Dr. Geeske Van Woerden and her lab will research the best time to correct certain symptoms of AS when Ube3a is restored in a mouse model. Overall, the research team attempts to answer the question: can certain behaviors or symptoms […]
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$200,000 Based on previous research conducted at Dr. Mark Zylka’s lab and Dr. Ben Philpot’s lab, Dr. Zylka’s team will continue this work with the goal of unsilencing the paternal copy of Ube3a using new methods. Past research has shown […]
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$199,650 The UBE3A protein has two variants called isoforms. This information has been known for some time, but only recently, research discovered that these two isoforms of UBE3A travel to different locations in the brain. The research team is applying this new knowledge to […]
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$200,000 Imagine a traffic light at a busy intersection: when working correctly, the traffic light directs vehicles where they need to go and traffic flows properly. In the brain, the “traffic lights” control the signaling at synapses, which are the […]
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Summary of Dr. Gray study Dr. Steven Gray is applying his years of experience using gene therapy as a treatment for Giant Axonal Neuropathy (GAN), Rett syndrome, and several other neurological disorders to Angelman syndrome. Dr. Gray has been a […]
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Summary of Dr. Philpot Study Dr. Ben Philpot is examining three new potential drugs for their ability to unsilence the paternal copy of Ube3a. These drugs were identified using the same approach Dr. Philpot previously used to identify topoisomerase inhibitors […]
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This research project is jointly funded by the ASF and Dup15q Alliance. 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 […]
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