polyglutamine disease

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any disease of humans caused by the expansion of a CAG trinucleotide repeat in a gene. On expression, the region that contains the elongated stretch of glutamine repeats misfolds and forms antiparallel beta strands, with consequent production of nuclear and cytoplasmic inclusions. Examples include Huntington's disease, spinobulbar muscular atrophy, and various forms of spinocerebellar ataxia.

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