Evidence map›Paper›PMID 32575694›Full record

ReviewInternational journal of molecular sciences2020

Suppression of Nonsense Mutations by New Emerging Technologies.

Pedro Morais, Hironori Adachi, Yi-Tao Yu

Open access · goldAbstract readReview
In one paragraph

Review in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.

0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed
2.9field-weighted citation impact, top 8% 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

38 citing papers in PubMed, 62 citations in OpenAlex.

  1. Distinct responses ofMolecular therapy. Nucleic acids · 2026
    Article
  2. Article
  3. Nonsense-mediated mRNA decay: friend or foe in cancer biology?Cell communication and signaling : CCS · 2026
    Review
  4. Article
  5. Article
  6. Article
  7. Molecular treatment options for patients carryingMolecular therapy. Nucleic acids · 2025
    Article
  8. Review
  9. Review
  10. Review
  11. Review
  12. StopKB: a comprehensive knowledgebase for nonsense suppression therapies.Database : the journal of biological databases and curation · 2024
    Article
  13. Article
  14. Article
  15. Developing AAV-delivered nonsense suppressor tRNAs for neurological disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024
    Review
  16. Review
  17. Article
  18. Gene Dosage ofGenes · 2024
    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

3 authors at 2 institutions in 2 countries.

Pedro MoraisProQR Therapeutics, Zernikedreef 9, 2333 CK Leiden, The Netherlands.
Hironori AdachiDepartment of Biochemistry and Biophysics, Center for RNA Biology, University of Rochester Medical Center, 601 Elmwood Avenue, Rochester, NY 14642, USA.
Yi-Tao YuDepartment of Biochemistry and Biophysics, Center for RNA Biology, University of Rochester Medical Center, 601 Elmwood Avenue, Rochester, NY 14642, USA.
University of Rochester Medical Center · USProQR Therapeutics (Netherlands) · NL

Funding

Spliceosomal snRNA modification in Xenopus oocytesR01GM062937 · NIGMS · UNIVERSITY OF ROCHESTER · PI YU, YI-TAO · 2001 to 2009
$2.3M
Pseudouridine-mediated branch site recognition/selection during pre-mRNA splicingR01GM138387 · NIGMS · UNIVERSITY OF ROCHESTER · PI YU, YI-TAO · 2020 to 2023
$1.4M
NIGMS NIH HHS R01 GM062937NIGMS NIH HHS R01 GM138387NIH HHS CA241111
6 · The paper itself

Abstract

Nonsense mutations often result from single nucleotide substitutions that change a sense codon (coding for an amino acid) to a nonsense or premature termination codon (PTC) within the coding region of a gene. The impact of nonsense mutations is two-fold: (1) the PTC-containing mRNA is degraded by a surveillance pathway called nonsense-mediated mRNA decay (NMD) and (2) protein translation stops prematurely at the PTC codon, and thus no functional full-length protein is produced. As such, nonsense mutations result in a large number of human diseases. Nonsense suppression is a strategy that aims to correct the defects of hundreds of genetic disorders and reverse disease phenotypes and conditions. While most clinical trials have been performed with small molecules, there is an increasing need for sequence-specific repair approaches that are safer and adaptable to personalized medicine. Here, we discuss recent advances in both conventional strategies as well as new technologies. Several of these will soon be tested in clinical trials as nonsense therapies, even if they still have some limitations and challenges to overcome.

Indexed as

Codon, NonsenseClinical Trials as TopicGenetic Predisposition to DiseaseHumansNonsense Mediated mRNA DecayPolymorphism, Single NucleotidePrecision MedicineRNA, MessengerSmall Molecule LibrariesCodon, NonsenseRNA, MessengerSmall Molecule LibrariesADAR-catalyzed editingantisense oligobox H/ACA RNA-guided modificationCRISPR technologyNMDsmall moleculesstop codon read-throughsuppressor tRNAs

Identifiers

PMID32575694
PMCPMC7352488
OpenAlexW3035875832

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.