Ben Distel, Ph.D. Academic Medical Center, Amsterdam, Netherlands
2014
Identification and characterization of novel targets and activators of E6AP
$199,705 (2 years)
This research project aims to identify and characterize proteins in the brain that are affected by the absence of UBE3A. These proteins serve an unknown purpose in brain development. This research will help provide insight into how AS symptoms develop by determining how these proteins’ functions are impacted by the absence of UBE3A. The research team will also explore ways to enhance UBE3A activity. This may help to boost the activity of the dormant, paternal copy of UBE3A and reduce AS symptoms.