Huntingtin and the molecular pathogenesis of Huntington's disease.

Research output: Contribution to journalLiterature reviewpeer-review

377 Citations (Scopus)

Abstract

Huntington's disease (HD) is a late-onset neurodegenerative disorder that is caused by a CAG repeat expansion in the IT15 gene, which results in a long stretch of polyglutamine close to the amino-terminus of the HD protein huntingtin (htt). The normal function of htt, and the molecular mechanisms that contribute to the disease pathogenesis, are in the process of being elucidated. In this review, we outline the potential functions of htt as defined by the proteins with which it has been found to interact. We then focus on evidence that supports a role for transcriptional dysfunction and impaired protein folding and degradation as early events in disease pathogenesis.
Original languageEnglish
Pages (from-to)958 - 963
Number of pages6
JournalEMBO Reports
Volume5
Issue number10
DOIs
Publication statusPublished - Oct 2004

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