Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

@article{Imbert1996CloningOT,
  title={Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats},
  author={Georges Imbert and Fr{\'e}d{\'e}ric Saudou and Ga{\"e}l Yvert and Didier Devys and Yvon Trottier and J. -W. Garnier and Chantal Weber and Jean-Louis Mandel and G{\"e}raldine Cancel and Nacer Eddine Abbas and Alexandra D{\"u}rr and Olivier Didierjean and Giovanni Stevanin and Yves Agid and Alexis Brice},
  journal={Nature Genetics},
  year={1996},
  volume={14},
  pages={285-291}
}
Two forms of the neurodegenerative disorder spinocerebellar ataxia are known to be caused by the expansion of a CAG (polyglutamine) trinucleotide repeat. By screening cDNA expression libraries, using an antibody specific for polyglutamine repeats, we identified six novel genes containing CAG stretches. One of them is mutated in patients with spinocerebellar ataxia linked to chromosome 12q (SCA2). This gene shows ubiquitous expression and encodes a protein of unknown function. Normal SCA2… CONTINUE READING
Highly Influential
This paper has highly influenced 15 other papers. REVIEW HIGHLY INFLUENTIAL CITATIONS

Citations

Publications citing this paper.
Showing 1-10 of 252 extracted citations

Similar Papers

Loading similar papers…