Article
Inhibition of GSK3α,β rescues cognitive phenotypes in a preclinical mouse model of CTNNB1 syndrome.
EMBO molecular medicine - 1 Sept 2024
Alexander Jonathan M, Vazquez-Ramirez Leeanne, Lin Crystal, Antonoudiou Pantelis, Maguire Jamie, Wagner Florence, Jacob Michele H
Abstract excerpt
CTNNB1 syndrome is a rare monogenetic disorder caused by CTNNB1 de novo pathogenic heterozygous loss-of-function variants that result in cognitive and motor disabilities. Treatment is currently lacking; our study addresses this critical need. CTNNB1 encodes β-catenin which is essential for normal brain function via its dual roles in cadherin-based synaptic adhesion complexes and canonical Wnt signal transduction....
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