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专利概况
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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