Phenotypic effects of expanded ataxin-1 polyglutamines with interruptions in vitro.

@article{Calabresi2001PhenotypicEO,
  title={Phenotypic effects of expanded ataxin-1 polyglutamines with interruptions in vitro.},
  author={Valentina Calabresi and Serena Guida and Antonio Servadio and Carla Jodice},
  journal={Brain research bulletin},
  year={2001},
  volume={56 3-4},
  pages={337-42}
}
Spinocerebellar ataxia type 1 is a neurodegenerative disease caused by expansion of an uninterrupted glutamine repeat in ataxin-1 protein. Protein aggregation and immunoreactivity to 1C2 monoclonal antibody are two distinct pathognomonic features of expanded ataxin-1, as well as of other polyglutamine disorders. Rare cases of non-affected elderly subjects carrying expanded ataxin-1 alleles were found in random population. However, in these alleles the glutamine stretch was interrupted by… CONTINUE READING

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