Angelman Syndrome Research Funded in 2019
Role of UBE3A-HERC2 Complex in Angelman Syndrome: 3D Structure and Quantitative Interactomics
Gilles Trave, PhD – European Center of Research and Biology in Illkirch, France
This research project is jointly funded by the ASF and Dup15q Alliance.
Summary of Dr. Trave’s Study
UBE3A is a protein that tags other proteins to be disposed of in the cell. It interacts with another protein, HERC2, which also has a similar function. Individuals with both copies of HERC2 deleted have a neurodevelopmental disorder with features similar to Angelman syndrome.
Dr. Trave will study the interaction between UBE3A and HERC2 to regulate important genes for neurodevelopment and better understand how UBE3A and HERC2 work together.
This study aims to:
- Create the first 3D structure of full-length UBE3A with and without HERC2
- Determine the other proteins that interact with the UBE3A/HERC2 complex
This should help future studies better understand how UBE3A works with HERC2 to impact brain development.
The Prevalence and Form of CVI in Angelman Syndrome
Karen Erickson, PhD – UNC Chapel Hill, North Carolina
Summary of Dr. Erickson’s Study
There is good reason to believe that many individuals with AS have cortical visual impairment (CVI). This is a specific type of vision impairment that may affect balance, walking, communication and behavior.
This study, will accomplish three things:
- Estimate the number of individuals with AS that have CVI
- Assess the severity of CVI in individuals with AS
- Determine whether CVI has an effect on communication in children with AS
Dr. Erickson believes that in identifying and understanding CVI in individuals with AS, it will allow for early intervention, which may improve communication and behavior outcomes.