Article
Optimized approach for the identification of highly efficient correctors of nonsense mutations in human diseases.
PloS one - 1 Jan 2017
Benhabiles Hana, Gonzalez-Hilarion Sara, Amand Séverine, Bailly Christine, Prévotat Anne, Reix Philippe, Hubert Dominique, Adriaenssens Eric, Rebuffat Sylvie, Tulasne David, Lejeune Fabrice
Abstract excerpt
About 10% of patients with a genetic disease carry a nonsense mutation causing their pathology. A strategy for correcting nonsense mutations is premature termination codon (PTC) readthrough, i.e. incorporation of an amino acid at the PTC position during translation. PTC-readthrough-activating molecules appear as promising therapeutic tools for these patients. Unfortunately, the molecules shown to induce PTC...
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