Article

Abundance and localization of human UBE3A protein isoforms

2020-03-31

Abstract excerpt

Loss of UBE3A expression, a gene regulated by genomic imprinting, causes Angelman Syndrome (AS), a rare neurodevelopmental disorder. The UBE3A gene encodes an E3 ubiquitin ligase with three known protein isoforms in humans. Studies in mouse suggest that the human isoforms may have differences in localization and neuronal function. A recent case study reported mild AS phenotypes in individuals lacking one specifi...

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Literature Corpus work: b0345210-3953-5819-aa3a-1579a83be1e4
DOI: 10.1101/2020.03.30.016857

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