$200,000 Motor deficits are common and debilitating, but not well-understood, symptoms of Angelman syndrome. AS results from the loss of the UBE3A gene. The development and study of animal models of AS that lack the same gene has advanced our […]
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$199,100 Researchers will investigate in more detail the requirements of ASO-mediated rescue of behavioral phenotypes of an AS mouse model. The most important questions they will attempt to address are: How much ASO and how much UBE3A protein is really […]
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$100,000 Gastrointestinal or stomach issues are common in Angelman syndrome. They may lessen the quality of life. However, the reasons for these issues are not known. For example, we do not know if the syndrome leads to these issues. They […]
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$103,000 As individuals with Angelman syndrome get older, there is often an increase in the frequency of abnormal movements, including nonepileptic myoclonus. The goal of this study is to better characterize these abnormal movements to help us identify new ways […]
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$150,000 UBE3A is a protein that labels other proteins for disposal. It is thought that accumulation of proteins that would normally be “trashed” causes the deficits in AS. Using stem cells generated from Angelman syndrome patients or stem cells genetically […]
Read more $198,000 Existing mouse models have a deletion of only UBE3A, which models a UBE3A mutation. This project will develop two new mouse models to determine how the other genes missing in the AS deletion (as opposed to UBE3A mutation) contribute […]
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$138,238 As we move towards promising clinical trials for AS, a major challenge is deciding how to measure improvement after treatment. This study will apply mathematical approaches to data from new and existing behavioral tests using the Angelman syndrome mouse […]
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Angelman syndrome is caused by deletions or mutations of the maternally‐inherited gene copy of UBE3A. The paternally‐inherited gene copy of UBE3A lies dormant, thus loss of the maternal UBE3A gene copy leads to a near complete loss of UBE3A protein […]
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