$50,000 The gene disrupted in AS, UBE3A, is unique because its action is controlled by a remote DNA region that is called the imprinting center(IC). In the normal brain, this IC turns off the UBE3A that the father contributed (on […]
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$30,000 This study evaluated individuals with AS to learn more about contractility of the stomach as measured by surface electrical recordings from the abdominal area. The study provides insight into how the stomach contracts before, during and after ingestion of […]
Read more$82,255 This grant continued ASF funding to one of the premier AS scientists, Dr. Joe Wagstaff, and his laboratory. The aim of this project was a bold attempt to create therapeutic effects in the mouse model by genetically engineering a […]
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$98,450 ASF has supported on many fronts research strategies in an attempt to increase the expression of UBE3A in the AS brain. As discussed for previous grants, it is known that in each nerve cell a UBE3A gene is repressed […]
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$100,000 Angelman syndrome is caused by deficiency of UBE3A. Unlike ordinary autosomal genes, it is subject to genomic imprinting with expression only from maternal chromosome. It is unknown how such imprinted status is established, since no differential DNA methylation was […]
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