$92,144 – 1-year With previous support from the ASF, Dr. Elgersma engineered a UBE3A- inducible mouse in which the UBE3A gene (responsible for causing AS) is non-functional when the mouse is born. However, by a medication injection at any desired […]
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$170,202 (2 years) Previous research discoveries have indicated that one of the UBE3A target proteins, Arc (activity-regulated cytoskeleton-associated protein) plays a critical role in regulating synaptic plasticity and long-term information storage in the brain. By understanding how Arc is involved […]
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$200,000 (2 years) Previous work on a major synaptic protein, Calcium/calmodulin-dependent protein Kinase II (CaMKII), suggests that it has a central role in producing the developmental deficits in Angelman syndrome (AS). This research seeks to better understand how CaMKII activity […]
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$84,011 In this study, Dr. Dindot plans to investigate whether gene therapy in the AS mouse (using lentiviruses as the vector) is a viable therapeutic option, and thus a future possibility for individuals with AS. He will also examine the […]
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$200,000 – 2-years Dr. Zylka’s lab will expand on the work previously funded by ASF that led to the identification of a family of topoisomerase inhibitors that can unsilence the paternal UBE3A gene. In order to learn more about this […]
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$120,000 – 2-years The discovery of genomic reprogramming of human skin cells into induced pluripotent stem cells (iPSCs) provides a novel way to model human diseases with complex genetics. By reprogramming skin cells obtained from patient samples, cell lines can […]
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$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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