帕金
生物
诱导多能干细胞
泛素连接酶
基因亚型
突变
细胞生物学
细胞培养
克隆(Java方法)
基因剔除小鼠
干细胞
遗传学
泛素
胚胎干细胞
疾病
帕金森病
基因
病理
医学
作者
Meng Zhang,David P. Ibañez,Wenxia Fan,Hao Liu,Xiaofen Zhong,Xiwei Wang,Yingying Li,Mazid Md. Abdul,Wenjuan Li,Yunpan Li,Carl Ward,Shuhan Chen,Dongye Wang,Baoming Qin,Miguel A. Esteban,Ping Zhao,Zhiwei Luo
标识
DOI:10.1016/j.scr.2019.101602
摘要
Loss of function mutations in PARK2 (encoding PARKIN) cause autosomal recessive Parkinson's disease (PD), which often manifests at a juvenile age. Molecular and biochemical studies show that PARKIN functions as an E3 ubiquitin ligase controlling mitochondrial homeostasis. Yet, the exact mechanisms are unclear due to the use of sub-optimal models including cancer cells and fibroblasts. We have generated a PARK2 knockout (KO) isogenic cell line using a well-characterized induced pluripotent stem cell (iPSC) clone with good differentiation potential. This cell line lacks the expression of all PARKIN isoforms and is valuable for elucidating the role of PARK2 mutations in PD.
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