研究发现,CRISPR-Cas13d可以被优化以特异性地靶向C9orf72-ALS病人细胞中的GGGGCC重复RNA,并显著减少源自GGGGCC重复RNA的多聚二肽重复蛋白的翻译。 在这项研究中,研究人员首先构建了绿色荧光蛋白报告系统并比较了Cas13b和Cas13d靶向GGGGCC...
通过ATAC-seq和ChIP实验发现,(GGGGCC)n的异常扩增导致C9orf72启动子区的染色体结构和表观遗传修饰异常。进一步研究证实,敲降DAXX,能过纠正(GGGGCC)n扩增突变导致的染色体异常,从而上调正常条件下和应激条件下的 C9orf72转录表达。更重要...
MBNL1, a splicing factor that is sequestered in myotonic dystrophy patients by binding to expanded r(CUG)n repeat hairpins, does not bind the C9orf72 repeats, but the splicing factor ASF/SF2 can bind the r(GGGGCC)n repeat. Because multimolecular G-quadruplexes are enhanced by repeat length...
An expanded GGGGCC hexanucleotide of more than 30 repeats (termed (G4C2)30+) within C9orf72 is the most prominent mutation in familial frontotemporal degeneration (FTD) and amyotrophic lateral sclerosis (ALS) (termed C9+). Through an unbiased large-scale screen of (G4C2)49-expressing Drosop...
[r(GGGGCC)n binder 1a]化源网提供r(GGGGCC)n binder 1aCAS号70173-34-1,r(GGGGCC)n binder 1aMSDS及其说明、性质、英文名、生产厂家、作用/用途、分子量、密度、沸点、熔点、结构式等。CAS号查询r(GGGGCC)n binder 1a上化源网,专业又轻松。
RNA of the expanded repeat (r(GGGGCC)exp) forms nuclear foci or undergoes repeat-associated non-ATG (RAN) translation, producing “c9RAN proteins.” Since neutralizing r(GGGGCC)exp could inhibit these potentially toxic events, we sought to identify small-molecule binders of r(GGGGCC)exp. ...
摘要: 目的 检测中国内地家族性肌萎缩侧索硬化(fALS)患者9号染色体开放阅读框72(C9ORF72)基因六核苷酸(GGGGCC)中度重复扩增(重复数为20 ~ 30)的发生率,分析其临床表型并探讨C9ORF72基因中度重复对中国内地fALS患者的意义.方法 对2007-2013年就诊于北京大学第三医院的62例fALS患者进行临床资料收集并提取DNA,检测C9...
SCA3/MJD patients with intermediate/intermediate or short/intermediate genotype (short: <7 repeats; intermediate: 7-30 repeats) of the GGGGCC repeats had an earlier onset compared with those with short/short genotype. The presence of the intermediate allele of the GGGGCC repeats in the patients ...
已有研究发现GGGGCC六核苷酸重复扩增抑制下游基因转录,且GGGGCC六核苷酸重复扩增非编码RNA (r(GGGGCC)n)可导致神经退行性变。本研究的目的是进一步探讨GGGGCC六核苷酸重复扩增突变对神经元的损伤作用及其可能的机制。我们构建野生型质粒pEGFP-(GGGGCC)3(3个六核苷酸重复片段)和突变型质粒pEGFP-(GGGGCC)30 (30个六...
肌萎缩侧索硬化是一种神经退行性疾病,由人类基因组中第9号染色体上某一位点的基因中GGGGCC(G4)重复序列的异常扩增导致基因表达水平下降而引起。下列相关分析正确的是( ) A. 人类基因组测序时需测定两条9号染色体中DNA的碱基序列 B. 基因中G4的异常扩增将导致染色体片段重复而发生染色体变异 C. 该病可能是G4...