Congenital hydrocephalus associated with abnormal subcommissural organ in mice lacking huntingtin in Wnt1 cell lineages.

@article{Dietrich2009CongenitalHA,
  title={Congenital hydrocephalus associated with abnormal subcommissural organ in mice lacking huntingtin in Wnt1 cell lineages.},
  author={Paula Dietrich and Revathi Shanmugasundaram and E Shuyu and Ioannis Dragatsis},
  journal={Human molecular genetics},
  year={2009},
  volume={18 1},
  pages={142-50}
}
Huntingtin (htt) is a 350 kDa protein of unknown function, with no homologies with other known proteins. Expansion of a polyglutamine stretch at the N-terminus of htt causes Huntington's disease (HD), a dominant neurodegenerative disorder. Although it is generally accepted that HD is caused primarily by a gain-of-function mechanism, recent studies suggest that loss-of-function may also be part of HD pathogenesis. Huntingtin is an essential protein in the mouse since inactivation of the mouse HD… CONTINUE READING
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