Targeting of δ-catenin to postsynaptic sites through interaction with the Shank3 N-terminus.

ABSTRACT:

Background

Neurodevelopmental disorders such as autism spectrum disorder (ASD) may be caused by alterations in genes encoding proteins that are involved in synapse formation and function. This includes scaffold proteins such as Shank3, and synaptic adhesion proteins such as Neurexins or Neuroligins. An important question is whether the products of individual risk genes cooperate functionally (exemplified in the interaction of Neurexin with Neuroligin isoforms). This might suggest a common pathway in pathogenesis. For the SHANK3 gene, heterozygous loss of function, as well as missense mutations have been observed in ASD cases. Several missense mutations affect the N-terminal part of Shank3 which contains the highly conserved Shank/ProSAP N-terminal (SPN) and Ankyrin repeat (Ank) dom

SUBMITTER: Hassani Nia F 

PROVIDER: S-EPMC7592556 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature