Expanded polyglutamine in the Machado–Joseph disease protein induces cell death in vitro and in vivo View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1996-06

AUTHORS

H Ikeda, M Yamaguchi, S Sugai, Y Aze, S Narumiya, A Kakizuka

ABSTRACT

Recently, we identified a novel gene, MJD1, which contains an expanded CAG triplet repeat in Machado-Joseph disease. Here we report the induction of apoptosis in cultured cells expressing a portion of the MJD1 gene that includes the expanded CAG repeats. Cell death occurs only when the CAG repeat is translated into polyglutamine residues, which apparently precipitate in large covalently modified forms. We also created ataxic transgenic mice by expressing the expanded polyglutamine stretch in Purkinje cells. Our results demonstrate the potential involvement of the expanded polyglutamine as the common aetiological agent for inherited neurodegenerative diseases with CAG expansions. More... »

PAGES

196-202

References to SciGraph publications

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng0696-196

    DOI

    http://dx.doi.org/10.1038/ng0696-196

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1041851639

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/8640226


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    RDF/XML is a standard XML format for linked data.

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