PTC124 targets genetic disorders caused by nonsense mutations.


Nonsense mutations promote premature translational termination and cause anywhere from 5-70% of the individual cases of most inherited diseases. Studies on nonsense-mediated cystic fibrosis have indicated that boosting specific protein synthesis from <1% to as little as 5% of normal levels may greatly reduce the severity or eliminate the principal… (More)


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@article{Welch2007PTC124TG, title={PTC124 targets genetic disorders caused by nonsense mutations.}, author={Ellen M. Welch and Elisabeth R. Barton and Jin Zhuo and Yuki Tomizawa and Westley J. Friesen and Panayiota Trifillis and Sergey V. Paushkin and Meenal J. Patel and Christopher R. Trotta and Seongwoo Hwang and Richard G Wilde and Gary M. Karp and James Takasugi and Guangming Chen and Stephen W. Jones and Hongyu Ren and Young-Choon Moon and Donald Corson and Anthony A Turpoff and J. A. Campbell and Michael Morgan Conn and Atiyya R Khan and Neil G Almstead and Jean Hedrick and Anna Mollin and Nicole Risher and Marla L Weetall and Shirley Yeh and Arthur A Branstrom and Joseph M. Colacino and John Babiak and William D Ju and Samit Hirawat and Valerie J. Northcutt and Langdon L. Miller and Phyllis Spatrick and Feng He and Masataka Kawana and H. S. Feng and Allan Jacobson and Stuart W. Peltz and H Lee Sweeney}, journal={Nature}, year={2007}, volume={447 7140}, pages={87-91} }