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 ; ...
Fig. 1. TDP-43 structure and the mutation regions causing ALS.TDP-43, a 414 amino acid length protein, consists of an N-terminal domain (NTD), two RNA recognition motifs (RRM1 and RRM2), and a C-terminal glycine-rich region. Identified mutations in TDP-43 identified from sporadic and ...
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
ALS and FTD are pathologically defined by cytoplasmic aggregation and nuclear depletion of TAR DNA-binding protein 43 (TDP-43) in more than 97% of ALS cases and 45% of FTD cases4,5 (frontotemporal lobar degeneration (FTLD) due to TDP-43 proteinopathy (FTLD-TDP)). TDP-43 is an RNA-bin...
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...
TDP-43 in degenerative neurological diseases TDP-43 is a well-recognized neurodegenerative disease-related protein. In 2006, ubiquitinated and hyperphosphorylated TDP-43 was identified in both amyotrophic lateral sclerosis (ALS) and FTLD [3,44]. Subsequently, abnormal aggregation of TDP-43 has been ...