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Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development

Around 11% of all known gene lesions causing human genetic diseases are nonsense mutations that introduce a premature stop codon (PTC) into the protein-coding gene sequence. Drug-induced PTC readthrough is a promising therapeutic strategy for treating hereditary diseases caused by nonsense mutations...

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Autores principales: Li, Shan, Li, Juan, Shi, Wenjing, Nie, Ziyan, Zhang, Shasha, Ma, Fengdie, Hu, Jun, Chen, Jianjun, Li, Peiqiang, Xie, Xiaodong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10296333/
https://www.ncbi.nlm.nih.gov/pubmed/37371567
http://dx.doi.org/10.3390/biom13060988
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author Li, Shan
Li, Juan
Shi, Wenjing
Nie, Ziyan
Zhang, Shasha
Ma, Fengdie
Hu, Jun
Chen, Jianjun
Li, Peiqiang
Xie, Xiaodong
author_facet Li, Shan
Li, Juan
Shi, Wenjing
Nie, Ziyan
Zhang, Shasha
Ma, Fengdie
Hu, Jun
Chen, Jianjun
Li, Peiqiang
Xie, Xiaodong
author_sort Li, Shan
collection PubMed
description Around 11% of all known gene lesions causing human genetic diseases are nonsense mutations that introduce a premature stop codon (PTC) into the protein-coding gene sequence. Drug-induced PTC readthrough is a promising therapeutic strategy for treating hereditary diseases caused by nonsense mutations. To date, it has been found that more than 50 small-molecular compounds can promote PTC readthrough, known as translational readthrough-inducing drugs (TRIDs), and can be divided into two major categories: aminoglycosides and non-aminoglycosides. This review summarizes the pharmacodynamics and clinical application potential of the main TRIDs discovered so far, especially some newly discovered TRIDs in the past decade. The discovery of these TRIDs brings hope for treating nonsense mutations in various genetic diseases. Further research is still needed to deeply understand the mechanism of eukaryotic cell termination and drug-induced PTC readthrough so that patients can achieve the greatest benefit from the various TRID treatments.
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spelling pubmed-102963332023-06-28 Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development Li, Shan Li, Juan Shi, Wenjing Nie, Ziyan Zhang, Shasha Ma, Fengdie Hu, Jun Chen, Jianjun Li, Peiqiang Xie, Xiaodong Biomolecules Review Around 11% of all known gene lesions causing human genetic diseases are nonsense mutations that introduce a premature stop codon (PTC) into the protein-coding gene sequence. Drug-induced PTC readthrough is a promising therapeutic strategy for treating hereditary diseases caused by nonsense mutations. To date, it has been found that more than 50 small-molecular compounds can promote PTC readthrough, known as translational readthrough-inducing drugs (TRIDs), and can be divided into two major categories: aminoglycosides and non-aminoglycosides. This review summarizes the pharmacodynamics and clinical application potential of the main TRIDs discovered so far, especially some newly discovered TRIDs in the past decade. The discovery of these TRIDs brings hope for treating nonsense mutations in various genetic diseases. Further research is still needed to deeply understand the mechanism of eukaryotic cell termination and drug-induced PTC readthrough so that patients can achieve the greatest benefit from the various TRID treatments. MDPI 2023-06-14 /pmc/articles/PMC10296333/ /pubmed/37371567 http://dx.doi.org/10.3390/biom13060988 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Li, Shan
Li, Juan
Shi, Wenjing
Nie, Ziyan
Zhang, Shasha
Ma, Fengdie
Hu, Jun
Chen, Jianjun
Li, Peiqiang
Xie, Xiaodong
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development
title Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development
title_full Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development
title_fullStr Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development
title_full_unstemmed Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development
title_short Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development
title_sort pharmaceuticals promoting premature termination codon readthrough: progress in development
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10296333/
https://www.ncbi.nlm.nih.gov/pubmed/37371567
http://dx.doi.org/10.3390/biom13060988
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