Stem cell models of Angelman syndrome.

ABSTRACT: Angelman syndrome (AS) is an imprinted neurodevelopmental disorder that lacks a cure, characterized by developmental delay, intellectual impairment, seizures, ataxia, and paroxysmal laughter. The condition arises due to the loss of the maternally inherited copy of the UBE3A gene in neurons. The paternally inherited UBE3A allele is unable to compensate because it is silenced by the expression of an antisense transcript (UBE3A-ATS) on the paternal chromosome. UBE3A, encoding enigmatic E3 ubiquitin ligase variants, regulates target proteins by either modifying their properties/functions or leading them to degradation through the proteasome. Over time, animal models, particularly the Ube3a ^mat-/pat+ Knock-Out (KO) mice, have significantly contribut

SUBMITTER: Camoes Dos Santos J 

PROVIDER: S-EPMC10620611 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature