Article
PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model.
Proceedings of the National Academy of Sciences of the United States of America - 12 Feb 2008
Du Ming, Liu Xiaoli, Welch Ellen M, Hirawat Samit, Peltz Stuart W, Bedwell David M
Abstract excerpt
Nonsense mutations inactivate gene function and are the underlying cause of a large percentage of the individual cases of many genetic disorders. PTC124 is an orally bioavailable compound that promotes readthrough of premature translation termination codons, suggesting that it may have the potential to treat genetic diseases caused by nonsense mutations. Using a mouse model for cystic fibrosis (CF), we show that...
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