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A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia.
Di Gregorio E, Bianchi FT, Schiavi A, Chiotto AM, Rolando M, Verdun di Cantogno L, Grosso E, Cavalieri S, Calcia A, Lacerenza D, Zuffardi O, Retta SF, Stevanin G, Marelli C, Durr A, Forlani S, Chelly J, Montarolo F, Tempia F, Beggs HE, Reed R, Squadrone S, Abete MC, Brussino A, Ventura N, Di Cunto F, Brusco A. Di Gregorio E, et al. Among authors: ventura n. J Med Genet. 2013 Aug;50(8):543-51. doi: 10.1136/jmedgenet-2013-101542. Epub 2013 Jun 7. J Med Genet. 2013. PMID: 23749989 Free PMC article.
Autophagy induction extends lifespan and reduces lipid content in response to frataxin silencing in C. elegans.
Schiavi A, Torgovnick A, Kell A, Megalou E, Castelein N, Guccini I, Marzocchella L, Gelino S, Hansen M, Malisan F, Condò I, Bei R, Rea SL, Braeckman BP, Tavernarakis N, Testi R, Ventura N. Schiavi A, et al. Among authors: ventura n. Exp Gerontol. 2013 Feb;48(2):191-201. doi: 10.1016/j.exger.2012.12.002. Epub 2012 Dec 13. Exp Gerontol. 2013. PMID: 23247094 Free PMC article.
Healthy aging: what can we learn from Caenorhabditis elegans?
Torgovnick A, Schiavi A, Maglioni S, Ventura N. Torgovnick A, et al. Among authors: ventura n. Z Gerontol Geriatr. 2013 Oct;46(7):623-8. doi: 10.1007/s00391-013-0533-5. Z Gerontol Geriatr. 2013. PMID: 23949012 Review.
Mitochondrial autophagy promotes healthy aging.
Shaik A, Schiavi A, Ventura N. Shaik A, et al. Among authors: ventura n. Cell Cycle. 2016 Jul 17;15(14):1805-6. doi: 10.1080/15384101.2016.1181876. Epub 2016 Apr 26. Cell Cycle. 2016. PMID: 27115480 Free PMC article. No abstract available.
175 results