Ontology highlight
ABSTRACT:
SUBMITTER: Lammert DB
PROVIDER: S-EPMC6091860 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
Lammert Dawn B DB Middleton Frank A FA Pan Jen J Olson Eric C EC Howell Brian W BW
Journal of neurochemistry 20170518 1
Despite the recent identification of over 40 missense heterozygous Reelin gene (RELN) mutations in autism spectrum disorder (ASD), none of these has been functionally characterized. Reelin is an integral signaling ligand for proper brain development and post-natal synapse function - properties likely disrupted in ASD patients. We find that the R2290C mutation, which arose de novo in an affected ASD proband, and other analogous mutations in arginine-amino acid-arginine domains reduce protein secr ...[more]