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Article

Readthrough compounds for nonsense mutations: bridging the translational gap.

Trends in molecular medicine - 1 Apr 2023

Spelier Sacha, van Doorn Eveline P M, van der Ent Cornelis K, Beekman Jeffrey M, Koppens Martijn A J

Abstract excerpt

Approximately 10% of all pathological mutations are nonsense mutations that are responsible for several severe genetic diseases for which no treatment regimens are currently available. The most widespread strategy for treating nonsense mutations is by enhancing ribosomal readthrough of premature termination codons (PTCs) to restore the production of the full-length protein. In the past decade several compounds...

Read the complete abstract on PubMed

Topics

Humans
Codon, Nonsense
Mutation
Ribosomes

Source

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 36828712
DOI: 10.1016/j.molmed.2023.01.004

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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