MOLECULAR BASIS OF AMYOTROPHIC LATERAL SCLEROSIS

肌萎缩侧索硬化症的分子基础

• 批准号: 6658541
• 负责人: TERRENCE P LO
• 金额: $ 14.32万
• 依托单位: STANFORD UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2002
• 资助国家: 美国
• 起止时间: 2002-03-01 至 2003-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6658541
• 关键词: bioimaging /biomedical imaging; biomaterials; biomedical resource; nervous system; proteins; radiography; structural biology

Point mutations in human Cu, Zn superoxide dismutase (HSOD) have been linked to the neurodegenerative disease amyotrophic lateral sclerosis (ALS), also know as Lou Gehrig's disease. ALS is a progressive paralytic disorder resulting from the degeneration of large motor neurons in the brain and spinal cord, and is usually fatal within five years of onset. We are probing the structural basis of this disease by determining the three-dimensional structures of several mutant HSOD's. In conjunction with these structural studies, we are investigating the stability and functional properties of these mutant proteins to fully characterize their role in ALS.

人类铜、锌超氧化物歧化酶 (HSOD) 的点突变 与神经退行性疾病肌萎缩侧索硬化症有关 硬化症 (ALS)，也称为卢伽雷氏病。 ALS 是一种 由退化引起的进行性麻痹症 大脑和脊髓中的大型运动神经元，通常是致命的 发病后五年内。 我们正在探索其结构基础 通过确定三维结构来诊断这种疾病 几个突变的 HSOD。 结合这些结构研究， 我们正在研究这些的稳定性和功能特性 突变蛋白以充分表征其在 ALS 中的作用。