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Cell biology of DRPLA Nobuyuki NUKINA 1 1Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo Keyword: DRPLA , CAGリピート病 , ポリグルタミン pp.384-389
Published Date 1997/6/10
DOI https://doi.org/10.11477/mf.1431900956
  • Abstract
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Dentatorubral-pallidoluysian atrophy (DRPLA) is associated with expansion of an unstable CAG repeat. Using antibodies against the synthetic peptide corresponding to the sequence of DRPLA gene carboxyl terminus, we have identified the DRPLA gene product in normal human brains as a 190kDa protein and also found a 205kDa protein specifically in DRPLA brains. The apparent molecular weight deduced from SDS-PAGE is larger than that estimated from its amino acid sequence. Recent in vitro study suggested that the primary gene product itself has a smaller molecular weight than in vivo gene product has, but it is still larger that the estimated one, suggesting that its aberrant electrophoretic mobility may be due to the conformation of the gene product. Although one of the post-translational modification is phosphorylation, there is no difference between the degree of phosphorylation in abnormal and normal allele products. Immunohistochemically, the DRPLA gene product was observed mainly in cytoplasmic structures of neurons. These results and recent study of other CAG repeat diseases demonstrated the possibility that the expanded polyglutamine stretch may participate in the pathological process of the CAG repeat diseases.


Copyright © 1997, 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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