Article

Cell-type-specific dysregulated gene expression in the frontal cortex of an Angelman syndrome pig model

2025-08-24

Abstract excerpt

<h4>ABSTRACT</h4> Angelman syndrome is a neurodevelopmental disorder caused by the loss of the maternal allele of the ubiquitin-protein ligase E3A ( UBE3A ) gene. UBE3A is imprinted with maternal-allelic expression in neurons of the central nervous system (CNS) and biallelic expression in other cell types. Consequently, in Angelman syndrome, UBE3A is substantially reduced in CNS neurons and reduced by half in o...

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Literature Corpus work: 64de8754-317c-5ece-84ab-9c6775a62ef7
DOI: 10.1101/2025.08.20.671338

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