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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: zara f. 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.
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri Tonelli D, de Falco FA, Striano P, Dagna Bricarelli F, Minetti C, Benfenati F, Fassio A, Zara F. Falace A, et al. Among authors: zara f. Am J Hum Genet. 2010 Sep 10;87(3):365-70. doi: 10.1016/j.ajhg.2010.07.020. Epub 2010 Aug 19. Am J Hum Genet. 2010. PMID: 20727515 Free PMC article.
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.
Vanni N, Fruscione F, Ferlazzo E, Striano P, Robbiano A, Traverso M, Sander T, Falace A, Gazzerro E, Bramanti P, Bielawski J, Fassio A, Minetti C, Genton P, Zara F. Vanni N, et al. Among authors: zara f. Ann Neurol. 2014 Aug;76(2):206-12. doi: 10.1002/ana.24170. Epub 2014 May 20. Ann Neurol. 2014. PMID: 24782409
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: zara f. Brain. 2018 Apr 1;141(4):1000-1016. doi: 10.1093/brain/awy051. Brain. 2018. PMID: 29554219 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: zara f. Cereb Cortex. 2019 May 1;29(5):2010-2033. doi: 10.1093/cercor/bhy079. Cereb Cortex. 2019. PMID: 29912316
511 results