Ontology highlight
ABSTRACT:
SUBMITTER: Wang X
PROVIDER: S-EPMC3131048 | biostudies-literature | 2011 Aug
REPOSITORIES: biostudies-literature
Wang Xiaoming X McCoy Portia A PA Rodriguiz Ramona M RM Pan Yanzhen Y Je H Shawn HS Roberts Adam C AC Kim Caroline J CJ Berrios Janet J Colvin Jennifer S JS Bousquet-Moore Danielle D Lorenzo Isabel I Wu Gangyi G Weinberg Richard J RJ Ehlers Michael D MD Philpot Benjamin D BD Beaudet Arthur L AL Wetsel William C WC Jiang Yong-Hui YH
Human molecular genetics 20110510 15
SHANK3 is a synaptic scaffolding protein enriched in the postsynaptic density (PSD) of excitatory synapses. Small microdeletions and point mutations in SHANK3 have been identified in a small subgroup of individuals with autism spectrum disorder (ASD) and intellectual disability. SHANK3 also plays a key role in the chromosome 22q13.3 microdeletion syndrome (Phelan-McDermid syndrome), which includes ASD and cognitive dysfunction as major clinical features. To evaluate the role of Shank3 in vivo, w ...[more]