Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias.

@article{Stevanin1996ScreeningFP,
  title={Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias.},
  author={Giovanni Stevanin and Yvon Trottier and G{\'e}raldine Cancel and Alexandra D{\"u}rr and Guido David and Olivier Didierjean and Katrin Buerk and Georges Imbert and Fr{\'e}d{\'e}ric Saudou and M Abada-Bendib and Isabelle Gourfinkel-An and Ali Benomar and Nacer Eddine Abbas and Th. Klockgether and Djamel Grid and Yves Agid and J. L. Mandel and Alexis Brice},
  journal={Human molecular genetics},
  year={1996},
  volume={5 12},
  pages={1887-92}
}
Expansion of trinucleotide CAG repeats coding for polyglutamine has been implicated in five neurodegenerative disorders, including spinocerebellar ataxia (SCA) 1 and SCA3 or Machado-Joseph disease (SCA3/MJD), two forms of type I autosomal dominant cerebellar ataxias (ADCA). Using the 1C2 antibody which specifically recognizes large polyglutamine tracts, particularly those that are expanded, we recently reported the detection of proteins with pathological glutamine expansions in lymphoblasts… CONTINUE READING

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