Articles with "r323l" as a keyword



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

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Published in 2017 at "Frontiers in Molecular Neuroscience"

DOI: 10.3389/fnmol.2017.00158

Abstract: 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… read more here.

Keywords: r323l; autism; glyr subunit; glyr ... See more keywords