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 repeat...
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...
There are a lot of expanded hexanucleotide GGGGCCrepeat in ALS/FTD patients with chromosome 9 open reading frame 72(C9ORF72).Expanded hexanucleotide GGGGCC repeat in a noncoding region ofC9ORF72 is the most common cause of frontotemporal dementia(FTD) and amyotrophic lateral sclerosis (ALS). ...
No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden. Amyotroph. Lateral. Scler. Frontotemporal. Degener. 14, 26e29.Akimoto C, Forsgren L, Linder J, et al. No GGGGCC- hexanucleotide repeat expansion in C9ORF72 in parkin- sonism patients in Sweden. Amy...
Purα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：李宏莲副教授 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（Amyotrophic lateral sclerosis, ALS）和额颞叶痴呆（Frontotemporal dementia，FTD）都是神经退行性疾病，均呈渐进性发展最终导致...
An intronic GGGGCC-hexanucleotide repeat expansion in C9ORF72 was recently identified as a major cause of amyotrophic lateral sclerosis and frontotemporal dementia. Some amyotrophic lateral sclerosis patients have signs of parkinsonism, and many parkinsonism patients develop dementia. In this study we exam...
R.R. holds a patent on methods to screen for the hexanucleotide repeat expansion in the C9ORF72 gene. Supplemental Information Download all supplementary files included with this articleWhat’s this? Download: Download Acrobat PDF file (2MB) Document S1. Figures S1–S4, Tables S1–S4, and ...
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...
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 ...
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、...