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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Detalles Bibliográficos
Autores principales: Giannandrea, Maila, Guarnieri, Fabrizia C., Gehring, Niels H., Monzani, Elena, Benfenati, Fabio, Kulozik, Andreas E., Valtorta, Flavia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3688603/
https://www.ncbi.nlm.nih.gov/pubmed/23818987
http://dx.doi.org/10.1371/journal.pone.0067724

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3688603/
https://www.ncbi.nlm.nih.gov/pubmed/23818987
http://dx.doi.org/10.1371/journal.pone.0067724

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