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The molecular basis of dominantly inherited spinocerebellar ataxia Akira KAKIZUKA 1 1The Fourth Department (Molecular Medical Science),Osaka Bioscience Institute Keyword: ポリグルタミン病 , CAGリピート , 神経細胞死 , PMLbody , SEK1 pp.993-998
Published Date 2000/12/10
DOI https://doi.org/10.11477/mf.1431901214
  • Abstract
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To date, 8 inherited neurodegenerative disorders have been identified to be caused by the expansion of CAG triplet repeats encoding for polyglutamines, in the responsible genes. In the neurons of patient brains affected by these disorders, protein aggregates have been identified especially as nuclear inclusions, composed mainly of portions of the responsible gene product containing the expanded polyglutamine region.


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

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