Determination of the function of the Angelman Syndrome UBE3A Ubiquitin Ligase

Angelman Syndrome (Happy Puppet Syndrome) is characterized by mental retardation and abnormal movement and balance disorders. Most cases are caused by mutation or loss of a single gene, UBE3A, which encodes a protein ubiquitin ligase. At present very little is known about the function of this protein or how its loss results in the development of the syndrome. In this project we will investigate the molecular mechanism of action of UBE3A, with a view to understanding how its loss may cause the disease. This information will, in turn, help us to identify possible routes for therapeutic intervention. One such approach might be to deliver active UBE3A protein back to UBE3A-deficient cells, the efficacy of which will also be investigated using appropriate model cell systems in the laboratory.