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Molecular biology of polyglutamine diseases

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Owecki M., Kozubski W.
Postępy Higieny i Medycyny Doświadczalnej
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2002
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vol. 56
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issue 6
779-788
EN
Polyglutamine diseases include at least 9 neurodegenerative disorders: Huntigton?s disease (HD), dentatorubral pallidoluysian atrophy (DRPLA), spinobulbar muscular atrophy (SBMA), and spinocerebellar ataxia (SCA) type: 1-3, 6-7 and 17, each caused by a CAG-trinucleotide repeat expansion in a different gene. The poly-CAG sequence is translated into a polyglutamine stretch in the respective proteins. This review discusses mutual molecular features of polyglutamine diseases. The formation of intranuclear inclusions, recruitment of physiological polyglutamine proteins as well as a potential role of molecular chaperones, capsases, and inhibition of histone acetyltransferases-depended transcription in cellular pathogenesis are considered.
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