Detection of autism spectrum disorder-related pathogenic trio variants by a novel structure-based approach

Detection of autism spectrum disorder-related pathogenic trio variants by a novel structure-based approach

Abstract Background Glutamatergic synapse dysfunction is believed to underlie the development of Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) in many individuals. However, identification of genetic markers that contribute to synaptic dysfunction in these individuals is notoriously...

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Bibliographic Details
Main Authors: Sadhna Rao, Anastasiia Sadybekov, David C. DeWitt, Joanna Lipka, Vsevolod Katritch, Bruce E. Herring
Format: Article
Language:English
Published: BMC 2024-04-01
Series:Molecular Autism
Subjects:
Glutamatergic neurotransmission
Autism spectrum disorders
Synaptic dysfunction
Missense mutations
TRIO-related disorders
Mutation modeling
Online Access:https://doi.org/10.1186/s13229-024-00590-9

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