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...
在肌萎缩性侧索硬化-额颞叶痴呆(ALS-FTD)谱系疾病患者中,观察到睡眠节律紊乱,然其具体机制尚不明确。TAR DNA结合蛋白43 (TDP-43)在ALS的病理过程中发生定位改变,并在细胞质异常聚集,这是ALS的主要病理特征,同时也与其他神经变性疾病(如FTD、阿尔兹海默症...
Intermediate-length repeat expansions in ATAXIN-2 (ATXN2) are the strongest genetic risk factor for amyotrophic lateral sclerosis (ALS). At the molecular level, ATXN2 intermediate expansions enhance TDP-43 toxicity and pathology. However, whether this triggers ALS pathogenesis at the cellular and ...
Atx2是一种N-端含有一段22-23个连续谷氨酰胺的RNA结合蛋白,在细胞中发挥多种功能,包括参与RNA的转录后加工和翻译、脂质代谢、Ca2+离子的稳态平衡以及内质网的动态性调控。研究发现,PolyQ序列的扩增会导致自身发生积聚,而Atx2的积聚与脊髓小脑共济失调II型(SCA2) 以及肌萎缩侧索硬化症(ALS) 等多种神经退行性疾病...
Intermediate-length repeat expansions in ATAXIN-2 (ATXN2) are the strongest genetic risk factor for amyotrophic lateral sclerosis (ALS). At the molecular level, ATXN2 intermediate expansions enhance TDP-43 toxicity and pathology. However, whether this triggers ALS pathogenesis at the cellular and fu...
Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease) (PMID: 20740007). Long expansions of this tract result in spinocerebellar ataxia-2 (SCA2), an autosomal dominantly inherited, neurodegenerative disorder (PMID: 29427103)....
ATXN2 expansions associated with ALS were reported to be interrupted by at least one CAA triplet [PMID:21537950] 实验方案 Product Specific Protocols WB protocol for Ataxin 2 antibody 68316-1-Ig Download protocol IHC protocol for Ataxin 2 antibody 68316-1-Ig Download protocol IF protocol for ...
Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease) (PMID: 20740007). Long expansions of this tract result in spinocerebellar ataxia-2 (SCA2), an autosomal dominantly inherited, neurodegenerative disorder (PMID: 29427103)....
Ataxin-2 is a well-known RNA binding protein, which causes neurodegenerative diseases such as Amyotrophic lateral sclerosis (ALS) and Spinocerebellar ataxia type 2 (SCA2). Normally, Ataxin-2 has a 22 CAG repeat expansions encoding polyglutamine (polyQ) tract at the N-terminus, whereas intermediate...
This patient did not suffer from SCA2 [56]. Recently, a 9-bp duplication within ATXN2 was identified which led to significant decrease in the age at onset in both SCA3 and C9orf72-ALS [57]. Therefore, the establishment of sensitive immunoassays to determine total and polyQ-expanded ATXN2...