Yong-Jui Jiang, MD, PhD Duke University, Durham, NC
Novel Ube3a Isoform and Angelman Syndrome
At the DNA level, UBE3A represents a single region of DNA molecules but when UBE3A makes its proteins multiple different proteins appear and these are termed isoforms. In this project, Dr. Jiang is evaluating some of the shorter protein isoforms that have previously been less studied than the longer ones. It is hoped that an analysis of these isoforms in the AS mouse model will lead to additional understanding about the repertoire of cellular mechanisms that UBE3A can direct.