Article
Phenotypic effects of expanded ataxin-1 polyglutamines with interruptions in vitro.
Brain research bulletin - 1 Jan 2000
Calabresi V, Guida S, Servadio A, Jodice C
Abstract excerpt
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...
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