Novel Target of Enzyme Underlying Angelman Syndrome Uncovered

A potential target of the UBE3A enzyme, the protein underlying Angelman syndrome, has been identified in a recent study. The protein, called DNA damage-inducible protein 1 homologue 1 (DDI1) is expressed in the developing brain of mouse models and is a target of the UBE3A enzyme in human…

Affects of Faulty UBE3A Mutations Point to Potential Therapeutic Strategies for Angelman

More than 90 percent of Angelman syndrome cases are caused by genetic abnormalities affecting the E3 ubiquitin ligase (UBE3A) gene. In the study “A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders,” a team at Georgia State University reviewed what is known about this enzyme…

New Method May Shed Light on How UBE3A Mutations Cause Angelman Syndrome

Researchers have developed a method to study the enzymes involved in the disposal of proteins that are faulty or no longer needed by cells. The research will help scientists investigate the mechanism of diseases where the disposal system is functioning badly, such as it does in Angelman syndrome, which may…

Mutation Linked to Angelman Syndrome Activates Key Molecular Pathway in Brain Development, Study Finds

A mutation in the UBE3A gene, whose loss causes Angelman syndrome, activates a molecular pathway that is critical to brain development, new research shows. The study, “The autism-linked UBE3A T485A mutant E3 ubiquitin ligase activates the Wnt/β-catenin pathway by inhibiting the proteasome,” appeared in the…