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- W1999821323 abstract "A small molecule forces the protein-translation machinery to overlook the signals that would otherwise result in its premature termination. Genuine stop signs are, however, read and obeyed. Many inherited diseases result from premature termination during translation of a messenger RNA into protein; one such disease is muscular dystrophy. Welch et al. now report that a small molecule, PTC124, enables the translation machinery to bypass sites that cause premature termination, but still terminate normally at the end of the mRNA. In human and mouse cells, this drug restores normal translation of the gene that is mutated in muscular dystrophy, and it restores muscle function in the mdx mouse model for the human disease. This work offers the hope that similar drugs might be used to target nonsense mutations and restore protein function in a wide variety of diseases. PTC124 is now undergoing clinical trials in muscular dystrophy and cystic fibrosis patients." @default.
- W1999821323 created "2016-06-24" @default.
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- W1999821323 date "2007-04-22" @default.
- W1999821323 modified "2023-09-25" @default.
- W1999821323 title "Ignore the nonsense" @default.
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- W1999821323 doi "https://doi.org/10.1038/nature05715" @default.
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