Article
The HD mutation causes progressive lethal neurological disease in mice expressing reduced levels of huntingtin.
Human molecular genetics - 15 Oct 2001
Auerbach W, Hurlbert M S, Hilditch-Maguire P, Wadghiri Y Z, Wheeler V C, Cohen S I, Joyner A L, MacDonald M E, Turnbull D H
Abstract excerpt
Huntingtin is an essential protein that with mutant polyglutamine tracts initiates dominant striatal neurodegeneration in Huntington's disease (HD). To assess the consequences of mutant protein when huntingtin is limiting, we have studied three lines of compound heterozygous mice in which both copies of the HD gene homolog (Hdh) were altered, resulting in greatly reduced levels of huntingtin with a normal human...
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