Neurobiology of Disease & Regeneration | Motor Systems | Control of Gene Expression | Neurogenetics
Generation of knockin mouse models expressing 7Q- or 140Q-htt with precise deletions of their proline-rich regions
Scott O Zeitlin*, Michelle Neveklovksa, Margot K Williams, Elizabeth Goodman, Erin BD Clabough
*Corresponding author: Scott O Zeitlin
University of Virginia School of Medicine, Charlottesville, VA, USA
F1000Posters 2012, 3: 530 (slide presentation) [English]
Slide Presentation [18.35 MB]
Neuroscience 2009 , 17 - 21 Oct 2009, 303.10
The proline-rich region (PRR) within huntingtin (htt), the protein product of the HD gene, is essential for normal htt function, and can also modulate the toxic properties of an expanded polyglutamine (polyQ) stretch within mutant htt. Here, using knockin mouse models, we show that the PPR region in htt may play a critical role in Huntington’s disease.
Deletion of the PRR in wild-type- and 140Q-htt affects S13-P htt species, possibly because of increased oligomerization and/or other protein modifications.
No relevant competing interests disclosed.
Hereditary Disease Foundation, -
NIH NINDS, NS043466
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