Nonsense-mediated mRNA decay and loss-of-function of the protein underlie the X-linked epilepsy associated with the W356 x 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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Main Authors: Giannandrea, Maila (Author) , Guarnieri, Fabrizia C. (Author) , Gehring, Niels H. (Author) , Monzani, Elena (Author) , Benfenati, Fabio (Author) , Kulozik, Andreas (Author) , Valtorta, Flavia (Author)
Format: Article (Journal)
Language:English
Published: June 20, 2013
In: PLOS ONE
Year: 2013, Volume: 8, Issue: 6
ISSN:1932-6203
DOI:10.1371/journal.pone.0067724
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1371/journal.pone.0067724
Verlag, lizenzpflichtig, Volltext: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0067724
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Author Notes:Maila Giannandrea, Fabrizia C. Guarnieri, Niels H. Gehring, Elena Monzani, Fabio Benfenati, Andreas E. Kulozik, Flavia Valtorta
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