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

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.

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 Creators:
Ambrozkiewicz, Mateusz1, Author           
Borisova, Ekaterina, Author
Schwark, Manuela1, Author           
Ripamonti, Silvia1, Author           
Schaub, Theres, Author
Smorodchenko, Alina, Author
Weber, A. Ioana, Author
Rhee, Hong Jun1, Author           
Altas, Bekir1, Author           
Yilmaz, Rüstem, Author
Mueller, Susanne, Author
Piepkorn, Lars2, Author           
Horan, Stephen T., Author
Straussberg, Rachel, Author
Zaqout, Sami, Author
Jahn, Olaf2, Author           
Dere, Ekrem3, Author           
Rosário, Marta, Author
Boehm-Sturm, Philipp, Author
Borck, Guntram, Author
Willig, Katrin. I.4, Author           Rhee, Jeong Seop1, Author           Tarabykin, Victor, AuthorKawabe, Hiroshi1, Author            more..
Affiliations:
1Molecular neurobiology, Max Planck Institute of Experimental Medicine, Max Planck Society, ou_2173659              
2Proteomics, Wiss. Servicegruppen, Max Planck Institute of Experimental Medicine, Max Planck Society, ou_2173673              
3Clinical neuroscience, Max Planck Institute of Experimental Medicine, Max Planck Society, ou_2173651              
4Max Planck Institute of Experimental Medicine, Max Planck Society, ou_2173648              

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 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.

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Language(s): eng - English
 Dates: 2020-04-062021
 Publication Status: Published in print
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 Identifiers: DOI: 10.1038/s41380-020-0714-8
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Project name : This work was supported by the German Research Foundation (SPP1365/KA3423/1-1 and KA3423/3-1, HK; DFG TA 303/4-2, VT), and the Russian Scientific Foundation (19-14- 00345, VT), JSPS KAKENHI Grant Numbers 15K21769 (HK), The Mother and Child Health Foundation (HK), the Uehara Memorial Foundation (HK), and the Fritz Thyssen Foundation (HK). Funding to SM and PBS was provided by the German Federal Ministry of Edu- cation and Research (BMBF, Center for Stroke Research Berlin 01EO1301), the BMBF under the ERA-NET NEURON scheme (01EW1811), and the German Research Foundation (DFG, Project 428869206 and EXC NeuroCure).
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Title: Molecular Psychiatry
Source Genre: Journal
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Pages: - Volume / Issue: 26 Sequence Number: - Start / End Page: 1980 - 1995 Identifier: ISSN: 1359-4184
ISSN: 1476-5578