Second occurrence of the PAK3-R67C variation and multiscale analysis of the corresponding knock-in mice reveal novel phenotypic features and functional synaptic defects.

Abstract excerpt

Variations in PAK3, a gene located on the X chromosome, are known to contribute to intellectual disability (ID) and are associated with a broad clinical spectrum. The correlation between genotype and phenotype in PAK3-related disorders remains incompletely understood. In this study, we focused on the PAK3-R67C variant, the most amino-terminal variation identified to date, which was initially associated with a...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Gene Knock-In Techniques
• Share to Hippocampus