Nuclear pore dysfunction and disease: a complex opportunity

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 bet...

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Main Authors: Charlotte M. Fare, Jeffrey D. Rothstein
Format: Article
Language:English
Published: Taylor & Francis Group 2024-12-01
Series:Nucleus
Subjects:
Online Access:https://www.tandfonline.com/doi/10.1080/19491034.2024.2314297
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author Charlotte M. Fare
Jeffrey D. Rothstein
author_facet Charlotte M. Fare
Jeffrey D. Rothstein
author_sort Charlotte M. Fare
collection DOAJ
description 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.
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spelling doaj-art-2c12c367ce224c1fba66e78eb8f949c32025-08-20T02:30:42ZengTaylor & Francis GroupNucleus1949-10341949-10422024-12-0115110.1080/19491034.2024.2314297Nuclear pore dysfunction and disease: a complex opportunityCharlotte M. Fare0Jeffrey D. Rothstein1Department of Neurology and Brain Science Institute, Johns Hopkins University, Baltimore, MD, USADepartment of Neurology and Brain Science Institute, Johns Hopkins University, Baltimore, MD, USAThe 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.https://www.tandfonline.com/doi/10.1080/19491034.2024.2314297Neurodegenerative diseasenuclear pore complexnucleocytoplasmic transportnucleoporinnuclear envelopetherapeutics
spellingShingle Charlotte M. Fare
Jeffrey D. Rothstein
Nuclear pore dysfunction and disease: a complex opportunity
Nucleus
Neurodegenerative disease
nuclear pore complex
nucleocytoplasmic transport
nucleoporin
nuclear envelope
therapeutics
title Nuclear pore dysfunction and disease: a complex opportunity
title_full Nuclear pore dysfunction and disease: a complex opportunity
title_fullStr Nuclear pore dysfunction and disease: a complex opportunity
title_full_unstemmed Nuclear pore dysfunction and disease: a complex opportunity
title_short Nuclear pore dysfunction and disease: a complex opportunity
title_sort nuclear pore dysfunction and disease a complex opportunity
topic Neurodegenerative disease
nuclear pore complex
nucleocytoplasmic transport
nucleoporin
nuclear envelope
therapeutics
url https://www.tandfonline.com/doi/10.1080/19491034.2024.2314297
work_keys_str_mv AT charlottemfare nuclearporedysfunctionanddiseaseacomplexopportunity
AT jeffreydrothstein nuclearporedysfunctionanddiseaseacomplexopportunity