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: | , , , , , , |
|---|---|
| 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 |
| Author Notes: | Maila Giannandrea, Fabrizia C. Guarnieri, Niels H. Gehring, Elena Monzani, Fabio Benfenati, Andreas E. Kulozik, Flavia Valtorta |
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