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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo.

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.[1]

References

  1. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Ikeda, H., Yamaguchi, M., Sugai, S., Aze, Y., Narumiya, S., Kakizuka, A. Nat. Genet. (1996) [Pubmed]
 
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