UBE3A Mutation Prevents Enzyme From Binding to Proteasome, Contributing to Angelman Symptoms, Study Finds

Researchers from Harvard Medical School have discovered that a genetic mutation in the UBE3A gene found in Angelman syndrome patients prevents an enzyme called ubiquitin ligase E3A from interacting with one of its major binding partners, the proteasome, contributing to disease symptoms. The study, “Angelman syndrome-associated point mutations…