3.为分析ATXN2中间扩增在ALS中的体内效应,研究人员生成了携带人类ATXN2基因的小鼠模型,分别携带Q22和Q33重复扩增,并进一步与ATXN2小鼠与携带人TDP-43M337V变异的转基因小鼠进行交配,获得同时携带ATXN2重复扩增和TDP-43M337V变异的小鼠(ATXN2Q33/+...
为分析ALS患者睡眠节律紊乱的分子机制,近期发表在Science Advances杂志的一项研究使用果蝇模型来评估TDP-43对睡眠节律的影响,为神经退行性疾病的睡眠障碍提供了新见解。 这项研究使用了多种果蝇菌株,包括Iso31(常用野生型)、Daughterless-GS(用于特定基因表达)...
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 ...
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 tr
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密切相关。因此,有关Atx2的积聚和募集作用以及致病性是值得深入探讨的科学问题。在该研究中,研究人员通过生化实验和细胞免疫荧光实验探究了PolyQ延伸的Atx2所形成的积聚物的...
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...
ALS: Amyotrophic lateral sclerosis Ataxin2mono-Tb: Monoclonal ATXN2 antibody, Tb labeled Ataxin2poly-Tb: Polyclonal ATXN2 antibody, Tb labeled ATXN2: Ataxin-2 (protein) Ax: SCA2 patient CN: iPSC-derived cortical neuron Co: Control patient CSF: Cerebrospinal fluid DRPLA: Dentatorubr...