Evidence map›Paper›PMID 32198346›Full record

ArticleNature communications2020

2,6-Diaminopurine as a highly potent corrector of UGA nonsense mutations.

Carole Trzaska, Séverine Amand, Christine Bailly, Catherine Leroy, Virginie Marchand, Evelyne Duvernois-Berthet, Jean-Michel Saliou, Hana Benhabiles, Elisabeth Werkmeister, Thierry Chassat and 12 more

Abstract read
In one paragraph

Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.

0numbers the graph read from it
0cells of the map it votes in
46citing papers in PubMed
–field-weighted citation impact
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

46 citing papers in PubMed.

  1. Distinct responses ofMolecular therapy. Nucleic acids · 2026
    Article
  2. Article
  3. Article
  4. RNAViruses · 2026
    Review
  5. Article
  6. A Translational Roadmap for Neurological Nonsense Mutation Disorders.International journal of molecular sciences · 2026
    Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Review
  12. Review
  13. Review
  14. A W1282X cystic fibrosis mouse allows the study of pharmacological and gene-editing therapeutics to restore CFTR function.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2025
    Article
  15. Screening Methods for NMD Inhibitors or Readthrough Activators.Methods in molecular biology (Clifton, N.J.) · 2025
    Article
  16. Article
  17. Review
  18. Article
  19. Review
  20. Article
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

22 authors.

Carole Trzaska *Univ. Lille, CNRS, Inserm, CHU Lille, Institut Pasteur de Lille, UMR9020-UMR-S 1277, CANTHER - Cancer Heterogeneity, Plasticity and Resistance to Therapies, 59000, Lille, France.
Séverine Amand *Muséum National d'Histoire Naturelle, Centre National de la Recherche Scientifique, Laboratory Molecules of Communication and Adaptation of Microorganisms (MCAM), UMR 7245 CNRS-MNHN, 75005, Paris, France.
Christine Bailly *Muséum National d'Histoire Naturelle, Centre National de la Recherche Scientifique, Laboratory Molecules of Communication and Adaptation of Microorganisms (MCAM), UMR 7245 CNRS-MNHN, 75005, Paris, France.
Catherine LeroyUniv. Lille, CNRS, Inserm, CHU Lille, Institut Pasteur de Lille, UMR9020-UMR-S 1277, CANTHER - Cancer Heterogeneity, Plasticity and Resistance to Therapies, 59000, Lille, France.
Virginie MarchandNext-Generation Sequencing Core Facility, UMS2008 IBSLor CNRS-Université de Lorraine-INSERM, BioPôle, 54505, Vandoeuvre-les-Nancy, France.ORCID http://orcid.org/0000-0002-8537-1139
Evelyne Duvernois-BerthetMuséum National d'Histoire Naturelle, Centre National de la Recherche Scientifique, Laboratoire Physiologie Moléculaire et Adaptation (PhyMA), UMR7221 CNRS-MNHN, 75005, Paris, France.ORCID http://orcid.org/0000-0003-1442-6603
Jean-Michel SaliouCNRS, INSERM, CHU Lille, Institut Pasteur de Lille, U1019, UMR 8204, CIIL‑Centre d'Infection et d'Immunité de Lille, University of Lille, 59000, Lille, France.ORCID http://orcid.org/0000-0003-0105-5196
Hana BenhabilesUniv. Lille, CNRS, Inserm, CHU Lille, Institut Pasteur de Lille, UMR9020-UMR-S 1277, CANTHER - Cancer Heterogeneity, Plasticity and Resistance to Therapies, 59000, Lille, France.
Elisabeth WerkmeisterCellular Microbiology and Physics of Infection Group, Center for Infection and Immunity of Lille, CNRS UMR8204, INSERM U1019, Institut Pasteur de Lille, Lille Regional Univ. Hosp. Centr., Lille Univ., Lille, 59000, France.
Thierry ChassatInstitut Pasteur de Lille - PLEHTA (Plateforme d'expérimentation et de Haute Technologie Animale), 59019, Lille, France.
Romain GuilbertInstitut Pasteur de Lille - PLEHTA (Plateforme d'expérimentation et de Haute Technologie Animale), 59019, Lille, France.
David HannebiqueInstitut Pasteur de Lille - PLEHTA (Plateforme d'expérimentation et de Haute Technologie Animale), 59019, Lille, France.
Anthony MourayInstitut Pasteur de Lille - PLEHTA (Plateforme d'expérimentation et de Haute Technologie Animale), 59019, Lille, France.
Marie-Christine CopinUniv. Lille, CNRS, Inserm, CHU Lille, Institut Pasteur de Lille, UMR9020-UMR-S 1277, CANTHER - Cancer Heterogeneity, Plasticity and Resistance to Therapies, 59000, Lille, France.
Pierre-Arthur MoreauUniv. Lille, Fac. Pharmacie Lille, ULR 4515, LGCgE, Laboratoire de Génie Civil et géo-Environnement, 59000, Lille, France.ORCID http://orcid.org/0000-0003-4783-3643
Eric AdriaenssensUniv. Lille, CNRS, INSERM, CHU.Lille, Centre Oscar Lambert, UMR9020-UMR1277, CANTHER - Cancer Heterogeneity, Plasticity and Résistance to Therapies, 59000, Lille, France.
Andreas KulozikDepartment of Pediatric Oncology, Hematology and Immunology, Children's Hospital and Hopp Children's Tumor Center Heidelberg, EMBL/Medical Faculty Molecular Medicine Partnership Unit, 69120, Heidelberg, Germany.ORCID http://orcid.org/0000-0003-1953-0848
Eric WesthofArchitecture and Reactivity of RNA, Institute of Molecular and Cellular Biology of the CNRS UPR9002/University of Strasbourg, Strasbourg, 67084, France.
David TulasneUniv. Lille, CNRS, Inserm, CHU Lille, Institut Pasteur de Lille, UMR9020-UMR-S 1277, CANTHER - Cancer Heterogeneity, Plasticity and Resistance to Therapies, 59000, Lille, France.
Yuri MotorinIngénierie Moléculaire et Physiopathologie Articulaire, UMR7365, CNRS - Université de Lorraine, 54505, Vandoeuvre-les-Nancy, France.ORCID http://orcid.org/0000-0002-8018-334X
Sylvie RebuffatMuséum National d'Histoire Naturelle, Centre National de la Recherche Scientifique, Laboratory Molecules of Communication and Adaptation of Microorganisms (MCAM), UMR 7245 CNRS-MNHN, 75005, Paris, France.
Fabrice LejeuneUniv. Lille, CNRS, Inserm, CHU Lille, Institut Pasteur de Lille, UMR9020-UMR-S 1277, CANTHER - Cancer Heterogeneity, Plasticity and Resistance to Therapies, 59000, Lille, France. fabrice.lejeune@inserm.fr.ORCID http://orcid.org/0000-0002-5132-3585

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Nonsense mutations cause about 10% of genetic disease cases, and no treatments are available. Nonsense mutations can be corrected by molecules with nonsense mutation readthrough activity. An extract of the mushroom Lepista inversa has recently shown high-efficiency correction of UGA and UAA nonsense mutations. One active constituent of this extract is 2,6-diaminopurine (DAP). In Calu-6 cancer cells, in which TP53 gene has a UGA nonsense mutation, DAP treatment increases p53 level. It also decreases the growth of tumors arising from Calu-6 cells injected into immunodeficient nude mice. DAP acts by interfering with the activity of a tRNA-specific 2'-O-methyltransferase (FTSJ1) responsible for cytosine 34 modification in tRNA

Indexed as

Drug DiscoveryDrug Screening Assays, Antitumor2-AminopurineAnimalsCodon, NonsenseDisease Models, AnimalGene Expression Regulation, NeoplasticGenes, p53HEK293 CellsHeLa CellsHumansLepismaMiceMice, NudeMutationRNA, Transfer2,6-diaminopurine2-AminopurineCodon, NonsenseFtsj1 protein, mouseRNA, TransfertRNA Methyltransferases

Identifiers

PMID32198346
PMCPMC7083880

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