Evidence that the beta-catenin nuclear translocation assay allows for measuring presenilin 1 dysfunction.

Background Mutations in the presenilin (PSEN) genes are responsible for the majority of early-onset Alzheimer disease (AD) cases. PSEN1 is a component of a high molecular weight, endoplasmic reticulum, membrane-bound protein complex, including β-catenin. Pathogenic PSEN1 mutations were demonstrated to have an effect on β-catenin and glycogen synthase kinase-3β(GSK-3β), two members of the wingless Wnt pathway. The nuclear translocation and the stability of β-catenin, and the interaction between GSK3β and PSEN1 were influenced.