$95,000
ASF foundation was proud to sponsor this research by Nobel Laureate Aaron Ciechanover who has been instrumental in characterizing the ubiquitin protein degradation system, a fundamental component of how neurons degrade or adjust proteins in order to function normally. This research focused on the DNA structure and surrounding protein regions of DNA and UBE3A in an attempt to understand how the gene is regulated and what might serve to turn on or repress activity of the gene. Dr. Ciechanover found that indeed Ring1B is a target of UBE3A. How the disruption of Ring1B ubiquitination leads to symptoms in AS is still poorly understood and more work does need to be done in this area.
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.