Article

Combining Translation Readthrough Inducing Drugs and Nonsense Mediated Decay Pathway Inhibition to Rescue of CFTRW1282X in Cystic Fibrosis Cell Model System

2024-06-29

Abstract excerpt

Nonsense mutations affect about 11% of patients with Cystic Fibrosis and produce a premature termination codon in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) mRNA causing early termination of the polypeptide translation. A potential therapy for nonsense mutations allows small molecules to overcome the premature termination codon (PTC) by a readthrough mechanism leading to the synthesis of a complete...

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Literature Corpus work: 1898f6d3-695e-5ec9-9f66-6941465ece64
DOI: 10.20944/preprints202406.2061.v1

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