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Three Epilepsy-Associated GABRG2 Missense Mutations at the γ+/β− interface Disrupt GABA(A) Receptor Assembly and trafficking by Similar MeChanisms but to Different Extents

We compared the effects of three missense mutations in the GABA(A) receptor γ2 subunit on GABA(A) receptor assembly, trafficking and function in HEK293T cells cotransfected with α1, β2, and wildtype or mutant γ2 subunits. The mutations R82Q and P83S were identified in families with genetic epilepsy...

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Detalhes bibliográficos
Main Authors: Huang, Xuan, Hernandez, Ciria C., Hu, Ningning, Macdonald, Robert L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4169075/
https://ncbi.nlm.nih.gov/pubmed/24798517
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2014.04.015
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