Article

The Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc

2019-06-16

Abstract excerpt

<h4>ABSTRACT</h4> Kaufman oculocerebrofacial syndrome (KOS) is a severe autosomal recessive disorder characterized by intellectual disability, developmental delays, microcephaly and characteristic dysmorphisms. Biallelic mutations of UBE3B , encoding for a ubiquitin ligase E3B are causative for KOS. In this report, we characterize neuronal functions of its murine ortholog Ube3b . We show that Ube3b regulates de...

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Literature Corpus work: 114264cb-6f82-5444-b743-16d7a9819362
DOI: 10.1101/672923

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