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Search results for: Detection of autism spectrum disorder-related pathogenic trio variants by a novel structure-based approach.

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#38566250   2024/04/03 To Up

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

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 difficult. Based on genomic analysis, structural modeling, and functional data, we recently established the involvement of the TRIO-RAC1 pathway in ASD and ID. Furthermore, we identified a pathological de novo missense mutation hotspot in TRIO's GEF1 domain. ASD/ID-related missense mutations within this domain compromise glutamatergic synapse function and likely contribute to the development of ASD/ID. The number of ASD/ID cases with mutations identified within TRIO's GEF1 domain is increasing. However, tools for accurately predicting whether such mutations are detrimental to protein function are lacking.
Sadhna Rao, Anastasiia Sadybekov, David C DeWitt, Joanna Lipka, Vsevolod Katritch, Bruce E Herring

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