Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia
- Masahiko Ajiro
- Tomonari Awaya
- Young Jin Kim
- Kei Iida
- Masatsugu Denawa
- Nobuo Tanaka
- Ryo Kurosawa
- Shingo Matsushima
- Saiko Shibata
- Tetsunori Sakamoto
- Rolenz Studer
- Adrian R. Krainer
- Masatoshi Hagiwara
Publication date
July 2021
DOI Publisher
Springer Science and Business Media LLC Journal
Nature CommunicationsAbstract
Familial dysautonomia is caused by splicing mutation of IKBKAP gene, which induces skipping of exon 20 and subsequent functional loss. Here, the authors report that a synthetic splice modulator RECTAS ameliorates pathogenic exon 20 skipping and shows therapeutic effects in cellular and animal models
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