$75,000
It is known that UBE3A is important inside brain neurons especially at their membrane surfaces where the synapse facilitates communication between neurons. It has also been recognized that other cellular problems develop when UBE3A is defective and this laboratory identified problems in a protein synthesis and transport system called the Golgi apparatus. Inside the cells of Angelman mice, the Golgi are abnormal and swollen and the work of these investigators provided new insight into UBE3A’s relationship to other proteins in the cell.
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.