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Article

UBE3A isoform-selective and non-selective contributions to Angelman syndrome phenotypes.

Molecular psychiatry - 1 Jun 2026

Krzeski Joseph C, Mientjes Edwin J, Judson Matthew C, Dong Guangkuo, Hipp Rebecca I, Lien Katelyn H, Gu Bin, Philpot Benjamin D, Elgersma Ype

Abstract excerpt

Angelman syndrome (AS) is a neurodevelopmental disorder caused by UBE3A loss. In humans, UBE3A generates three isoforms that localize to distinct subcellular compartments-one mainly nuclear and two cytoplasmic. The nuclear and most highly expressed cytoplasmic UBE3A isoform are highly conserved in mice, whereas the cytoplasmic human isoform accounting for just ~1% of total UBE3A has no mouse counterpart. Loss of...

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Source

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Identifiers

PMID: 41652151
DOI: 10.1038/s41380-026-03468-9
PMCID: PMC13190305

Genes

UBE3A
PNN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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