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Article

UBE3A reinstatement as a disease‐modifying therapy for Angelman syndrome

4 Feb 2021

Abstract excerpt

Half a century ago, Harry Angelman reported three patients with overlapping clinical features, now well known as Angelman syndrome. Angelman syndrome is caused by mutations affecting the maternally inherited UBE3A gene, which encodes an E3-ubiquitin ligase that is critical for typical postnatal brain development. Emerging evidence indicates that UBE3A plays a particularly important role in the nucleus. However,...

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Share to Epigenetics and DNA Methylation
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Share to Prenatal Screening and Diagnostics

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PMID: 33543479
DOI: 10.1111/dmcn.14831

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