Most notably, TDP-43-expressing neuronal inclusions and C9orf72 mutations have emerged as the key pathological and genetic hallmarks, respectively, of ALS. In this review, we will discuss recent advances in modifiers of TDP-43 toxicity, with an emphasis on Ataxin-2, one of the most well-...
We have introduced the concept that TDP-43 is the convergence point for a range of upstream risk factors for ALS. Here we briefly review these genetic and environmental risk factors for the development of ALS, and for the development of TDP proteinopathy, and explore the potential for targeting...
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A Anna-Leigh Brown, Oscar G. Wilkins, Matthew J. Keuss, Sarah E. Hill, Matteo Zanovello, Weaverly Colleen Lee, Alexander Bampton, Flora C. Y. Lee, Laura Masino, Yue A. Qi, Sam Bryce-Smith, Ar...
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 ; ...
Catalog Number $185USDEach LS-E30372-0.05 Unit SizeQuantity 0.05 mg (200 µg/ml) 1 International (800) 227-6666 For Research Use Only Specifications Target TDP-43 / TARDBP Synonyms TARDBP | ALS10 | TAR DNA-binding protein-43 | TDP-43 | TAR DNA binding protein | TAR DNA-binding prot...
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...
Pathological forms of TDP-43 were first identified in 2006 when ALS and FTLD patients were found to have tau-negative, ubiquitin-positive cytoplasmic inclusion bodies [59,60,61]. The pathogenic mechanisms in these brains ultimately result in TDP-43 depletion from the nucleus, TDP-43 mislocalizati...
TDP-43 localization and DNA methylation status, possibly influencing RNA processing and splicing in affected motor neurons. A comprehensive review by Masala et al. highlighted the complexity of epigenetic alterations in ALS, reporting both hyper- and hypomethylated sites across different studies [65]. ...
The abnormal aggregation of TAR DNA-binding protein 43 kDa (TDP-43) in neurons and glia is the defining pathological hallmark of the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and multiple forms of frontotemporal lobar degeneration (FTLD)1,2. It is also common in other disease...
we generated transgenic mice that express wildtype human TDP-43 (TDP-43WT) or human TDP-43 carrying the G298S mutation (TDP-43G298S) that is associated with familial ALS [63], under the control of the Thy1.2 promoter (Fig.1A). Immunoblotting analysis indicates that total TDP-43 protein...