"Creating a multiplex assay of variant effects for proprotein convertase subtilisin/kexin type 9, an enzyme implicated in coronary artery disease"

“对前蛋白转化酶枯草杆菌蛋白酶/kexin 9 型（一种与冠状动脉疾病有关的酶）的变异效应进行多重测定”

• 批准号: 428697
• 负责人: Axakova Anna
• 金额: $ 1.27万
• 依托单位: University of Toronto
• 依托单位国家: 加拿大
• 项目类别: Studentship Programs
• 财政年份: 2019
• 资助国家: 加拿大
• 起止时间: 2019-12-01 至 2020-12-01
• 项目状态: 已结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=428697&lang=en
• 关键词: Cardiovascular Disease; Cholesterol Synthesis Pathway; Gain-Of-Function Mutations; Loss-Of-Function Mutations; Low Density Lipoprotein Pathway; Machine Learning; Multiplexed Assays Of Variant Effect; Personalized Medicine; Variant Effect Map; Variants Of

"The risk of coronary artery disease is increased by a high amount of circulating low density lipoprotein (LDL). LDL is cleared from the bloodstream by low density lipoprotein receptors (LDLR) expressed on the surface of hepatocytes. Proprotein convertase

循环中大量的低密度脂蛋白会增加患冠状动脉疾病的风险。肝细胞表面表达的低密度脂蛋白受体会将低密度脂蛋白从血液中清除。原蛋白转换酶