Article
Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice.
Human molecular genetics - 15 Mar 2002
Wheeler Vanessa C, Gutekunst Claire-Anne, Vrbanac Vladimir, Lebel Lori-Anne, Schilling Gabriele, Hersch Steven, Friedlander Robert M, Gusella James F, Vonsattel Jean-Paul, Borchelt David R, MacDonald Marcy E
Abstract excerpt
In Huntington's disease (HD), CAG repeats extend a glutamine tract in huntingtin to initiate the dominant loss of striatal neurons and chorea. Neuropathological changes include the formation of insoluble mutant N-terminal fragment, as nuclear/neuropil inclusions and filter-trap amyloid, which may either participate in the disease process or be a degradative by-product. In young Hdh knock-in mice, CAGs that expand...
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