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Molecular mechanisms of neurodegeneration in polyglutamine diseases Shoji TSUJI 1 1Department of Neurology, Brain Research Institute, Niigata University Keyword: ポリグルタミン病 , 神経細胞変性 , CAGリピート pp.941-945
Published Date 2001/12/10
DOI https://doi.org/10.11477/mf.1431901308
  • Abstract
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Unstable expansion of CAG trinucleotide repeats coding for polyglutamine stretches has been identified to be a new mechanism for at least 9 hereditary neurodegenerative diseases, which include Huntington disease, spinal and bulbar muscular atrophy (SBMA), spinocerebellar ataxia types 1, 2, 6, 7 and SCA 17, Machado-Joseph disease (MJD/SCA 3) and dentatorubral-pallidoluysian atrophy (DRPLA). Initial experiments after the discovery of causative genes demonstrated that expression of mutant proteins, particularly truncated proteins, containing expanded polyglutamine stretches led to aggregate body formation and apoptosis.


Copyright © 2001, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1882-1243 印刷版ISSN 0001-8724 医学書院

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