Huntington’s Disease: The Past, Present, and Future Search for Disease Modifiers

@inproceedings{Clabough2013HuntingtonsDT,
  title={Huntington’s Disease: The Past, Present, and Future Search for
Disease Modifiers},
  author={Erin B. D. Clabough},
  booktitle={The Yale journal of biology and medicine},
  year={2013}
}
Huntington's disease (HD) is an autosomal dominant genetic disorder that specifically causes neurodegeneration of striatal neurons, resulting in a triad of symptoms that includes emotional, cognitive, and motor disturbances. The HD mutation causes a polyglutamine repeat expansion within the N-terminal of the huntingtin (Htt) protein. This expansion causes aggregate formation within the cytosol and nucleus due to the presence of misfolded mutant Htt, as well as altered interactions with Htt's… CONTINUE READING
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Deletion of the huntingtin proline-rich region does not significantly affect normal huntingtin function in mice

  • M Neveklovska, EB Clabough, S. Zeitlin
  • J Huntingtons Dis
  • 2012
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