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MOYENS ET MÉTHODES POUR TRAITER DES MALADIES NEUROLOGIQUES LIÉES À LA TORSINE
专利权人:
VIB vzw;Katholieke Universiteit Leuven, K.U.Leuven R&D
发明人:
申请号:
EP18816009.7
公开号:
EP3720961A1
申请日:
2018.12.06
申请国别(地区):
EP
年份:
2020
代理人:
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.
来源网站:
中国工程科技知识中心
来源网址:
http://www.ckcest.cn/home/

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