Evidence map›Paper›PMID 36136249›Full record

ArticleCellular and molecular life sciences : CMLS2022

CAPRIN1

Andrea Delle Vedove, Janani Natarajan, Ginevra Zanni, Matthias Eckenweiler, Anixa Muiños-Bühl, Markus Storbeck, Jordina Guillén Boixet, Sabina Barresi, Simone Pizzi, Irmgard Hölker and 7 more

Open access · hybridAbstract readCase Reports
In one paragraph

Article in Cellular and molecular life sciences : CMLS, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
1.3field-weighted citation impact, top 20% 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

11 citing papers in PubMed, 17 citations in OpenAlex.

  1. Review
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  6. Long-TermInternational journal of molecular sciences · 2023
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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

17 authors at 4 institutions in 2 countries.

Andrea Delle VedoveInstitute of Human Genetics, University Hospital of Cologne, University Cologne, 50931, Cologne, Germany.
Janani NatarajanCenter for Molecular and Cellular Bioengineering, Biotechnology Center, Technische Universität Dresden, 01307, Dresden, Germany.
Ginevra ZanniGenetics and Rare Diseases Research Division and Unit of Muscular and Neurodegenerative Disorders - the Department of Neurosciences of the Bambino Gesù Childrens' Hospital, IRCCS, Rome, Italy.
Matthias EckenweilerDepartment of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center-University of Freiburg, University of Freiburg, 79106, Freiburg, Germany.
Anixa Muiños-BühlInstitute of Human Genetics, University Hospital of Cologne, University Cologne, 50931, Cologne, Germany.
Markus StorbeckInstitute of Human Genetics, University Hospital of Cologne, University Cologne, 50931, Cologne, Germany.
Jordina Guillén BoixetCenter for Molecular and Cellular Bioengineering, Biotechnology Center, Technische Universität Dresden, 01307, Dresden, Germany.
Sabina BarresiGenetics and Rare Diseases Research Division and Unit of Muscular and Neurodegenerative Disorders - the Department of Neurosciences of the Bambino Gesù Childrens' Hospital, IRCCS, Rome, Italy.
Simone PizziGenetics and Rare Diseases Research Division and Unit of Muscular and Neurodegenerative Disorders - the Department of Neurosciences of the Bambino Gesù Childrens' Hospital, IRCCS, Rome, Italy.
Irmgard HölkerInstitute of Human Genetics, University Hospital of Cologne, University Cologne, 50931, Cologne, Germany.
Friederike KörberInstitute of Diagnostic and Interventional Radiology, 50937, Cologne, Germany.
Titus M FranzmannCenter for Molecular and Cellular Bioengineering, Biotechnology Center, Technische Universität Dresden, 01307, Dresden, Germany.
Enrico S BertiniGenetics and Rare Diseases Research Division and Unit of Muscular and Neurodegenerative Disorders - the Department of Neurosciences of the Bambino Gesù Childrens' Hospital, IRCCS, Rome, Italy.
Janbernd KirschnerDepartment of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center-University of Freiburg, University of Freiburg, 79106, Freiburg, Germany.
Simon AlbertiCenter for Molecular and Cellular Bioengineering, Biotechnology Center, Technische Universität Dresden, 01307, Dresden, Germany.
Marco TartagliaGenetics and Rare Diseases Research Division and Unit of Muscular and Neurodegenerative Disorders - the Department of Neurosciences of the Bambino Gesù Childrens' Hospital, IRCCS, Rome, Italy.
Brunhilde WirthInstitute of Human Genetics, University Hospital of Cologne, University Cologne, 50931, Cologne, Germany. brunhilde.wirth@uk-koeln.de.ORCID http://orcid.org/0000-0003-4051-5191
Bambino Gesù Children's Hospital · ITUniversity of Cologne · DETechnische Universität Dresden · DEUniversity of Freiburg · DE

Funding

Center for Molecular Medicine Cologne, University of Cologne C18Deutsche Forschungsgemeinschaft GRK1960 (project ID 233886668)Deutsche Forschungsgemeinschaft SFB1451 (project-ID 431549029 - A01)Deutsche Forschungsgemeinschaft Wi 945/17-1 (project-ID 398410809)Deutsche Forschungsgemeinschaft Wi 945/18-1 (project ID 384170921)Deutsche Forschungsgemeinschaft Wi 945/19-1 (project-ID 417989143)Fondazione Bambino Gesù Vite CoraggioseHORIZON EUROPE European Research Council Marie Skłodowska-Curie grant agreement No 956185 (SMABEYOND)HORIZON EUROPE European Research Council n° 2012-305121 "Neuromics"Italian Ministry of Health CCR-2017-23669081Italian Ministry of Health RCR-2020-23670068_001Italian Ministry of Health Ricerca 5x1000Italian Ministry of Research FOE 2019
6 · The paper itself

Abstract

CAPRIN1 is a ubiquitously expressed protein, abundant in the brain, where it regulates the transport and translation of mRNAs of genes involved in synaptic plasticity. Here we describe two unrelated children, who developed early-onset ataxia, dysarthria, cognitive decline and muscle weakness. Trio exome sequencing unraveled the identical de novo c.1535C > T (p.Pro512Leu) missense variant in CAPRIN1, affecting a highly conserved residue. In silico analyses predict an increased aggregation propensity of the mutated protein. Indeed, overexpressed CAPRIN1

Indexed as

Cell Cycle ProteinsProtein AggregatesAtaxiaChildHumansMutationRNA, MessengerCAPRIN1 protein, humanCell Cycle ProteinsProtein AggregatesRNA, MessengerCRISPR/Cas9De novo variantNeurodegenerationPrion-like domainProtein misfolding

Identifiers

PMID36136249
PMCPMC9499908
OpenAlexW4296625150

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.