Article

Huntington’s disease onset is determined by length of uninterrupted CAG, not encoded polyglutamine, and is modified by DNA maintenance mechanisms

2019-01-24

Abstract excerpt

<h4>SUMMARY</h4> The effects of variable, glutamine-encoding, CAA interruptions indicate that a property of the uninterrupted HTT CAG repeat sequence, distinct from huntingtin’s polyglutamine segment, dictates the rate at which HD develops. The timing of onset shows no significant association with HTT cis -eQTLs but is influenced, sometimes in a sex-specific manner, by polymorphic variation at multiple DNA main...

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Literature Corpus work: cea16709-cc75-5df5-a702-1aef51ae2ffc
DOI: 10.1101/529768

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