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

Abstract excerpt

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....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic Neurodegenerative Diseases
• Share to Mitochondrial Function and Pathology
• Share to Neurological disorders and treatments