$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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$200,000 (2 years) Oligonucleotides are short, single-stranded DNA or RNA molecules. Previous studies have demonstrated that the antisense RNA of Ube3a (Ube3a-ATS) silences the paternal Ube3a gene. The investigators propose using antisense oligonucleotides (ASOs) to specifically target Ube3a-ATS, which is […]
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$200,000 (2 years) This research study builds upon previous ASF-funded research conducted by Dr. Art Beaudet at Baylor College of Medicine and will determine whether a drug that increases UBE3A expression can restore normal function to human AS brain cells. […]
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