Approximately 90% of males diagnosed with Christianson syndrome (CS) meet research criteria for a clinical diagnosis of Angelman syndrome (AS). CS is caused by loss-of-function (LoF) mutations in the X-linked, endosomal Na+/H+ exchanger 6 (NHE6) and was originally termed “X-linked […]
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$80,000 The mouse model provides an ideal way to evaluate therapeutic attempts to increase UBE3A function on the otherwise silenced paternally-derived mouse chromosome. Using novel genetic engineering methods, Dr. Beaudet and his lab were able to develop a engineered mouse […]
Read more$110,000 The ASF Joseph Wagstaff Postdoctoral Research Fellowship was granted to its first recipient. Dr. King will do his postdoctoral research on a new drug UNCilencer1, which turns on the silenced paternal UBE3A gene in mouse neurons. UNCilencer1 is a […]
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A potentially valuable approach to understand UBE3A function is the characterization of non-truncating missense variants that change one or a few amino acids in the protein. There are hundreds of UBE3A variants, and their functional significance is virtually unknown. The […]
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$62,903 One of the unique aspects of the brain problem in AS is that only the UBE3A on the maternally inherited number 15 chromosome is disrupted. The other UBE3A, located on the paternally derived chromosome, is silenced by a control […]
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$25,000 UBE3A, the gene when disrupted causes AS, is present in all animal and insect species, thus indicating how important it is for normal neuronal function. These investigators were able to identify the equivalent of the UBE3A gene in Drosophila, […]
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$14,145 ASF has been aggressive in funding a number of investigators, as well as multiple centers, involved in providing dietary supplements aimed at augmenting the biological availability of methyl groups (see Beaudet study, in 2000). This project helped facilitate clinical […]
Read more$45,547 Dr. Wagstaff was one of the crucial investigators who discovered that UBE3A disruption was the cause of AS. With funds from this and other projects he was able to develop a mouse model for AS and this important development […]
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