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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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Main Authors: | , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
2014
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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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