Hanna Vihma

Jul 8, 2024 | nature.com | Hanna Vihma |Audrey Smith |Rachel Gilmore |Justin Cotney |Jon Collins |Hyeong-Min Lee | +2 more

AbstractDeletion of the maternal UBE3A allele causes Angelman syndrome (AS); because paternal UBE3A is epigenetically silenced by a long non-coding antisense (UBE3A-ATS) in neurons, this nearly eliminates UBE3A protein in the brain. Reactivating paternal UBE3A holds promise for treating AS. We previously showed topoisomerase inhibitors can reactivate paternal UBE3A, but their therapeutic challenges prompted our search for small molecule unsilencers with a different mechanism of action.