Article

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q-Associated Autism Phenotypes

2026-05-15

Abstract excerpt

UBE3A is a dosage-sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2–q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived duplications involving UBE3A contribute to Dup15q-associated syndromic autism phenotypes. This review...

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Literature Corpus work: 009fc428-b8fb-51e5-90b7-340d0011ef56
DOI: 10.20944/preprints202605.1078.v1

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