Autism patient derived SHANK2BY29X mutation affects ALDH1A1 negative dopamine neuron development

ABSTRACT: Autism spectrum disorder (ASD) includes a series of neurodevelopmental conditions. Different mutations on a single ASD gene contribute to heterogeneous disease phenotypes, possibly due to functional diversity of generated isoforms. Increasing evidence indicates such phenomenon in SHANK2, a causative gene in ASD; however, there is a scarcity of tools for studying endogenous SHANK2 proteins in an isoform-specific manner. Here we reported a patient-derived mutation on SHANK2, hitting only the SHANK2B transcript variant (NM_133266.5), hereby SHANK2BY29X.

ORGANISM(S): Mus musculus Homo sapiens

PROVIDER: GSE256210 | GEO | 2024/05/01

REPOSITORIES: GEO