High quality screening of pharmacological chaperones for protein misfolding disorders

蛋白质错误折叠疾病药理学伴侣的高质量筛选

• 批准号: 462132-2013
• 负责人: BritzMcKibbin, Philip
• 金额: $ 1.82万
• 依托单位: McMaster University
• 依托单位国家: 加拿大
• 项目类别: Engage Grants Program
• 财政年份: 2013
• 资助国家: 加拿大
• 起止时间: 2013-01-01 至 2014-12-31
• 项目状态: 已结题
• 来源: https://www.nserc-crsng.gc.ca/ase-oro/Details-Detailles_eng.asp?id=542879
• 关键词: quality; screening; pharmacological; chaperones; protein

A variety of human diseases are related to protein misfolding (e.g., Alzheimer's disease), including genetic disorders that result in severe enzyme deficiency or aberrant protein function with devastating impacts on human health. For instance, phenylketonuria (or PKU) is one of the most common metabolic disorders that contribute to premature death and impaired mental development in affected children if left untreated. Thus, early detection and treatment intervention is critical for enhancing quality of life and reducing public healthcare expenditures that is central to newborn screening initiatives across Canada.

许多人类疾病都与蛋白质错误折叠有关(例如阿尔茨海默病)，包括导致严重酶缺乏或蛋白质功能异常的遗传疾病，对人类健康造成毁灭性影响。例如，苯丙酮尿症(或PKU)是最常见的代谢紊乱之一，如果不治疗，会导致受影响儿童的过早死亡和智力发育受损。因此，早期发现和治疗干预对于提高生活质量和减少公共医疗支出至关重要，而公共医疗支出是加拿大各地新生儿筛查计划的核心。