Article

Deleting a UBE3A substrate rescues impaired hippocampal physiology and learning in Angelman syndrome mice

2019-05-02

Abstract excerpt

<h4>ABSTRACT</h4> In humans, loss-of-function mutations in the UBE3A gene lead to the neurodevelopmental disorder Angelman syndrome (AS). AS patients have severe impairments in speech, learning and memory, and motor coordination, for which there is currently no treatment. In addition, UBE3A is duplicated in >1-2% of patients with autism spectrum disorders – a further indication of the significant role it plays...

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Literature Corpus work: f57cb038-9205-5c2a-bc04-881622a54654
DOI: 10.1101/625418

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