Multiple roles for the cytoskeleton in ALS.

Multiple roles for the cytoskeleton in ALS.
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细胞骨架在 ALS 中的多重作用。

DOI:
10.1016/j.expneurol.2022.114143
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发表时间:
2022-09
影响因子:
5.3
通讯作者:
Henty-Ridilla, Jessica L.
Henty-Ridilla, Jessica L.
中科院分区:
医学2区
文献类型:
--
作者:
Liu, Xinbei;Henty-Ridilla, Jessica L.

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肌萎缩侧索硬化症(amyotrophiclateralsclerosis,ALS)是一种进行性神经退行性疾病,通过经典的连锁分析和新的测序方法鉴定出60多个基因。然而,发病、治愈或有效治疗的明确机制尚不清楚。流行的话语将ALS相关基因编码的蛋白质分为四个破坏过程:蛋白质稳态,线粒体功能和ROS,核酸调节和细胞骨架动力学。令人惊讶的是,详细说明ALS中神经元细胞骨架的贡献的机制是最少探索的,尽管参与这些细胞过程。八个基因直接调节细胞骨架功能的特性,并且对运动神经元的健康和存活至关重要,包括:TUBA4A,SPAST KIF5A,DCTN1,NF,PRPH,ALS2和PFN1。在这里,我们回顾的属性和研究探索这些基因中的每一个对ALS的贡献。
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease caused by more than sixty genes identified through classic linkage analysis and new sequencing methods. Yet no clear mechanism of onset, cure, or effective treatment is known. Popular discourse classifies the proteins encoded from ALS-related genes into four disrupted processes: proteostasis, mitochondrial function and ROS, nucleic acid regulation, and cytoskeletal dynamics. Surprisingly, the mechanisms detailing the contribution of the neuronal cytoskeletal in ALS are the least explored, despite involvement in these cell processes. Eight genes directly regulate properties of cytoskeleton function and are essential for the health and survival of motor neurons, including: TUBA4A, SPAST KIF5A, DCTN1, NF, PRPH, ALS2, and PFN1. Here we review the properties and studies exploring the contribution of each of these genes to ALS.
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