Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications.

ABSTRACT:

Background

Autism spectrum disorder (ASD) is a neurodevelopmental condition, which is characterized by clinical heterogeneity and high heritability. Core symptoms of ASD include deficits in social communication and interaction, as well as restricted, repetitive patterns of behavior, interests, or activities. Many genes have been identified that are associated with an increased risk for ASD. Proteins encoded by these ASD risk genes are often involved in processes related to fetal brain development, chromatin modification and regulation of gene expression in general, as well as the structural and functional integrity of synapses. Genes of the SH3 and multiple ankyrin repeat domains (SHANK) family encode crucial scaffolding proteins (SHANK1-3) of excitatory synapses and other macromol

SUBMITTER: Delling JP 

PROVIDER: S-EPMC8594088 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature