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Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.
Pavinato L, Stanic J, Barzasi M, Gurgone A, Chiantia G, Cipriani V, Eberini I, Palazzolo L, Di Luca M, Costa A, Marcantoni A, Biamino E, Spada M, Hiatt SM, Kelley WV, Vestito L, Sisodiya SM; Genomics England Research Consortium; Efthymiou S, Chand P, Kaiyrzhanov R, Bruselles A, Cardaropoli S, Tartaglia M, De Rubeis S, Buxbaum JD, Smedley D, Ferrero GB, Giustetto M, Gardoni F, Brusco A. Pavinato L, et al. Among authors: marcantoni a. Genet Med. 2023 Nov;25(11):100922. doi: 10.1016/j.gim.2023.100922. Epub 2023 Jul 1. Genet Med. 2023. PMID: 37403762 Free article.
mGluR5 PAMs rescue cortical and behavioural defects in a mouse model of CDKL5 deficiency disorder.
Gurgone A, Pizzo R, Raspanti A, Chiantia G, Devi S, Comai D, Morello N, Pilotto F, Gnavi S, Lupori L, Mazziotti R, Sagona G, Putignano E, Nocentini A, Supuran CT, Marcantoni A, Pizzorusso T, Giustetto M. Gurgone A, et al. Among authors: marcantoni a. Neuropsychopharmacology. 2023 May;48(6):877-886. doi: 10.1038/s41386-022-01412-3. Epub 2022 Aug 9. Neuropsychopharmacology. 2023. PMID: 35945276 Free PMC article.
p140Cap Regulates the Composition and Localization of the NMDAR Complex in Synaptic Lipid Rafts.
Angelini C, Morellato A, Alfieri A, Pavinato L, Cravero T, Bianciotto OT, Salemme V, Natalini D, Centonze G, Raspanti A, Garofalo T, Valdembri D, Serini G, Marcantoni A, Becchetti A, Giustetto M, Turco E, Defilippi P. Angelini C, et al. Among authors: marcantoni a. J Neurosci. 2022 Sep 21;42(38):7183-7200. doi: 10.1523/JNEUROSCI.1775-21.2022. J Neurosci. 2022. PMID: 35953295 Free PMC article.
Loss of ARHGAP15 affects the directional control of migrating interneurons in the embryonic cortex and increases susceptibility to epilepsy.
Liaci C, Camera M, Zamboni V, Sarò G, Ammoni A, Parmigiani E, Ponzoni L, Hidisoglu E, Chiantia G, Marcantoni A, Giustetto M, Tomagra G, Carabelli V, Torelli F, Sala M, Yanagawa Y, Obata K, Hirsch E, Merlo GR. Liaci C, et al. Among authors: marcantoni a. Front Cell Dev Biol. 2022 Dec 8;10:875468. doi: 10.3389/fcell.2022.875468. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36568982 Free PMC article.
62 results