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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| Auteurs principaux: | , , , , , , |
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| Format: | article |
| Langue: | EN |
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Public Library of Science (PLoS)
2013
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| Sujets: | |
| Accès en ligne: | https://doaj.org/article/762f4b1c76494f899a150edf23f724ff |
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