$200,000 – 2-years While it has been appreciated for some time that loss-of-function mutations in the UBE3A gene are the primary causative factor for Angelman syndrome (AS), the precise mechanisms by which the loss of Ube3A in the nervous system […]
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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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$200,000 – 2-years This grant represents a continuation of funding for this investigator’s laboratory which was instrumental in identifying that a class of topoisomerase inhibitors can unsilence the paternal UBE3A gene. The investigator now plans to extend this work by […]
Read more$25,000 – RDCRN Training Grant This investigator will use selective phenotype study techniques to study children 3-10 years of age with AS, Rett syndrome ( RTT), and MeCP2 duplications, as genetic models of autism spectrum disorder (ASD). It is hoped that 15 individuals […]
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$200,000 (2 years) Angelman syndrome (AS) is typically caused by genomic deletions that encompass the maternal copy of UBE3A. In some patients with AS, the UBE3A protein is present but with a single amino acid change known as a missense […]
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$81,631 The principal objective of these studies is to determine if acamprosate, a drug that is approved by the Food and Drug Administration for the treatment of alcoholism in adults and works to correct imbalances in excitatory and inhibitory signaling […]
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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 […]
Read more Ben Philpot, Ph.D. – University of North Carolina, Chapel Hill Ype Elgersma, Ph.D. – Erasmus Medical Center, Rotterdam, Netherlands $400,000 (2 years – $200,000 per institute) A previously developed mouse model for Angelman syndrome (AS) enables the maternal copy of […]
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