Use of an aminoglycoside for nonsense mutation suppression and the treatment of disease
申请人:PTC Therapeutics, Inc.
公开号:US10555960B2
公开(公告)日:2020-02-11
Methods of using and pharmaceutical compositions comprising (2R,3S,4R,5R,6S)-5-amino-6-(((1R,2S,3S,4R,6S)-4,6-diamino-3-(((2R,3R,4R,5R)-3,5-dihydroxy-5-methyl-4-(methylamino)tetrahydro-2H-pyran-2- yl)oxy)-2-hydroxycyclohexyl)oxy)-2-(hydroxymethyl)tetrahydro-2H-pyran-3,4-diol are disclosed, including methods of treating or preventing a nonsense mutation mediated disease associated with premature translation termination or a premature stop codon resulting from a germline or somatic nonsense mutation.
使用包含(2R,3S,4R,5R,6S)-5-氨基-6-(((1R,2S,3S,4R,6S)-4,6-二氨基-3-(((2R,3R,4R、5R)-3,5-二羟基-5-甲基-4-(甲基氨基)四氢-2H-吡喃-2-基)氧基)-2-羟基环己基)氧基)-2-(羟甲基)四氢-2H-吡喃-3、4-二醇的方法,包括治疗或预防无义突变介导的、与种系或体细胞无义突变导致的过早翻译终止或过早终止密码子有关的疾病的方法。