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A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration

The composition of the neuronal cell surface dictates synaptic plasticity and thereby cognitive development. This remodeling of the synapses is governed by the endocytic network which internalize transmembrane proteins, then sort them back to the cell surface or carry them to the lysosome for degrad...

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Detalhes bibliográficos
Publicado no:Neurogenetics
Main Authors: Damseh, Nadirah, Danson, Chris M., Al-Ashhab, Motee, Abu-Libdeh, Bassam, Gallon, Matthew, Sharma, Kanchan, Yaacov, Barak, Coulthard, Elizabeth, Caldwell, Maeve A., Edvardson, Simon, Cullen, Peter J., Elpeleg, Orly
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4962907/
https://ncbi.nlm.nih.gov/pubmed/25894286
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-015-0446-0
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