公开(公告)号：US20100317830A1

公开(公告)日：2010-12-16

申请号：US12833175

申请日：2010-07-09

申请人： LAURENT DESIRE

发明人： LAURENT DESIRE

IPC分类号： C07K7/06 ,  C07K14/00

CPC分类号： C12N9/6421 ,  A61K38/00

摘要： The present invention relates generally to the fields of genetics, biochemistry, medicinal chemistry and medicine. The present invention more particularly discloses the identification of a human gene variant involved in neuropathological conditions, and methods for the diagnosis, prevention and treatment of such diseases and related disorders, as well as for the screening of therapeutically active drugs. The present invention relates to catalytically active beta-secretase (Memapsin2, BACE) variants, and nucleic acids encoding them. The invention is useful in the identification of agents that inhibit the activity of a particular BACE isoform and thus agents and therapies affecting the genesis, development or progression of neuropathological conditions, including Alzheimer's disease and dementia.

摘要翻译： 本发明一般涉及遗传学，生物化学，药物化学和医学领域。 本发明更具体地公开了鉴定涉及神经病理学病症的人基因变体，以及用于诊断，预防和治疗这些疾病和相关疾病以及用于筛选治疗活性药物的方法。 本发明涉及催化活性β-分泌酶（Memapsin2，BACE）变体和编码它们的核酸。 本发明可用于鉴定抑制特定BACE同种型的活性的药剂，因此可用于影响神经病理学病症（包括阿尔茨海默病和痴呆）的发生，发展或进展的药剂和疗法。