Researchers at the UNC School of Medicine have identified a small molecule that could potentially treat Angelman syndrome, a genetic disorder caused by mutations in the UBE3A gene. This small molecule, (S)-PHA533533, was found to activate the dormant paternal allele of UBE3A in neurons, leading to proper protein and cell function. The compound has shown promise in animal models and human-derived neural cells, with excellent bioavailability in the brain. While more research is needed to optimize the drug’s properties and safety, this discovery marks a significant milestone in developing a safe and effective treatment for Angelman syndrome.
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Researchers identify molecule as potential treatment for Angelman syndrome
