GABA(A) Receptor α1 Subunit Mutation A322D Associated with Autosomal Dominant Juvenile Myoclonic Epilepsy Reduces the Expression and Alters the Composition of Wild Type GABA(A) Receptors

A GABA(A) receptor (GABA(A)R) α1 subunit mutation, A322D (AD), causes an autosomal dominant form of juvenile myoclonic epilepsy (ADJME). Previous studies demonstrated that the mutation caused α1(AD) subunit misfolding and rapid degradation, reducing its total and surface expression substantially. He...

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Detalhes bibliográficos
Main Authors: Ding, Li, Feng, Hua-Jun, Macdonald, Robert L., Botzolakis, Emanuel J., Hu, Ningning, Gallagher, Martin J.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2010
Assuntos:
Molecular Bases of Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2924069/
https://ncbi.nlm.nih.gov/pubmed/20551311
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M110.142299
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