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A novel polyglutamine disease: SCA17 (TBP disease) Koichiro NAKAMURA 1 1Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo Keyword: polyglutamine , TBP , parkinsonism pp.954-964
Published Date 2001/12/10
DOI https://doi.org/10.11477/mf.1431901310
  • Abstract
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Genetic etiologies of at least 20% of autosomal dominant spinocerebellar ataxias (SCAs) have yet to be clarified. We have recently identified a novel SCA form in nine patients from four Japanese pedigrees through the screening for expanded polyglutamine tracts by Western blotting analysis with a monoclonal 1C2 antibody that recognizes specifically pathological polyglutamine tracts. This disease is caused by an abnormal CAG/CAA expansion in the TATA-binding protein gene (TBP), a general transcription initiation factor. Consequently, it has been added to the group of polyglutamine diseases.


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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