Polyglutamine neurodegenerative diseases and regulation of transcription: Assembling the puzzle

Brigit E. Riley, Harry T. Orr

Research output: Contribution to journalReview articlepeer-review

132 Scopus citations


The polyglutamine disorders are a class of nine neurodegenerative disorders that are inherited gain-of-function diseases caused by expansion of a translated CAG repeat. Even though the disease-causing proteins are widely expressed, specific collections of neurons are more susceptible in each disease, resulting in characteristic patterns of pathology and clinical symptoms. One hypothesis poses that altered protein function is fundamental to pathogenesis, with protein context of the expanded polyglutamine having key roles in disease-specific processes. This review will focus on the role of the disease-causing polyglutamine proteins in gene transcription and the extent to which the mutant proteins induce disruption of transcription.

Original languageEnglish (US)
Pages (from-to)2183-2192
Number of pages10
JournalGenes and Development
Issue number16
StatePublished - Aug 15 2006


  • Gene expression
  • Neurodegenerative disease
  • Polyglutamine
  • Transcription
  • Trinucleotide repeats


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