Characterization of a de novo GABBR2 variant linked to autism spectrum disorder

Characterization of a de novo GABBR2 variant linked to autism spectrum disorder

GABAB receptors (GABABRs) are G protein-coupled receptors for γ-aminobutyric acid (GABA), the major inhibitory neurotransmitter in the central nervous system. Pathogenic variants in the GABBR1 and GABBR2 genes, which encode the GB1 and GB2 subunits of GABABRs, are implicated in several neurological...

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Bibliographic Details
Main Authors: Noa Bielopolski, Michal Stawarski, Ilana Roitman, Karen Fridman, Shane Wald-Altman, Simon Früh, Bernhard Bettler, Andreea Nissenkorn
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-11-01
Series:Frontiers in Molecular Neuroscience
Subjects:
GABAB receptor
autism
molecular dynamics
VUS classification
functional assay
Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2023.1267343/full

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https://www.frontiersin.org/articles/10.3389/fnmol.2023.1267343/full

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