Article
The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc.
Molecular psychiatry - 1 Jun 2021
Ambrozkiewicz Mateusz C, Borisova Ekaterina, Schwark Manuela, Ripamonti Silvia, Schaub Theres, Smorodchenko Alina, Weber A Ioana, Rhee Hong Jun, Altas Bekir, Yilmaz Rüstem, Mueller Susanne, Piepkorn Lars, Horan Stephen T, Straussberg Rachel, Zaqout Sami, Jahn Olaf, Dere Ekrem, Rosário Marta, Boehm-Sturm Philipp, Borck Guntram, Willig Katrin I, Rhee JeongSeop, Tarabykin Victor, Kawabe Hiroshi
Abstract excerpt
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 and show that Ube3b regulates dendritic branching in...
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