专利名称 | MEANS AND METHODS TO TREAT DYSTONIA | ||
申请号 | EP17728809 | 申请日 | |
公开(公告)号 | EP3464595A1 | 公开(公告)日 | |
申请(专利权)人 | VIB vzw; Katholieke Universiteit Leuven K U Leuven R D | 发明人 | GOODCHILD Rose; GRILLET Micheline |
专利来源 | 国家知识产权局 | 转化方式 | |
摘要 |
The present application relates to the field of neurological diseases, particularly to dystonia, even more particularly to primary dystonia, most particularly DYT1 primary dystonia. It is disclosed that the DYT1 dystonia causative mutation in TORSIN1A leads to hyperactivation of LIPIN. The invention provides substances modulating LIPIN function, in particular RNA molecules inhibiting LIPIN function and medical uses of these LIPIN inhibitors. Methods are disclosed to screen for medicaments that counteract the effects of TORSIN1A mutation. |
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