Evidence map›Paper›PMID 23912948›Full record

ArticleNature neuroscience2013

Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders.

Georg Stoll, Olli P H Pietiläinen, Bastian Linder, Jaana Suvisaari, Cornelia Brosi, William Hennah, Virpi Leppä, Minna Torniainen, Samuli Ripatti, Sirpa Ala-Mello and 23 more

Open access · greenAbstract read
In one paragraph

Article in Nature neuroscience, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 119 papers.

0numbers the graph read from it
0cells of the map it votes in
119citing papers in PubMed
11.6field-weighted citation impact, top 1% 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

119 citing papers in PubMed, 172 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Topoisomerase IIIβ protects from tumorigenesis and immune dysregulation.bioRxiv : the preprint server for biology · 2025
    Article
  11. Review
  12. Article
  13. Review
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Review
  20. Annals of the Child Neurology Society · 2024
    Article

59 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

33 authors at 15 institutions in 5 countries.

Georg Stoll *Department of Biochemistry, University of Würzburg, Germany.
Olli P H Pietiläinen *Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Bastian Linder *Department of Biochemistry, University of Würzburg, Germany.
Jaana SuvisaariNational Institute for Health and Welfare, Department of Mental Health and Substance Abuse Services, Helsinki, Finland.
Cornelia BrosiDepartment of Biochemistry, University of Würzburg, Germany.
William HennahInstitute for Molecular Medicine Finland (FIMM), Helsinki, Finland.
Virpi LeppäInstitute for Molecular Medicine Finland (FIMM), Helsinki, Finland.
Minna TorniainenNational Institute for Health and Welfare, Department of Mental Health and Substance Abuse Services, Helsinki, Finland.
Samuli RipattiWellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Sirpa Ala-MelloHelsinki University Central Hospital, Department of Clinical Genetics, Helsinki, Finland.
Oliver PlöttnerPharma Research and Early Development, Roche Diagnostics GmbH, Penzberg, Germany.
Karola RehnströmWellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Annamari Tuulio-HenrikssonNational Institute for Health and Welfare, Department of Mental Health and Substance Abuse Services, Helsinki, Finland.
Teppo VariloInstitute for Molecular Medicine Finland (FIMM), Helsinki, Finland.
Jonna TallilaWellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Kati KristianssonInstitute for Molecular Medicine Finland (FIMM), Helsinki, Finland.
Matti IsohanniDepartment of Psychiatry, Institute of Clinical Medicine, University of Oulu, Finland.
Jaakko KaprioInstitute for Molecular Medicine Finland (FIMM), Helsinki, Finland.
Johan G ErikssonNational Institute for Health and Welfare, Chronic Disease Epidemiology and Prevention, Helsinki, Finland.
Olli T RaitakariDepartment of Clinical Physiology and Nuclear Medicine, University of Turku and Turku University Hospital, Turku, Finland.
Terho LehtimäkiDepartment of Clinical Chemistry, University of Tampere and Tampere University Hospital, Finland.
Marjo-Riitta JarvelinDepartment of Epidemiology and Biostatistics, Imperial College London, London, United Kingdom.
Veikko SalomaaNational Institute for Health and Welfare, Department of Chronic Disease Prevention, Helsinki/Turku, Finland.
Matthew HurlesWellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Hreinn StefanssondeCODE genetics, 101 Reykjavik, Iceland.
Leena PeltonenWellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Patrick F SullivanDepartments of Genetics, Psychiatry and Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Tiina PaunioInstitute for Molecular Medicine Finland (FIMM), Helsinki, Finland.
Jouko LönnqvistNational Institute for Health and Welfare, Department of Mental Health and Substance Abuse Services, Helsinki, Finland.
Mark J DalyAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.
Utz FischerDepartment of Biochemistry, University of Würzburg, Germany.
Nelson B FreimerCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, UCLA, Los Angeles, California, USA.
Aarno PalotieWellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Institute for Molecular Medicine Finland · FIFinnish Institute for Health and Welfare · FIWellcome Sanger Institute · GBUniversity of Würzburg · DEHelsinki University Hospital · FIBroad Institute · USdeCODE Genetics (Iceland) · ISImperial College London · GBRoche Pharma AG (Germany) · DETampere University · FIUniversity of California, Los Angeles · USUniversity of Helsinki · FIUniversity of North Carolina at Chapel Hill · USUniversity of Oulu · FIUniversity of Turku · FI

Funding

Integrative Center for Neurogenetics and Neurogenomics - OverallP30NS062691 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI COPPOLA, GIOVANNI · 2009 to 2018
$7.4M
Whole Genome Assoc. Analysis Strategies for Multi. PhenotypesRL1MH083268 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI FREIMER, NELSON B. · 2007 to 2011
$2.1M
NIMH NIH HHS RL1 MH083268NIMH NIH HHS RL1MH083268NINDS NIH HHS P30 NS062691NINDS NIH HHS P30NS062691Wellcome Trust 079643Wellcome Trust WT089062Wellcome Trust WT098051
6 · The paper itself

Abstract

Implicating particular genes in the generation of complex brain and behavior phenotypes requires multiple lines of evidence. The rarity of most high-impact genetic variants typically precludes the possibility of accruing statistical evidence that they are associated with a given trait. We found that the enrichment of a rare chromosome 22q11.22 deletion in a recently expanded Northern Finnish sub-isolate enabled the detection of association between TOP3B and both schizophrenia and cognitive impairment. Biochemical analysis of TOP3β revealed that this topoisomerase was a component of cytosolic messenger ribonucleoproteins (mRNPs) and was catalytically active on RNA. The recruitment of TOP3β to mRNPs was independent of RNA cis-elements and was coupled to the co-recruitment of FMRP, the disease gene product in fragile X mental retardation syndrome. Our results indicate a previously unknown role for TOP3β in mRNA metabolism and suggest that it is involved in neurodevelopmental disorders.

Indexed as

Abnormalities, MultipleAdolescentAdultAgedChromosome DeletionChromosomes, Human, Pair 22Cognition DisordersCohort StudiesDiGeorge SyndromeDNA Topoisomerases, Type IFamily HealthFemaleFinlandFragile X Messenger Ribonucleoprotein 1Gene Expression ProfilingGenetic Association StudiesDNA Topoisomerases, Type IFragile X Messenger Ribonucleoprotein 1messenger ribonucleoproteinProteinsRibonucleoproteinsTdrd3 protein, human

Identifiers

PMID23912948
PMCPMC3986889
OpenAlexW2091446808

What OpenQuestion holds

Textmetadata
LicenceTDM
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.