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Stem cell models of Angelman syndrome

19 Oct 2023

Abstract excerpt

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...

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PMID: 37928900
DOI: 10.3389/fcell.2023.1274040

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