English
 
Help Privacy Policy Disclaimer
  Advanced SearchBrowse
  1. View item / 
  2. Item Summary

Item

ITEM ACTIONSEXPORT
Add to Basket
  Local TagsRelease HistoryDetailsSummary

Released
Journal Article

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

MPS-Authors
/persons/resource/persons182069

Ambrozkiewicz,  Mateusz
Molecular neurobiology, Max Planck Institute of Experimental Medicine, Max Planck Society;

/persons/resource/persons182403

Schwark,  Manuela
Molecular neurobiology, Max Planck Institute of Experimental Medicine, Max Planck Society;

/persons/resource/persons182374

Ripamonti,  Silvia
Molecular neurobiology, Max Planck Institute of Experimental Medicine, Max Planck Society;

/persons/resource/persons203529

Rhee,  Hong Jun
Molecular neurobiology, Max Planck Institute of Experimental Medicine, Max Planck Society;

/persons/resource/persons182066

Altas,  Bekir
Molecular neurobiology, Max Planck Institute of Experimental Medicine, Max Planck Society;

/persons/resource/persons220938

Piepkorn,  Lars
Proteomics, Wiss. Servicegruppen, Max Planck Institute of Experimental Medicine, Max Planck Society;

/persons/resource/persons182214

Jahn,  Olaf
Proteomics, Wiss. Servicegruppen, Max Planck Institute of Experimental Medicine, Max Planck Society;

/persons/resource/persons182126

Dere,  Ekrem
Clinical neuroscience, Max Planck Institute of Experimental Medicine, Max Planck Society;

/persons/resource/persons16030

Willig,  Katrin. I.
Max Planck Institute of Experimental Medicine, Max Planck Society;

/persons/resource/persons182371

Rhee,  Jeong Seop
Molecular neurobiology, Max Planck Institute of Experimental Medicine, Max Planck Society;

/persons/resource/persons182236

Kawabe,  Hiroshi
Molecular neurobiology, Max Planck Institute of Experimental Medicine, Max Planck Society;

External Resource
No external resources are shared
Fulltext (restricted access)
There are currently no full texts shared for your IP range.
Fulltext (public)
There are no public fulltexts stored in PuRe
Supplementary Material (public)
There is no public supplementary material available
Citation

Ambrozkiewicz, M., Borisova, E., Schwark, M., Ripamonti, S., Schaub, T., Smorodchenko, A., et al. (2021). The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc. Molecular Psychiatry, 26, 1980-1995. doi:10.1038/s41380-020-0714-8.


Cite as: https://hdl.handle.net/21.11116/0000-000A-EA9B-0
Abstract
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.