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核孔功能障碍与神经退行性疾病。

Nuclear Pore Dysfunction in Neurodegeneration.

机构信息

Brain Science Institute, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.

Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.

出版信息

Neurotherapeutics. 2022 Jul;19(4):1050-1060. doi: 10.1007/s13311-022-01293-w. Epub 2022 Sep 7.

Abstract

The nuclear pore complex (NPC) is a large multimeric structure that is interspersed throughout the membrane of the nucleus and consists of at least 33 protein components. Individual components cooperate within the nuclear pore to facilitate selective passage of materials between the nucleus and cytoplasm while simultaneously performing pore-independent roles throughout the cell. NPC dysfunction is a hallmark of neurodegenerative disorders including Alzheimer's disease, Huntington's disease, and amyotrophic lateral sclerosis (ALS). NPC components can become mislocalized or altered in expression in neurodegeneration. These alterations in NPC structure are often detrimental to the neuronal function and ultimately lead to neuronal loss. This review highlights the importance of nucleocytoplasmic transport and NPC integrity and how dysfunction of such may contribute to neurodegeneration.

摘要

核孔复合体(NPC)是一种大型的多聚体结构,散布在细胞核的膜上,由至少 33 种蛋白质组成。各个组成部分在核孔内协作,促进核质间物质的选择性传递,同时在整个细胞中发挥核孔独立的作用。NPC 功能障碍是神经退行性疾病的标志,包括阿尔茨海默病、亨廷顿病和肌萎缩侧索硬化症(ALS)。NPC 成分在神经退行性变中可能会发生定位错误或表达改变。NPC 结构的这些改变通常对神经元功能有害,并最终导致神经元丧失。这篇综述强调了核质转运和 NPC 完整性的重要性,以及这种功能障碍如何导致神经退行性变。

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