Researchers identify molecule as potential treatment for Angelman syndrome

Neurons with a fluorescent reporter for paternal UBE3A gene activity show only a background low fluorescent glow when treated with a vehicle control, but show a bright fluorescent glow when treated with (S)-PHA533533, indicating that the small molecule potently activated the dormant paternal allele of UBE3A. Credit: Vihma et. al 2024 Angelman syndrome is a rare genetic disorder caused by mutations in the maternally-inherited UBE3A gene and characterized by poor muscle control, limited speech, epilepsy, and intellectual disabilities. Though there isn’t a cure for the condition, new research at the Read More

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