Article

A Human Angelman Syndrome Class II Pluripotent Stem Cell line with Fluorescent Paternal <i>UBE3A</i> Reporter

2025-07-14

Abstract excerpt

<h4>Introduction</h4> Angelman Syndrome (AS) is characterized in large part by the loss of functional UBE3A protein in mature neurons. A majority of AS etiologies is linked to deletion of the maternal copy of the UBE3A gene and epigenetic silencing of the paternal copy. A common therapeutic strategy is to unsilence the intact paternal copy thereby restoring UBE3A levels. Identifying novel therapies has been aide...

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Literature Corpus work: f00302a5-7068-5766-8ca6-9d15e202ceb0
DOI: 10.1101/2025.07.12.664539

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