Research article 2012 Reviewed

Rescue of nonsense mutations by amlexanox in human cells

Sara Gonzalez-Hilarion, Terence Beghyn, Jieshuang Jia, Nadège Debreuck, Gonzague Berte, Kamel Mamchaoui, Vincent Mouly, Dieter C Gruenert, Benoit Déprez, Fabrice Lejeune

Orphanet Journal of Rare Diseases2012-12Springer Science and Business Media LLC

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Abstract via Europe PMC

Background Nonsense mutations are at the origin of many cancers and inherited genetic diseases. The consequence of nonsense mutations is often the absence of mutant gene expression due to the activation of an mRNA surveillance mechanism called nonsense-mediated mRNA decay (NMD). Strategies to rescue the expression of nonsense-containing mRNAs have been developed such as NMD inhibition or nonsense mutation readthrough. Methods Using a dedicated screening system, we sought molecules capable to block NMD. Additionally, 3 cell lines derived from patient cells and harboring a nonsense mutation were used to study the effect of the selected molecule on the level of nonsense-containing mRNAs and the synthesis of proteins from these mutant mRNAs. Results We demonstrate here that amlexanox, a drug used for decades, not only induces an increase in nonsense-containing mRNAs amount in treated cells, but also leads to the synthesis of the full-length protein in an efficient manner. We also demonstrated that these full length proteins are functional. Conclusions As a result of this dual activity, amlexanox may be useful as a therapeutic approach for diseases caused by nonsense mutations.

Evidence snapshot note

This reference is cited by the validated MVA · BUB1B evidence snapshot (data as of 2026-10-17) as Amlexanox rescue in human cells.

Model in the source: Human 6CFSMEo- CFTR nonsense cells
Where in the publication: Figure 6
Cited by evidence records: MVA-AMLEXANOX-010

The note describes how the snapshot used the source; it is not a summary of the publication's conclusions.

Identifiers and provenance

DOI: 10.1186/1750-1172-7-58
PMID: 22938201
PMCID: PMC3562214
URL: https://doi.org/10.1186/1750-1172-7-58
Metadata from: Crossref, Europe PMC, OpenAlex, fetched 2026-10-24
License (as declared by the source): cc by
Open access: Yes
Added: 2026-10-24 from the MVA evidence snapshot

In the library

Collections: MVA Hackathon 2026 — BUB1B
Tags: None yet
Keywords from the source: amlexanox, nonsense mutation, nonsense-mediated mRNA decay, genetic disorders, drug repurposing, patient-derived cell lines