Article
PTC124 targets genetic disorders caused by nonsense mutations.
Nature - 3 May 2007
Welch Ellen M, Barton Elisabeth R, Zhuo Jin, Tomizawa Yuki, Friesen Westley J, Trifillis Panayiota, Paushkin Sergey, Patel Meenal, Trotta Christopher R, Hwang Seongwoo, Wilde Richard G, Karp Gary, Takasugi James, Chen Guangming, Jones Stephen, Ren Hongyu, Moon Young-Choon, Corson Donald, Turpoff Anthony A, Campbell Jeffrey A, Conn M Morgan, Khan Atiyya, Almstead Neil G, Hedrick Jean, Mollin Anna, Risher Nicole, Weetall Marla, Yeh Shirley, Branstrom Arthur A, Colacino Joseph M, Babiak John, Ju William D, Hirawat Samit, Northcutt Valerie J, Miller Langdon L, Spatrick Phyllis, He Feng, Kawana Masataka, Feng Huisheng, Jacobson Allan, Peltz Stuart W, Sweeney H Lee
Abstract excerpt
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 manifestations of disease. To address the need for a drug capable...
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