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Page 1
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: salviati l. 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.
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function.
Spinazzi M, Cazzola S, Bortolozzi M, Baracca A, Loro E, Casarin A, Solaini G, Sgarbi G, Casalena G, Cenacchi G, Malena A, Frezza C, Carrara F, Angelini C, Scorrano L, Salviati L, Vergani L. Spinazzi M, et al. Among authors: salviati l. Hum Mol Genet. 2008 Nov 1;17(21):3291-302. doi: 10.1093/hmg/ddn225. Epub 2008 Aug 4. Hum Mol Genet. 2008. PMID: 18678599
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.
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.
Casarin A, Giorgi G, Pertegato V, Siviero R, Cerqua C, Doimo M, Basso G, Sacconi S, Cassina M, Rizzuto R, Brosel S, M Davidson M, Dimauro S, Schon EA, Clementi M, Trevisson E, Salviati L. Casarin A, et al. Among authors: salviati l. Orphanet J Rare Dis. 2012 Apr 19;7:21. doi: 10.1186/1750-1172-7-21. Orphanet J Rare Dis. 2012. PMID: 22515166 Free PMC article.
Mitochondrial cristae shape determines respiratory chain supercomplexes assembly and respiratory efficiency.
Cogliati S, Frezza C, Soriano ME, Varanita T, Quintana-Cabrera R, Corrado M, Cipolat S, Costa V, Casarin A, Gomes LC, Perales-Clemente E, Salviati L, Fernandez-Silva P, Enriquez JA, Scorrano L. Cogliati S, et al. Among authors: salviati l. Cell. 2013 Sep 26;155(1):160-71. doi: 10.1016/j.cell.2013.08.032. Epub 2013 Sep 19. Cell. 2013. PMID: 24055366 Free PMC article.
Genetics of coenzyme q10 deficiency.
Doimo M, Desbats MA, Cerqua C, Cassina M, Trevisson E, Salviati L. Doimo M, et al. Among authors: salviati l. Mol Syndromol. 2014 Jul;5(3-4):156-62. doi: 10.1159/000362826. Mol Syndromol. 2014. PMID: 25126048 Free PMC article.
208 results