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专利概况
专利名称 MEANS AND METHODS TO TREAT TORSIN RELATED NEUROLOGICAL DISEASES
申请号 WOEP18083784 申请日
公开(公告)号 WO2019110728A1 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; CASCALHO Ana Catarina
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 neurological diseases characterized by a heterozygous or homozygous mutation in the TORSIN1A gene, even more particularly to dystonia (including DYT1 primary dystonia) and to congenital disorders characterized by severe arthrogryposis that might be accompanied with developmental delay, strabismus and tremor. The application provides inhibitors of phosphatidic acid phosphatase activity and medical uses of these inhibitors. Methods are disclosed to screen for medicaments that counteract the effects of TORSIN1A mutations.

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