Nonsense-mediated mRNA decay and loss-of-function of the protein underlie the X-linked epilepsy associated with the W356× mutation in synapsin I.

Synapsins are a family of neuronal phosphoproteins associated with the cytosolic surface of synaptic vesicles. Experimental evidence suggests a role for synapsins in synaptic vesicle clustering and recycling at the presynaptic terminal, as well as in neuronal development and synaptogenesis. Synapsin...

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Autores principales: Maila Giannandrea, Fabrizia C Guarnieri, Niels H Gehring, Elena Monzani, Fabio Benfenati, Andreas E Kulozik, Flavia Valtorta
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2013
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Acceso en línea:https://doaj.org/article/762f4b1c76494f899a150edf23f724ff
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