Nuclear pore dysfunction and disease: a complex opportunity

被引：9

作者：

Fare, Charlotte M. ^{[1
,2
]}

Rothstein, Jeffrey D. ^{[1
,2
,3
,4
]}

机构：

[1] Johns Hopkins Univ, Dept Neurol, Baltimore, MD USA

[2] Johns Hopkins Univ, Brain Sci Inst, Baltimore, MD USA

[3] Johns Hopkins Univ, Dept Neurol, Bldg 855 North Wolfe St,Room 270,2nd Floor, Baltimore, MD 21205 USA

[4] Johns Hopkins Univ, Brain Sci Inst, Bldg 855 North Wolfe St,Room 270,2nd Floor, Baltimore, MD 21205 USA

来源：

NUCLEUS | 2024年 / 15卷 / 01期

关键词：

Neurodegenerative disease; nuclear pore complex; nucleocytoplasmic transport; nucleoporin; nuclear envelope; therapeutics; AMYOTROPHIC-LATERAL-SCLEROSIS; RNA-BINDING PROTEINS; FRONTOTEMPORAL LOBAR DEGENERATION; C9ORF72 REPEAT EXPANSION; PRION-LIKE DOMAINS; TRIPLE-A-SYNDROME; NUCLEOCYTOPLASMIC TRANSPORT DEFECTS; LOSS-OF-FUNCTION; MESSENGER-RNA; PHASE-SEPARATION;

D O I：

10.1080/19491034.2024.2314297

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

The separation of genetic material from bulk cytoplasm has enabled the evolution of increasingly complex organisms, allowing for the development of sophisticated forms of life. However, this complexity has created new categories of dysfunction, including those related to the movement of material between cellular compartments. In eukaryotic cells, nucleocytoplasmic trafficking is a fundamental biological process, and cumulative disruptions to nuclear integrity and nucleocytoplasmic transport are detrimental to cell survival. This is particularly true in post-mitotic neurons, where nuclear pore injury and errors to nucleocytoplasmic trafficking are strongly associated with neurodegenerative disease. In this review, we summarize the current understanding of nuclear pore biology in physiological and pathological contexts and discuss potential therapeutic approaches for addressing nuclear pore injury and dysfunctional nucleocytoplasmic transport.

引用

页数：30

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