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A Novel Mecp2Y120D Knock-in Model Displays Similar Behavioral Traits But Distinct Molecular Features Compared to the Mecp2-Null Mouse Implying Precision Medicine for the Treatment of Rett Syndrome.
Gandaglia A, Brivio E, Carli S, Palmieri M, Bedogni F, Stefanelli G, Bergo A, Leva B, Cattaneo C, Pizzamiglio L, Cicerone M, Bianchi V, Kilstrup-Nielsen C, D'Annessa I, Di Marino D, D'Adamo P, Antonucci F, Frasca A, Landsberger N. Gandaglia A, et al. Mol Neurobiol. 2019 Jul;56(7):4838-4854. doi: 10.1007/s12035-018-1412-2. Epub 2018 Nov 6. Mol Neurobiol. 2019. PMID: 30402709 Free article.
Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training.
Bianchi V, Farisello P, Baldelli P, Meskenaite V, Milanese M, Vecellio M, Mühlemann S, Lipp HP, Bonanno G, Benfenati F, Toniolo D, D'Adamo P. Bianchi V, et al. Hum Mol Genet. 2009 Jan 1;18(1):105-17. doi: 10.1093/hmg/ddn321. Epub 2008 Oct 1. Hum Mol Genet. 2009. PMID: 18829665 Free PMC article.
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
Giannandrea M, Bianchi V, Mignogna ML, Sirri A, Carrabino S, D'Elia E, Vecellio M, Russo S, Cogliati F, Larizza L, Ropers HH, Tzschach A, Kalscheuer V, Oehl-Jaschkowitz B, Skinner C, Schwartz CE, Gecz J, Van Esch H, Raynaud M, Chelly J, de Brouwer AP, Toniolo D, D'Adamo P. Giannandrea M, et al. Am J Hum Genet. 2010 Feb 12;86(2):185-95. doi: 10.1016/j.ajhg.2010.01.011. Am J Hum Genet. 2010. PMID: 20159109 Free PMC article.
Growth defects and impaired cognitive-behavioral abilities in mice with knockout for Eif4h, a gene located in the mouse homolog of the Williams-Beuren syndrome critical region.
Capossela S, Muzio L, Bertolo A, Bianchi V, Dati G, Chaabane L, Godi C, Politi LS, Biffo S, D'Adamo P, Mallamaci A, Pannese M. Capossela S, et al. Am J Pathol. 2012 Mar;180(3):1121-1135. doi: 10.1016/j.ajpath.2011.12.008. Epub 2012 Jan 9. Am J Pathol. 2012. PMID: 22234171 Free article.
Disruption of ArhGAP15 results in hyperactive Rac1, affects the architecture and function of hippocampal inhibitory neurons and causes cognitive deficits.
Zamboni V, Armentano M, Sarò G, Ciraolo E, Ghigo A, Germena G, Umbach A, Valnegri P, Passafaro M, Carabelli V, Gavello D, Bianchi V, D'Adamo P, de Curtis I, El-Assawi N, Mauro A, Priano L, Ferri N, Hirsch E, Merlo GR. Zamboni V, et al. Sci Rep. 2016 Oct 7;6:34877. doi: 10.1038/srep34877. Sci Rep. 2016. PMID: 27713499 Free PMC article.
130 results