| http://purl.uniprot.org/citations/32249816 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32249816 | http://www.w3.org/2000/01/rdf-schema#comment | "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 a cell-autonomous manner. Moreover, Ube3b knockout (KO) neurons exhibit increased density and aberrant morphology of dendritic spines, altered synaptic physiology, and changes in hippocampal circuit activity. Dorsal forebrain-specific Ube3b KO animals show impaired spatial learning, altered social interactions, and repetitive behaviors. We further demonstrate that Ube3b ubiquitinates the catalytic γ-subunit of calcineurin, Ppp3cc, the overexpression of which phenocopies Ube3b loss with regard to dendritic spine density. This work provides insights into the molecular pathologies underlying intellectual disability-like phenotypes in a genetically engineered mouse model."xsd:string |
| http://purl.uniprot.org/citations/32249816 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41380-020-0714-8"xsd:string |
| http://purl.uniprot.org/citations/32249816 | http://purl.uniprot.org/core/author | "Jahn O."xsd:string |
| http://purl.uniprot.org/citations/32249816 | http://purl.uniprot.org/core/author | "Mueller S."xsd:string |
| http://purl.uniprot.org/citations/32249816 | http://purl.uniprot.org/core/author | "Straussberg R."xsd:string |
| http://purl.uniprot.org/citations/32249816 | http://purl.uniprot.org/core/author | "Borck G."xsd:string |
| http://purl.uniprot.org/citations/32249816 | http://purl.uniprot.org/core/author | "Smorodchenko A."xsd:string |
| http://purl.uniprot.org/citations/32249816 | http://purl.uniprot.org/core/author | "Dere E."xsd:string |
| http://purl.uniprot.org/citations/32249816 | http://purl.uniprot.org/core/author | "Kawabe H."xsd:string |
| http://purl.uniprot.org/citations/32249816 | http://purl.uniprot.org/core/author | "Schaub T."xsd:string |
| http://purl.uniprot.org/citations/32249816 | http://purl.uniprot.org/core/author | "Rhee J."xsd:string |
| http://purl.uniprot.org/citations/32249816 | http://purl.uniprot.org/core/author | "Schwark M."xsd:string |
| http://purl.uniprot.org/citations/32249816 | http://purl.uniprot.org/core/author | "Tarabykin V."xsd:string |
| http://purl.uniprot.org/citations/32249816 | http://purl.uniprot.org/core/author | "Yilmaz R."xsd:string |
| http://purl.uniprot.org/citations/32249816 | http://purl.uniprot.org/core/author | "Ambrozkiewicz M.C."xsd:string |
| http://purl.uniprot.org/citations/32249816 | http://purl.uniprot.org/core/author | "Borisova E."xsd:string |
| http://purl.uniprot.org/citations/32249816 | http://purl.uniprot.org/core/author | "Altas B."xsd:string |
| http://purl.uniprot.org/citations/32249816 | http://purl.uniprot.org/core/author | "Rosario M."xsd:string |
| http://purl.uniprot.org/citations/32249816 | http://purl.uniprot.org/core/author | "Willig K.I."xsd:string |
| http://purl.uniprot.org/citations/32249816 | http://purl.uniprot.org/core/author | "Rhee H.J."xsd:string |
| http://purl.uniprot.org/citations/32249816 | http://purl.uniprot.org/core/author | "Boehm-Sturm P."xsd:string |
| http://purl.uniprot.org/citations/32249816 | http://purl.uniprot.org/core/author | "Zaqout S."xsd:string |
| http://purl.uniprot.org/citations/32249816 | http://purl.uniprot.org/core/author | "Horan S.T."xsd:string |
| http://purl.uniprot.org/citations/32249816 | http://purl.uniprot.org/core/author | "Ripamonti S."xsd:string |