首页 / 院系成果 / 成果详情页

Mitochondrial respiratory complex IV deficiency recapitulates amyotrophic lateral sclerosis 期刊论文

编号：

2E8066E5B56BAAE3C7541EAB6B4F996F
作者：

Cheng, Man#^[1]Lu, Dan^[2,3];Li, Kexin^[1];Wang, Yan^[1];Tong, Xiwen^[4];Qi, Xiaolong^[2,3];Yan, Chuanzhu(焉传祝)^[5,6]Ji, Kunqian(纪坤乾)^[5,6]Wang, Junlin^[7];Wang, Wei^[4];Lv, Huijiao^[2,3,8,9];Zhang, Xu^[2,3];Kong, Weining^[8,9];Zhang, Jian^[4];Ma, Jiaxin^[8,9];Li, Keru^[2,3];Wang, Yaheng^[2,3];Feng, Jingyu^[4];Wei, Panpan^[4];Li, Qiushuang^[4];Shen, Chengyong^[10];Fu, XiangDong^[11];Ma, Yuanwu*^[2,3,8,9]Zhang, Xiaorong*^[1,4]
语种：

英文
期刊：

NATURE NEUROSCIENCE ISSN：1097-6256 2025 年 ; 2025 MAR 11
收录：
摘要：

Amyotrophic lateral sclerosis (ALS) is categorized into similar to 10% familial and similar to 90% sporadic cases. While familial ALS is caused by mutations in many genes of diverse functions, the underlying pathogenic mechanisms of ALS, especially in sporadic ALS (sALS), are largely unknown. Notably, about half of the cases with sALS showed defects in mitochondrial respiratory complex IV (CIV). To determine the causal role of this defect in ALS, we used transcription activator-like effector-based mitochondrial genome editing to introduce mutations in CIV subunits in rat neurons. Our results demonstrate that neuronal CIV deficiency is sufficient to cause a number of ALS-like phenotypes, including cytosolic TAR DNA-binding protein 43 redistribution, selective motor neuron loss and paralysis. These results highlight CIV deficiency as a potential cause of sALS and shed light on the specific vulnerability of motor neurons, marking an important advance in understanding and therapeutic development of sALS.
推荐引用方式
GB/T 7714：

Cheng Man,Lu Dan,Li Kexin, et al. Mitochondrial respiratory complex IV deficiency recapitulates amyotrophic lateral sclerosis [J].NATURE NEUROSCIENCE,2025.
APA：

Cheng Man,Lu Dan,Li Kexin,Wang Yan,&Zhang Xiaorong.(2025).Mitochondrial respiratory complex IV deficiency recapitulates amyotrophic lateral sclerosis .NATURE NEUROSCIENCE.
MLA：

Cheng Man, et al. "Mitochondrial respiratory complex IV deficiency recapitulates amyotrophic lateral sclerosis" .NATURE NEUROSCIENCE(2025).
入库时间：

4/1/2025 12:06:17 PM
更新时间：

4/1/2025 12:06:17 PM

浏览次数：22  下载次数：0

分享到：

浏览次数：22

下载次数：0

打印次数：0