此外,CRISPR-Cas13对RNA翻译靶向的影响尚未被探讨。 近日,来自约翰霍普金斯大学公共卫生学院Jiou Wang教授团队的刘宏河博士及其他合作人员在Journal of Clinical Investigation发表题为CRISPR–Cas13d targeting suppresses repeat-associated non...
位于C9orf72 基因的非编码的区域的 GGGGCC 重复的一个大部分增加的数字作为二相关神经病学的混乱的领先的原因被识别了,家庭 amyotrophic 侧面的硬化(ALS ) 和 frontotemporal 痴呆(FTD ) .我们检验了包含 oligonucleotides,四条 guanine 道选择为最小的可能的模型形成 unimolecular 的 GGGGCCrepeat 的 G 四倍的形成...
约翰霍普金斯大学王继鸥及其研究团队长期致力于研究ALS/FTD的分子病理机制,对多种遗传型ALS/FTD做了大量深入研究。2023年2月22日,该研究团队在Neuron杂志发表题为DNA-initiated epigenetic cascades driven by C9orf72 hexanucleotide repea...
In C9+ FTD, PAF1 and LEO1 are upregulated and their expression positively correlates with the expression of repeat-containing C9orf72 transcripts. These data indicate that PAF1C activity is an important factor for transcription of the long, toxic repeat in C9+ FTD....
the role of this repeat in C9orf72 gene activity, protein binding, transcript foci formation, and translation of the C9orf72 product, including the noncanonical repeat-associated non-ATG translation (RAN translation) into pathologic dipeptide repeats, as well as any oligonucleotide repeat-based ...
Keywords: Pura;GGGGCCrepeat;ALS/FTD;neurotoxicity 前言 肌萎缩性脊髓侧索硬化症(ALS)和额颞叶痴呆(FTD)是两种致命的且呈年龄依赖的神经退行性疾病[1]。ALS 患者运动皮质,脑干,和脊髓的运动神经元发生退化,导致运动障碍,肌肉功能减弱,最后瘫痪[2]。这些运动神经元的损伤呈渐进性发展,ALS 患者通常在确诊的 3-5 ...
Genetic analysis revealed the hexanucleotide repeat expansion GGGGCC within the regulatory region of the gene C9orf72 as the most common cause of familial amyotrophic lateral sclerosis and the second most common cause of frontotemporal lobar degeneration. Since repeat expansions might cause RNA toxicity ...
然而其具体的发病机制至今不明。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...
We analyzed the GGGGCC repeat expansions of C9orf72 gene in patients with SCA3/MJD from mainland China to determine whether the C9orf72 gene plays a role in the pathogenesis of SCA3/MJD. In our study, there were no pathogenic repeats (>30 repeats) detected in either the patients or ...
1Purα修复GGGGCC六核苷酸重复扩增非编码RNA介导的神经细胞毒性硕士研究生:张瑜导师:**莲副教授华中科技大学同济医学院解剖学系组织胚胎学室武汉430030摘要肌萎缩性脊髓侧索硬化症(Amyotrophiclateralsclerosis,ALS)和额颞叶痴呆(Frontotemporaldementia,FTD)都是神经退行性疾病,均呈渐进性发展最终导致瘫痪或死亡,在临床表现、...