Nencki Institute of Experimental Biology, Polish Academy of Science, 02-093, Warsaw, Poland.
Transl Neurodegener. 2021 Jan 20;10(1):5. doi: 10.1186/s40035-020-00229-8.
The familial form of Parkinson's disease (PD) is linked to mutations in specific genes. The mutations in parkin are one of the most common causes of early-onset PD. Mitochondrial dysfunction is an emerging active player in the pathology of neurodegenerative diseases, because mitochondria are highly dynamic structures integrated with many cellular functions. Herein, we overview and discuss the role of the parkin protein product, Parkin E3 ubiquitin ligase, in the cellular processes related to mitochondrial function, and how parkin mutations can result in pathology in vitro and in vivo.
家族性帕金森病（PD）与特定基因突变有关。Parkin 突变是早发性 PD 的最常见原因之一。线粒体功能障碍是神经退行性疾病病理的一个新兴活跃参与者，因为线粒体是与许多细胞功能整合在一起的高度动态结构。在此，我们综述并讨论了 Parkin 蛋白产物 Parkin E3 泛素连接酶在与线粒体功能相关的细胞过程中的作用，以及 Parkin 突变如何导致体外和体内的病理。
