有时候核苷酸会重复扩增,扩增过多时就会导致一些神经系统疾病,例如肌萎缩侧索硬化症(ALS)的主要遗传因素就是C9ORF72基因中GGGGCC六核苷酸重复序列的扩增[1],亨廷顿氏病和多种形式的脊髓小脑性共济失调则与CAG重复扩增有关[2]。
This review summarizes the mechanisms underlying the pathogenesis of ALS by ubiquitination of TDP-43 protein.Yi Dong[1]Department of Neurology Huashan Hospital Fudan University Shanghai 200040 ChinaYan Chen神经免疫与神经炎症(英文版)Dong Y, Chen Y. The role of ubiquitinated TDP-43 in amyotrophic ...
These findings suggest that SLCP could be a promising strategy to induce E2 expression for the treatment of ALS and FTLD. 显示全部 2024-12-31·Prion Mutations in human prion-like domains: pathogenic but not always amyloidogenic Review 作者: Ventura, Salvador ; García-Pardo, Javier ; ...
Thus, in this review, we focus on the interaction of TDP-43 with the different cytoskeleton components such as actin filaments, neurofilaments, and microtubules as well as their associated proteins as one aspect in the complex pathogenesis of ALS. 展开 关键词:...
(ALS), frontotemporal lobar degeneration (FTLD), and Alzheimer's disease (AD). This comprehensive review explores the multifaceted roles of TDP-43 in both physiological and pathological contexts. We delve into TDP-43's crucial functions in RNA metabolism, including splicing regulation, mRNA ...
Amyotrophic lateral sclerosis (ALS) was initially thought to be associated with oxidative stress when it was first linked to mutant superoxide dismutase 1 (SOD1). The subsequent discovery of ALS-linked genes functioning in RNA processing and proteostasis raised the question of how different biological...
(ALS), frontotemporal lobar degeneration with ubiquitin-positive, tau- and α-synuclein-negative inclusions (FTLD-U) and Alzheimer's disease (AD), many reports on the medical aspects of TDP-43 have been published. Here, we summarize the current literature on TDP-43, focusing on recent studie...
ALS FTD Motor neuron disease Protein degradation Small molecule TDP-43 1. Introduction Motor Neuron Disease (MND) is the umbrella term used for a group of neurodegenerative conditions including amyotrophic lateral sclerosis (ALS), progressive bulbar palsy (PBP), primary lateral sclerosis (PLS) and ...
In this review, we compare the prion-like mechanisms of TDP-43 to the clinical and biological nature of ALS in order to investigate how this protein could be responsible for some of the characteristic properties of the disease. 展开 关键词:...
TAR DNA-binding protein-43 (TDP-43) is a highly conserved, ubiquitously expressed nuclear protein that was recently identified as the disease protein in frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U) and amyotrophic lateral sclerosis (ALS). Pathogenic TDP-43...