Article
Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia.
Nature communications - 23 Jul 2021
Ajiro Masahiko, Awaya Tomonari, Kim Young Jin, Iida Kei, Denawa Masatsugu, Tanaka Nobuo, Kurosawa Ryo, Matsushima Shingo, Shibata Saiko, Sakamoto Tetsunori, Studer Lorenz, Krainer Adrian R, Hagiwara Masatoshi
Abstract excerpt
Approximately half of genetic disease-associated mutations cause aberrant splicing. However, a widely applicable therapeutic strategy to splicing diseases is yet to be developed. Here, we analyze the mechanism whereby IKBKAP-familial dysautonomia (FD) exon 20 inclusion is specifically promoted by a small molecule splice modulator, RECTAS, even though IKBKAP-FD exon 20 has a suboptimal 5' splice site due to the...
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