Evidence map›Paper›PMID 33402532›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2021

A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions.

Miguel Rodríguez de Los Santos, Marion Rivalan, Friederike S David, Alexander Stumpf, Julika Pitsch, Despina Tsortouktzidis, Laura Moreno Velasquez, Anne Voigt, Karl Schilling, Daniele Mattei and 14 more

Open access · bronzeAbstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
2.1field-weighted citation impact, top 13% 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

10 citing papers in PubMed, 14 citations in OpenAlex.

  1. On the importance of including both sexes in animal studies - insights from home-cage monitoring.Biological reviews of the Cambridge Philosophical Society · 2026
    Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. AAV-based gene therapy ameliorated CNS-specific GPI defect in mouse models.Molecular therapy. Methods & clinical development · 2024
    Article
  7. Article
  8. Genome-wide CRISPR screen reveals CLPTM1L as a lipid scramblase required for efficient glycosylphosphatidylinositol biosynthesis.Proceedings of the National Academy of Sciences of the United States of America · 2022
    Article
  9. Article
  10. 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 8 institutions in 3 countries.

Miguel Rodríguez de Los SantosInstitute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.ORCID 0000-0002-2126-7658
Marion RivalanAnimal Outcome Core Facility of the NeuroCure Center, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.ORCID 0000-0002-1642-7522
Friederike S DavidInstitute for Genomic Statistics and Bioinformatics, University of Bonn, 53127 Bonn, Germany.ORCID 0000-0001-9521-5669
Alexander StumpfNeuroscience Research Center, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.ORCID 0000-0002-1510-6970
Julika PitschSection for Translational Epilepsy Research, Department of Neuropathology, University Hospital Bonn, 53127 Bonn, Germany.
Despina TsortouktzidisSection for Translational Epilepsy Research, Department of Neuropathology, University Hospital Bonn, 53127 Bonn, Germany.ORCID 0000-0003-3753-7373
Laura Moreno VelasquezNeuroscience Research Center, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.
Anne VoigtNeuroscience Research Center, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.
Karl SchillingAnatomisches Institut, Anatomie und Zellbiologie, Faculty of Medicine, University of Bonn, 53115 Bonn, Germany.
Daniele MatteiInstitute of Veterinary Pharmacology and Toxicology, University of Zürich (UZH), 8057 Zürich, Switzerland.ORCID 0000-0001-6221-9321
Melissa LongAnimal Outcome Core Facility of the NeuroCure Center, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.
Guido VogtInstitute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.ORCID 0000-0002-7475-2972
Alexej KnausInstitute for Genomic Statistics and Bioinformatics, University of Bonn, 53127 Bonn, Germany.ORCID 0000-0003-0366-0533
Björn Fischer-ZirnsakInstitute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.ORCID 0000-0002-1075-7571
Lars WittlerDepartment Developmental Genetics, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.ORCID 0000-0001-7873-6702
Bernd TimmermannSequencing Core Facility, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
Peter N RobinsonThe Jackson Laboratory for Genomic Medicine, Farmington, CT 06032.
Denise HornInstitute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.ORCID 0000-0003-0870-8911
Stefan MundlosInstitute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.
Uwe KornakInstitute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.
Albert J BeckerSection for Translational Epilepsy Research, Department of Neuropathology, University Hospital Bonn, 53127 Bonn, Germany.
Dietmar SchmitzNeuroscience Research Center, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.
York WinterAnimal Outcome Core Facility of the NeuroCure Center, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.ORCID 0000-0002-7828-1872
Peter M KrawitzInstitute for Genomic Statistics and Bioinformatics, University of Bonn, 53127 Bonn, Germany; pkrawitz@uni-bonn.de.ORCID 0000-0002-3194-8625
Charité - Universitätsmedizin Berlin · DEMax Planck Institute for Molecular Genetics · DEUniversity of Bonn · DEHumboldt-Universität zu Berlin · DEUniversity Hospital Bonn · DEUniversitätsmedizin Göttingen · DEUniversity of Connecticut · USUniversity of Zurich · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pathogenic germline mutations in

Indexed as

Abnormalities, MultipleAmino AcidsAmino Acid SequenceAnimalsCRISPR-Cas SystemsDisease Models, AnimalEpilepsyGlycosylphosphatidylinositolsHippocampusIntellectual DisabilityMannosyltransferasesMiceMice, Inbred C57BLMutationMutation, MissensePhenotypeAmino AcidsGlycosylphosphatidylinositolsMannosyltransferasesdisease modelingGPI-anchor deficiencyhippocampal synaptic defect

Identifiers

PMID33402532
PMCPMC7812744
OpenAlexW3118447280

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.