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Literature DB >> 24773318

Therapeutics based on stop codon readthrough.

Kim M Keeling¹, Xiaojiao Xue, Gwen Gunn, David M Bedwell.

Abstract

Nonsense suppression therapy encompasses approaches aimed at suppressing translation termination at in-frame premature termination codons (PTCs, also known as nonsense mutations) to restore deficient protein function. In this review, we examine the current status of PTC suppression as a therapy for genetic diseases caused by nonsense mutations. We discuss what is currently known about the mechanism of PTC suppression as well as therapeutic approaches under development to suppress PTCs. The approaches considered include readthrough drugs, suppressor tRNAs, PTC pseudouridylation, and inhibition of nonsense-mediated mRNA decay. We also discuss the barriers that currently limit the clinical application of nonsense suppression therapy and suggest how some of these difficulties may be overcome. Finally, we consider how PTC suppression may play a role in the clinical treatment of genetic diseases caused by nonsense mutations.

Entities: Chemical Disease Gene Mutation Species

Keywords: nonsense mutation; nonsense suppression therapy; premature termination codons; readthrough

Mesh：

Substances：
Codon, Nonsense

Year: 2014 PMID： 24773318 PMCID： PMC5304456 DOI： 10.1146/annurev-genom-091212-153527

Source DB: PubMed Journal: Annu Rev Genomics Hum Genet ISSN： 1527-8204 Impact factor: 8.929

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