The pathogenesis of CHCHD10 in familial ALS

CHCHD10在家族性ALS中的发病机制

• 批准号: 346450
• 负责人: Shoubridge Eric A
• 金额: $ 27.29万
• 依托单位: Montreal Neurological Institute-Hospital
• 依托单位国家: 加拿大
• 项目类别: Operating Grants
• 财政年份: 2016
• 资助国家: 加拿大
• 起止时间: 2016-03-01 至 2019-03-01
• 项目状态: 已结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=346450&lang=en
• 关键词: Amyotrophic Lateral Sclerosis; Coiled Helix Coiled Helix Proteins; Frontotemporal Dementia; Ips Cells; Mitochondrial Disease; Motor Neurons; Myopathy; Oxidative Phosphorylation; Spinal Muscular Atrophy

Mitochondrial dysfunction has been implicated in some familial forms of ALS, but the evidence for mitochondrial involvement has not been compelling. In the last two years mutations in CHCHD10, which codes for a bona fide mitochondrial protein, have been r

线粒体功能障碍与某些家族性肌萎缩侧索硬化症有关，但线粒体参与的证据并不令人信服。在过去的两年里，编码一种真正的线粒体蛋白的CHCHD10的突变已经被发现。