$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 […]
Read more
$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 […]
Read more
$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 […]
Read more $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 […]
Read more
$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 […]
Read more
$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 […]
Read more
$199,705 (2 years) This research project aims to identify and characterize proteins in the brain that are affected by the absence of UBE3A. These proteins serve an unknown purpose in brain development. This research will help provide insight into how […]
Read more