This project funds work on a special type of mouse model in which production of the UBE3A protein can be identified by use of a yellow fluorescent tag. This then enables the tracking and localizing of certain UBE3A proteins within Angelman mice neurons. UBE3A produces several types of proteins, called isoforms, and Dr. Dindot’s lab has identified how specific isoforms localize in the nucleus, cytoplasm or in the synapse region. This research is important in understanding where UBE3A proteins operate in all compartments of the cell and it helps define areas for protein interactions which may lead to development of new therapeutic strategies.
The mission of Angelman Syndrome Foundation is to advance the awareness and treatment of Angelman syndrome through education and information, research and support for individuals with Angelman syndrome, their families and other concerned parties. We exist to give all of them a reason to smile, with the ultimate goal of finding a cure.