ReviewFrontiers in molecular neuroscience2025
Endoplasmic reticulum protein retention and disturbed proteostasis is a common pathology for a subset of autism: evidence from mutations in GABA
Review in Frontiers in molecular neuroscience, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Autism is a common childhood disorder, often comorbid with epilepsy. Both autism and epilepsy are highly heterogeneous in terms of disease etiology and frequently co-occur with other neuropsychiatric phenotypes. Advances in genetic sequencing technologies have significantly improved our understanding of the biological pathways involved in these disorders, particularly in genetic epilepsy (GE). One critical pathway involves gamma-aminobutyric acid (GABA), a key neurotrophic signal during early brain development. GABA plays a central role in maintaining neural excitatory-inhibitory balance, and its dysfunction has been implicated in both autism and epilepsy. GABA acts through its receptors and transporters to regulate neuronal signaling, and disruptions in this system can lead to neural circuit abnormalities. Recent studies have identified that mutations in GABA
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