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Structure-Function Analysis of the GlyR α2 Subunit Autism Mutation p.R323L Reveals a Gain-of-Function

Glycine receptors (GlyRs) containing the α2 subunit regulate cortical interneuron migration. Disruption of the GlyR α2 subunit gene (Glra2) in mice leads to disrupted dorsal cortical progenitor homeostasis, leading to a depletion of projection neurons and moderate microcephaly in newborn mice. In hu...

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Detalles Bibliográficos
Autores principales: Zhang, Yan, Ho, Thi Nhu Thao, Harvey, Robert J., Lynch, Joseph W., Keramidas, Angelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440463/
https://www.ncbi.nlm.nih.gov/pubmed/28588452
http://dx.doi.org/10.3389/fnmol.2017.00158