The gain-of-function UBE3AQ588E variant causes Angelman-like neurodevelopmental phenotypes in mice
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DOI: 10.1038/s41598-025-92511-w
Abstract: Mutations in the E3 ubiquitin ligase UBE3A that cause enzymatic gain-of-function result in disease phenotypes which differ from classic Angelman syndrome. However, these phenotypes are highly heterogeneous raising questions about the mechanistic basis of such… read more here.
Keywords: function ube3aq588e; gain function; function; angelman like ... See more keywords