Article

Autism-associated MDGA1 missense mutations impair distinct facets of central nervous system development

2025-06-09

Abstract excerpt

MDGA1 reportedly suppresses GABAergic synaptic inhibition, but it is unclear whether and how MDGA1 dysfunction causes neurodevelopmental disorders. Here, we describe two patients with autism spectrum disorders (ASDs) each carrying pairs of novel missense mutations in MDGA1 , Val116Met/Ala688Val and Tyr635Cys/Glu756Gln. The Tyr635Cys/Glu756Gln substitution (but not the Val116Met/Ala688V substitution) disrupts the t...

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Literature Corpus work: 7d1bad5f-d9b9-5baa-84ef-60e441b80fc4
DOI: 10.1101/2025.06.07.25328825

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