Macquarie Medical School, Macquarie University, Sydney, Australia.
Neuroscientist. 2024 Apr;30(2):214-228. doi: 10.1177/10738584221120182. Epub 2022 Sep 5.
Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease and is characterized by the degeneration of upper and lower motor neurons of the brain and spinal cord. ALS is also linked clinically, genetically, and pathologically to a form of dementia known as frontotemporal dementia (FTD). Identifying gene mutations that cause ALS/FTD has provided valuable insight into the disease process. Several ALS/FTD-causing mutations occur within proteins with roles in protein clearance systems. This includes ALS/FTD mutations in , which encodes the protein cyclin F: a component of a multiprotein E3 ubiquitin ligase that mediates the ubiquitylation of substrates for their timely degradation. In this review, we provide an update on the link between ALS/FTD mutations and neurodegeneration.
肌萎缩侧索硬化症（ALS）是最常见的运动神经元疾病，其特征是大脑和脊髓的上下运动神经元退化。ALS 还在临床上、遗传上和病理上与一种称为额颞叶痴呆（FTD）的痴呆症有关。确定导致 ALS/FTD 的基因突变，为疾病进程提供了有价值的见解。几种导致 ALS/FTD 的突变发生在蛋白质清除系统中的作用蛋白内。这包括 ALS/FTD 突变在, 其编码蛋白细胞周期蛋白 F：一种多蛋白 E3 泛素连接酶的组成部分，介导底物的泛素化，以使其及时降解。在这篇综述中，我们提供了 ALS/FTD 突变与神经退行性变之间联系的最新信息。
