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PRRT2 Is a Key Component of the Ca(2+)-Dependent Neurotransmitter Release Machinery.
Valente P, Castroflorio E, Rossi P, Fadda M, Sterlini B, Cervigni RI, Prestigio C, Giovedì S, Onofri F, Mura E, Guarnieri FC, Marte A, Orlando M, Zara F, Fassio A, Valtorta F, Baldelli P, Corradi A, Benfenati F. Valente P, et al. Among authors: fadda m. Cell Rep. 2016 Apr 5;15(1):117-131. doi: 10.1016/j.celrep.2016.03.005. Epub 2016 Mar 24. Cell Rep. 2016. PMID: 27052163 Free PMC article.
Constitutive Inactivation of the PRRT2 Gene Alters Short-Term Synaptic Plasticity and Promotes Network Hyperexcitability in Hippocampal Neurons.
Valente P, Romei A, Fadda M, Sterlini B, Lonardoni D, Forte N, Fruscione F, Castroflorio E, Michetti C, Giansante G, Valtorta F, Tsai JW, Zara F, Nieus T, Corradi A, Fassio A, Baldelli P, Benfenati F. Valente P, et al. Among authors: fadda m. Cereb Cortex. 2019 May 1;29(5):2010-2033. doi: 10.1093/cercor/bhy079. Cereb Cortex. 2019. PMID: 29912316
PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity.
Fruscione F, Valente P, Sterlini B, Romei A, Baldassari S, Fadda M, Prestigio C, Giansante G, Sartorelli J, Rossi P, Rubio A, Gambardella A, Nieus T, Broccoli V, Fassio A, Baldelli P, Corradi A, Zara F, Benfenati F. Fruscione F, et al. Among authors: fadda m. Brain. 2018 Apr 1;141(4):1000-1016. doi: 10.1093/brain/awy051. Brain. 2018. PMID: 29554219 Free PMC article.
SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth.
Corradi A, Fadda M, Piton A, Patry L, Marte A, Rossi P, Cadieux-Dion M, Gauthier J, Lapointe L, Mottron L, Valtorta F, Rouleau GA, Fassio A, Benfenati F, Cossette P. Corradi A, et al. Among authors: fadda m. Hum Mol Genet. 2014 Jan 1;23(1):90-103. doi: 10.1093/hmg/ddt401. Epub 2013 Aug 15. Hum Mol Genet. 2014. PMID: 23956174 Free PMC article.
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.
Fassio A, Patry L, Congia S, Onofri F, Piton A, Gauthier J, Pozzi D, Messa M, Defranchi E, Fadda M, Corradi A, Baldelli P, Lapointe L, St-Onge J, Meloche C, Mottron L, Valtorta F, Khoa Nguyen D, Rouleau GA, Benfenati F, Cossette P. Fassio A, et al. Among authors: fadda m. Hum Mol Genet. 2011 Jun 15;20(12):2297-307. doi: 10.1093/hmg/ddr122. Epub 2011 Mar 25. Hum Mol Genet. 2011. PMID: 21441247
281 results