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Article

Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation.

European journal of human genetics : EJHG - 1 Nov 2010

Low Daren, Chen Ken-Shiung

Abstract excerpt

Angelman syndrome (AS) is a human neurological disorder caused by lack of maternal UBE3A expression in the brain. UBE3A is known to function as both an ubiquitin-protein ligase (E3) and a coactivator for steroid receptors. Many ubiquitin targets, as well as interacting partners, of UBE3A have been identified. However, the pathogenesis of AS, and how deficiency of maternal UBE3A can upset cellular homeostasis,...

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Identifiers

PMID: 20571502
DOI: 10.1038/ejhg.2010.95
PMCID: PMC2987484

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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