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The pathogenesis of CHCHD10 in familial ALS

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
项目状态：
已结题
起止时间：
2016-03-01 至 2019-03-01
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

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中文摘要
翻译
线粒体功能障碍与某些家族性ALS有关，但线粒体参与的证据并不令人信服。在过去的两年里，编码真正线粒体蛋白的CHCHD10突变已经被证实是一种基因突变。
英文摘要
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
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