Article
An ASO therapy for Angelman syndrome that targets an evolutionarily conserved region at the start of the UBE3A-AS transcript.
Science translational medicine - 22 Mar 2023
Dindot Scott V, Christian Sarah, Murphy William J, Berent Allyson, Panagoulias Jennifer, Schlafer Annalise, Ballard Johnathan, Radeva Kamelia, Robinson Ruth, Myers Luke, Jepp Thomas, Shaheen Hillary, Hillman Paul, Konganti Kranti, Hillhouse Andrew, Bredemeyer Kevin R, Black Lauren, Douville Julie
Abstract excerpt
Angelman syndrome is a devastating neurogenetic disorder for which there is currently no effective treatment. It is caused by mutations or epimutations affecting the expression or function of the maternally inherited allele of the ubiquitin-protein ligase E3A (UBE3A) gene. The paternal UBE3A allele is imprinted in neurons of the central nervous system (CNS) by the UBE3A antisense (UBE3A-AS) transcript, which...
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