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Nuclear accumulation of polyglutamine disease proteins and neuropathology

There are nine inherited neurodegenerative disorders caused by polyglutamine (polyQ) expansion in various disease proteins. Although these polyglutamine proteins have different functions and are localized in different subcellular regions, all the polyQ diseases share a common pathological feature: t...

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Detalles Bibliográficos
Autores principales: Havel, Lauren S, Li, Shihua, Li, Xiao-Jiang
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2714308/
https://www.ncbi.nlm.nih.gov/pubmed/19575804
http://dx.doi.org/10.1186/1756-6606-2-21
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author Havel, Lauren S
Li, Shihua
Li, Xiao-Jiang
author_facet Havel, Lauren S
Li, Shihua
Li, Xiao-Jiang
author_sort Havel, Lauren S
collection PubMed
description There are nine inherited neurodegenerative disorders caused by polyglutamine (polyQ) expansion in various disease proteins. Although these polyglutamine proteins have different functions and are localized in different subcellular regions, all the polyQ diseases share a common pathological feature: the nuclear accumulation of polyQ disease proteins and the formation of inclusions. The nuclear accumulation of polyQ proteins in turn leads to gene transcriptional dysregulation and neuropathology. Here we will discuss potential mechanisms behind the nuclear accumulation of mutant polyQ proteins, since an understanding of how polyQ proteins accumulate in the nucleus could help elucidate the pathogenesis of these diseases and develop their treatment.
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spelling pubmed-27143082009-07-23 Nuclear accumulation of polyglutamine disease proteins and neuropathology Havel, Lauren S Li, Shihua Li, Xiao-Jiang Mol Brain Review There are nine inherited neurodegenerative disorders caused by polyglutamine (polyQ) expansion in various disease proteins. Although these polyglutamine proteins have different functions and are localized in different subcellular regions, all the polyQ diseases share a common pathological feature: the nuclear accumulation of polyQ disease proteins and the formation of inclusions. The nuclear accumulation of polyQ proteins in turn leads to gene transcriptional dysregulation and neuropathology. Here we will discuss potential mechanisms behind the nuclear accumulation of mutant polyQ proteins, since an understanding of how polyQ proteins accumulate in the nucleus could help elucidate the pathogenesis of these diseases and develop their treatment. BioMed Central 2009-07-03 /pmc/articles/PMC2714308/ /pubmed/19575804 http://dx.doi.org/10.1186/1756-6606-2-21 Text en Copyright © 2009 Havel et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review
Havel, Lauren S
Li, Shihua
Li, Xiao-Jiang
Nuclear accumulation of polyglutamine disease proteins and neuropathology
title Nuclear accumulation of polyglutamine disease proteins and neuropathology
title_full Nuclear accumulation of polyglutamine disease proteins and neuropathology
title_fullStr Nuclear accumulation of polyglutamine disease proteins and neuropathology
title_full_unstemmed Nuclear accumulation of polyglutamine disease proteins and neuropathology
title_short Nuclear accumulation of polyglutamine disease proteins and neuropathology
title_sort nuclear accumulation of polyglutamine disease proteins and neuropathology
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2714308/
https://www.ncbi.nlm.nih.gov/pubmed/19575804
http://dx.doi.org/10.1186/1756-6606-2-21
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