肌萎缩性侧索硬化(Amyotrophic lateral sclerosis, ALS)是一种成人发病的神经退行性疾病,以上、下运动神经元进行性变性丢失为主要特征。现有研究证据表明,ATAXIN-2(ATXN2)基因中等长度的CAG重复扩增显著增加ALS发病风险,并促进TDP43病理改变。有趣的...
With the development of disease protein-lowering therapies like siRNA or antisense oligonucleotides (ASO) in polyQ diseases, the soluble disease protein itself represents a promising target-based molecular marker to measure protein lowering under therapies (target engagement). Therefore, for several polyQ...