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]。
Given the widespread aggregation and accumulation of TDP-43 in FTD-ALS spectrum disorder, TDP-43 may have potential as a biomarker in these diseases. We therefore conducted a systematic review and meta-analysis to evaluate the diagnostic utility of TDP-43 detected in the cerebrospinal fluid (CSF...
cytoskeletal biomarkers like phosphorylated neurofilament heavy chain (pNFH) and NFL are already clinically used in ALS patients to predict survival, disease progression, and duration. Thus, in this review, we focus on the interaction of TDP-43 with the different cytoskeleton components ...
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:...
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 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 ...
The role of TDP-43 as a splicing repressor has recently received increased attention in light of the discovery that loss of TDP-43 function leads to inclusion of non-conserved cryptic exons in ALS/FTLD-TDP and AD cases [19,27,28,29,30,31,32,33,34]. The two most studied cryptic RNAs...
Peer review reports are available. Additional information Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Extended data figures and tables Extended Data Fig. 1 UNC13A and UNC13B are misspliced after TDP-43 knockdown...
TDP-43 exhibits stage-specific functions. In degenerative diseases, TDP-43 dysfunction typically occurs in middle to old age. Studies have indicated that the absence of TDP-43 can lead to age-related neuronal degeneration [112]. Comparisons among different-aged patients with ALS have revealed that...