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The structure of pathogenic huntingtin exon 1 defines the bases of its aggregation propensity - Nature Structural & Molecular Biology
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Huntington's disease is a neurodegenerative disorder caused by a CAG expansion in the first exon of the HTT gene, resulting in an extended polyglutamine (poly-Q) tract in huntingtin (httex1). The structural changes occurring to the poly-Q when increasing its length remain poorly understood due to its intrinsic flexibility and the strong compositional bias.
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