Identification of Therapeutic Targets in Autism Spectrum Disorder through CHD8-Notch Pathway Interaction Analysis.

ABSTRACT:

Background

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with a rising global prevalence. Mutations in the CHD8 gene have been implicated in ASD, yet the underlying molecular mechanisms remain insufficiently understood.

Methods

We analyzed transcriptomic data from the CHD8A and CHD8B allelic deletion sample dataset GSE236993 to identify differentially expressed genes (DEGs). We intersected these DEGs with genes related to the Notch signaling pathway and performed functional enrichment analyses, including Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment, as well as protein-protein interaction (PPI) analyses, to identify key genes. These key genes were validated using the CHD8-deficient sample dataset GSE85417,

SUBMITTER: Zhang H 

PROVIDER: S-EPMC12173350 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature