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| 肌萎缩侧索硬化症相关基因突变与疾病动物模型 | |
| 引用本文： | 张丽,张连峰. 肌萎缩侧索硬化症相关基因突变与疾病动物模型[J]. 中国比较医学杂志, 2017, 27(10): 89-95 |
| 作者姓名： | 张丽 张连峰 |
| 作者单位： | 中国医学科学院, 医学实验动物研究所, 北京协和医学院比较医学中心, 卫计委人类疾病比较医学重点实验室, 北京 100021,中国医学科学院, 医学实验动物研究所, 北京协和医学院比较医学中心, 卫计委人类疾病比较医学重点实验室, 北京 100021;中国医学科学院神经科学中心, 北京 100730 |
| 基金项目： | 国家自然科学基金（81571222）；中央级公益科研院所基本科研业务费（2016ZX310039）。 |
| 摘 要： | 肌萎缩侧索硬化症是一种累进性神经退行疾病,以上、下运动神经元选择性退化和凋亡为特征,引发瘫痪、最终导致死亡。大量引发ALS的基因突变被鉴定出,包括FUS/TLS、EPHA4、SS18 L1、ATXN2和C9ORF72等基因,这些基因突变的发现拓宽了RNA调节参与ALS病理生成的理解。本文对家族性ALS相关的基因突变及现有的ALS啮齿类动物模型进行总结概括。 |
| 关 键 词： | 肌萎缩侧索硬化症 基因突变 动物模型 |
| 收稿时间： | 2017-03-01 |
Amyotrophic lateral sclerosis-associated gene mutations and ALS animal models |
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| ZHANG Li and ZHANG Lian-feng. Amyotrophic lateral sclerosis-associated gene mutations and ALS animal models[J]. Chinese Journal of Comparative Medicine, 2017, 27(10): 89-95 | |
| Authors: | ZHANG Li and ZHANG Lian-feng |
| Affiliation: | Institute of Laboratory Animal Sciences, Chinese Academy of Medical Sciences & Comparative Medical Center, Peking Union Medical College, Key Laboratory of Human Disease Comparative Medicine, National Health and Family Planning Commission of P. R. C, Beijing 100021, China and Institute of Laboratory Animal Sciences, Chinese Academy of Medical Sciences & Comparative Medical Center, Peking Union Medical College, Key Laboratory of Human Disease Comparative Medicine, National Health and Family Planning Commission of P. R. C, Beijing 100021, China;Neuroscience Center, Chinese Academy of Medical Sciences, Beijing 100730, China |
| Abstract: | Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by a selective loss of upper and lower motor neurons that lead to paralysis and even death. Mutations in a large number of genes, including FUS/TLS, EPHA4, SS18 L1, ATXN2 and C9ORF72, are identified to the casual genes of ALS, which broadens our understanding of the role of RNA modulation in ALS pathogenesis. This review summarized ALS-associated genes and the related ALS rodent models. |
| Keywords: | Amyotrophic lateral sclerosis Gene mutation Animal model |
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