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Research
Research

2014

Identification and characterization of novel targets and activators of E6AP

Protein
UBE3A
Ubiquitination
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$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.

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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.

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