‘Gain-of-function’ mutation spawns autism traits
نویسندگان
چکیده
منابع مشابه
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 humans, rare variants in GLRA2, which is located on the X chromosome, are associated with autism sp...
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ژورنال
عنوان ژورنال: Spectrum
سال: 2023
ISSN: ['2561-7842']
DOI: https://doi.org/10.53053/jymi5855