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本文引用的文献

1
Function of Nup98 subtypes and their fusion proteins, Nup98-TopIIβ and Nup98-SETBP1 in nuclear-cytoplasmic transport.核孔蛋白98(Nup98)亚型及其融合蛋白Nup98 - 拓扑异构酶IIβ(TopIIβ)和Nup98 - SET结合蛋白1(SETBP1)在核质运输中的功能
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Mutant Huntingtin Disrupts the Nuclear Pore Complex.突变型亨廷顿蛋白破坏核孔复合体。
Neuron. 2017 Apr 5;94(1):93-107.e6. doi: 10.1016/j.neuron.2017.03.023.
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Polyglutamine-Expanded Huntingtin Exacerbates Age-Related Disruption of Nuclear Integrity and Nucleocytoplasmic Transport.聚谷氨酰胺扩展的亨廷顿蛋白加剧了与年龄相关的核完整性破坏和核质运输紊乱。
Neuron. 2017 Apr 5;94(1):48-57.e4. doi: 10.1016/j.neuron.2017.03.027.
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Lentiviral Transfer of γ-Globin with Fusion Gene NUP98-HOXA10HD Expands Hematopoietic Stem Cells and Ameliorates Murine β-Thalassemia.携带融合基因NUP98-HOXA10HD的γ-珠蛋白慢病毒转导可扩增造血干细胞并改善小鼠β地中海贫血。
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Differential Disruption of Nucleocytoplasmic Trafficking Pathways by Rhinovirus 2A Proteases.鼻病毒2A蛋白酶对核质运输途径的差异性破坏
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6
Loss of Ranbp2 in motoneurons causes disruption of nucleocytoplasmic and chemokine signaling, proteostasis of hnRNPH3 and Mmp28, and development of amyotrophic lateral sclerosis-like syndromes.运动神经元中 Ranbp2 的缺失导致核质和趋化因子信号的破坏、hnRNPH3 和 Mmp28 的蛋白稳态以及类似肌萎缩侧索硬化症的综合征的发展。
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Nuclear pore complexes and regulation of gene expression.核孔复合体与基因表达调控
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8
NUP98 Fusion Proteins Interact with the NSL and MLL1 Complexes to Drive Leukemogenesis.核孔蛋白98融合蛋白与NSL和MLL1复合物相互作用以驱动白血病发生。
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Identification of a novel putative interaction partner of the nucleoporin ALADIN.核孔蛋白ALADIN的一种新型假定相互作用伴侣的鉴定。
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XPO1-dependent nuclear export is a druggable vulnerability in KRAS-mutant lung cancer.XPO1 依赖的核输出是 KRAS 突变型肺癌中的一个可药物靶向的弱点。
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核孔复合体在细胞功能障碍、衰老和疾病中的作用。

The roles of the nuclear pore complex in cellular dysfunction, aging and disease.

作者信息

Sakuma Stephen, D'Angelo Maximiliano A

机构信息

Development, Aging and Regeneration Program (DARe), Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.

Development, Aging and Regeneration Program (DARe), Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.

出版信息

Semin Cell Dev Biol. 2017 Aug;68:72-84. doi: 10.1016/j.semcdb.2017.05.006. Epub 2017 May 12.

DOI:10.1016/j.semcdb.2017.05.006
PMID:28506892
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5568450/
Abstract

The study of the Nuclear Pore Complex (NPC), the proteins that compose it (nucleoporins), and the nucleocytoplasmic transport that it controls have revealed an unexpected layer to pathogenic disease onset and progression. Recent advances in the study of the regulation of NPC composition and function suggest that the precise control of this structure is necessary to prevent diseases from arising or progressing. Here we discuss the role of nucleoporins in a diverse set of diseases, many of which directly or indirectly increase in occurrence and severity as we age, and often shorten the human lifespan. NPC biology has been shown to play a direct role in these diseases and therefore in the process of healthy aging.

摘要

对核孔复合体(NPC)、构成它的蛋白质(核孔蛋白)以及它所控制的核质运输的研究揭示了致病疾病发生和发展中一个意想不到的层面。在NPC组成和功能调控研究方面的最新进展表明,对这一结构的精确控制对于预防疾病的发生或发展是必要的。在此,我们讨论核孔蛋白在多种疾病中的作用,其中许多疾病随着我们年龄的增长,其发生率和严重程度会直接或间接地增加,并且常常缩短人类寿命。已证明NPC生物学在这些疾病中以及因此在健康衰老过程中发挥直接作用。