生物
RNA剪接
核糖核蛋白
清脆的
RNA结合蛋白
异质核核糖核蛋白
基因
分子生物学
信使核糖核酸
基因表达
胚胎干细胞
Cas9
肌萎缩侧索硬化
选择性拼接
基因靶向
细胞生物学
遗传学
核糖核酸
病理
医学
疾病
作者
Yamin Zhang,Jing Zhu,Yaozhang Dai,Liuzhong Wang,Rui Liu,Xiao Guo
标识
DOI:10.1016/j.scr.2022.102734
摘要
Fused in Sarcoma (FUS) gene encodes FUS RNA binding protein, a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein complex, which is involved in pre-mRNA splicing and the export of fully processed mRNA to the cytoplasm, and it has been implicated in regulation of gene expression, maintenance of genomic integrity and mRNA/microRNA processing. FUS gene mutations result in amyotrophic lateral sclerosis and Liposarcoma. This heterozygous FUS-Q290X knock in hESC line will be a valuable tool to investigate the disease mechanisms of amyotrophic lateral sclerosis and Liposarcoma.
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