Article
Transcriptional reprogramming restores UBE3A brain-wide and rescues behavioral phenotypes in an Angelman syndrome mouse model.
Molecular therapy : the journal of the American Society of Gene Therapy - 5 Apr 2023
O'Geen Henriette, Beitnere Ulrika, Garcia Miranda S, Adhikari Anna, Cameron David L, Fenton Timothy A, Copping Nycole A, Deng Peter, Lock Samantha, Halmai Julian A N M, Villegas Isaac J, Liu Jiajian, Wang Danhui, Fink Kyle D, Silverman Jill L, Segal David J
Abstract excerpt
Angelman syndrome (AS) is a neurogenetic disorder caused by the loss of ubiquitin ligase E3A (UBE3A) gene expression in the brain. The UBE3A gene is paternally imprinted in brain neurons. Clinical features of AS are primarily due to the loss of maternally expressed UBE3A in the brain. A healthy copy of paternal UBE3A is present in the brain but is silenced by a long non-coding antisense transcript (UBE3A-ATS)....
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