Article

UBE3A reinstatement restores behavior and proteome in an Angelman Syndrome mouse model of Imprinting Defects

2024-10-01

Abstract excerpt

Angelman Syndrome (AS) is a severe neurodevelopmental disorder wionly symptomatic treatment currently available. Besides mutations within the UBE3A gene, AS is caused by deletions, imprinting center defects (mICD) or uniparental disomy of chromosome 15 (UPD). Current mouse models are Ube3a -centric and do not address expression changes of other 15q11-q13 genes on AS pathophysiology. Here, we studied a mouse line...

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Literature Corpus work: 54332061-d202-5dc3-b99e-b020dbba4e02
DOI: 10.1101/2024.09.29.615689

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