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Cell biology of spinocerebellar ataxia

Ataxia is a neurological disorder characterized by loss of control of body movements. Spinocerebellar ataxia (SCA), previously known as autosomal dominant cerebellar ataxia, is a biologically robust group of close to 30 progressive neurodegenerative diseases. Six SCAs, including the more prevalent S...

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Detalles Bibliográficos
Autor principal: Orr, Harry T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3328388/
https://www.ncbi.nlm.nih.gov/pubmed/22508507
http://dx.doi.org/10.1083/jcb.201105092
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author Orr, Harry T.
author_facet Orr, Harry T.
author_sort Orr, Harry T.
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description Ataxia is a neurological disorder characterized by loss of control of body movements. Spinocerebellar ataxia (SCA), previously known as autosomal dominant cerebellar ataxia, is a biologically robust group of close to 30 progressive neurodegenerative diseases. Six SCAs, including the more prevalent SCA1, SCA2, SCA3, and SCA6 along with SCA7 and SCA17 are caused by expansion of a CAG repeat that encodes a polyglutamine tract in the affected protein. How the mutated proteins in these polyglutamine SCAs cause disease is highly debated. Recent work suggests that the mutated protein contributes to pathogenesis within the context of its “normal” cellular function. Thus, understanding the cellular function of these proteins could aid in the development of therapeutics.
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spelling pubmed-33283882012-10-16 Cell biology of spinocerebellar ataxia Orr, Harry T. J Cell Biol Reviews Ataxia is a neurological disorder characterized by loss of control of body movements. Spinocerebellar ataxia (SCA), previously known as autosomal dominant cerebellar ataxia, is a biologically robust group of close to 30 progressive neurodegenerative diseases. Six SCAs, including the more prevalent SCA1, SCA2, SCA3, and SCA6 along with SCA7 and SCA17 are caused by expansion of a CAG repeat that encodes a polyglutamine tract in the affected protein. How the mutated proteins in these polyglutamine SCAs cause disease is highly debated. Recent work suggests that the mutated protein contributes to pathogenesis within the context of its “normal” cellular function. Thus, understanding the cellular function of these proteins could aid in the development of therapeutics. The Rockefeller University Press 2012-04-16 /pmc/articles/PMC3328388/ /pubmed/22508507 http://dx.doi.org/10.1083/jcb.201105092 Text en © 2012 Orr This article is distributed under the terms of an Attribution–Noncommercial–Share Alike–No Mirror Sites license for the first six months after the publication date (see http://www.rupress.org/terms). After six months it is available under a Creative Commons License (Attribution–Noncommercial–Share Alike 3.0 Unported license, as described at http://creativecommons.org/licenses/by-nc-sa/3.0/).
spellingShingle Reviews
Orr, Harry T.
Cell biology of spinocerebellar ataxia
title Cell biology of spinocerebellar ataxia
title_full Cell biology of spinocerebellar ataxia
title_fullStr Cell biology of spinocerebellar ataxia
title_full_unstemmed Cell biology of spinocerebellar ataxia
title_short Cell biology of spinocerebellar ataxia
title_sort cell biology of spinocerebellar ataxia
topic Reviews
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3328388/
https://www.ncbi.nlm.nih.gov/pubmed/22508507
http://dx.doi.org/10.1083/jcb.201105092
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