Evidence map›Paper›PMID 32249816›Full record

ArticleMolecular psychiatry2021

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

Mateusz C Ambrozkiewicz, Ekaterina Borisova, Manuela Schwark, Silvia Ripamonti, Theres Schaub, Alina Smorodchenko, A Ioana Weber, Hong Jun Rhee, Bekir Altas, Rüstem Yilmaz and 14 more

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Article in Molecular psychiatry, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
2.1field-weighted citation impact, top 14% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

18 citing papers in PubMed, 28 citations in OpenAlex.

  1. Review
  2. Review
  3. The E3 Ubiquitin Ligase UBE3B Regulates Synaptic Development and Cortical Network Activity.Autism research : official journal of the International Society for Autism Research · 2026
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  9. microPublication biology · 2024
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  17. Case Report: A NovelFrontiers in genetics · 2021
    Article
  18. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

24 authors at 9 institutions in 5 countries.

Mateusz C AmbrozkiewiczDepartment of Molecular Neurobiology, Max Planck Institute of Experimental Medicine, Hermann-Rein-Str. 3, 37075, Göttingen, Germany. Mateusz-cyryl.ambrozkiewicz@charite.de.
Ekaterina BorisovaInstitute of Neuroscience, Lobachevsky University of Nizhny Novgorod, pr. Gagarina 24, Nizhny Novgorod, Russian Federation.
Manuela SchwarkDepartment of Molecular Neurobiology, Max Planck Institute of Experimental Medicine, Hermann-Rein-Str. 3, 37075, Göttingen, Germany.
Silvia RipamontiDepartment of Molecular Neurobiology, Max Planck Institute of Experimental Medicine, Hermann-Rein-Str. 3, 37075, Göttingen, Germany.
Theres SchaubInstitute of Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Charitéplatz 1, 10117, Berlin, Germany.
Alina SmorodchenkoInstitute of Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Charitéplatz 1, 10117, Berlin, Germany.
A Ioana WeberInstitute of Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Charitéplatz 1, 10117, Berlin, Germany.
Hong Jun RheeDepartment of Molecular Neurobiology, Max Planck Institute of Experimental Medicine, Hermann-Rein-Str. 3, 37075, Göttingen, Germany.
Bekir AltasDepartment of Molecular Neurobiology, Max Planck Institute of Experimental Medicine, Hermann-Rein-Str. 3, 37075, Göttingen, Germany.
Rüstem YilmazCenter for Rare Diseases (ZSE Ulm), Ulm University Hospital, Eythstraße 24, 89075, Ulm, Germany.
Susanne MuellerDepartment of Experimental Neurology and Center for Stroke Research, Charité-Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany.
Lars PiepkornProteomics Group, Max Planck Institute of Experimental Medicine, Hermann-Rein-Str. 3, 37075, Göttingen, Germany.
Stephen T HoranInstitute of Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Charitéplatz 1, 10117, Berlin, Germany.
Rachel StraussbergInstitute of Child Neurology, Schneider's Children Medical Center, Petah Tikvah, Israel.
Sami ZaqoutBasic Medical Science Department, College of Medicine, QU Health, Qatar University, Doha, Qatar.
Olaf JahnProteomics Group, Max Planck Institute of Experimental Medicine, Hermann-Rein-Str. 3, 37075, Göttingen, Germany.
Ekrem DereClinical Neuroscience, Max Planck Institute of Experimental Medicine, Hermann-Rein-Str. 3, 37075, Göttingen, Germany.
Marta RosárioInstitute of Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Charitéplatz 1, 10117, Berlin, Germany.
Philipp Boehm-SturmDepartment of Experimental Neurology and Center for Stroke Research, Charité-Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany.
Guntram BorckCenter for Rare Diseases (ZSE Ulm), Ulm University Hospital, Eythstraße 24, 89075, Ulm, Germany.
Katrin I WilligCenter for Nanoscale Microscopy and Molecular Physiology of the Brain, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany.ORCID http://orcid.org/0000-0002-1860-334X
JeongSeop RheeDepartment of Molecular Neurobiology, Max Planck Institute of Experimental Medicine, Hermann-Rein-Str. 3, 37075, Göttingen, Germany.
Victor Tarabykin *Institute of Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Charitéplatz 1, 10117, Berlin, Germany.
Hiroshi Kawabe *Department of Molecular Neurobiology, Max Planck Institute of Experimental Medicine, Hermann-Rein-Str. 3, 37075, Göttingen, Germany. kawabe@em.mpg.de.ORCID http://orcid.org/0000-0001-5650-8696
Max Planck Institute of Experimental Medicine · DEHumboldt-Universität zu Berlin · DECharité - Universitätsmedizin Berlin · DEUniversity Hospital Ulm · DEKAN Research Institute · JPN. I. Lobachevsky State University of Nizhny Novgorod · RUQatar University · QATel Aviv University · ILUniversitätsmedizin Göttingen · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Intellectual DisabilityMicrocephalyAnimalsCalcineurinDendritic SpinesEye AbnormalitiesFaciesLimb Deformities, CongenitalMiceMice, KnockoutMutationSynapsesUbiquitin-Protein LigasesCalcineurinUbiquitin-Protein Ligases

Identifiers

PMID32249816
OpenAlexW3014198758

What OpenQuestion holds

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.