadini GP, Albiero M, Favaro G, Ciciliot S, Soriano ME, Morbidoni V, Cerqua C, Loefler S, Kern H, Franceschi C, Salvioli S, Conte M, Blaauw B, Zampieri S, Salviati L, Scorrano L, Sandri M. Tezze C, et al. Among authors: desbats ma. Cell Metab. 2017 Jun 6;25(6):1374-1389.e6. doi: 10.1016/j.cmet.2017.04.021. Epub 2017 May 25. Cell Metab. 2017. PMID: 28552492 Free PMC article.
34 results