Article
Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain.
Human molecular genetics - 15 May 2007
Shelbourne Peggy F, Keller-McGandy Christine, Bi Wenya Linda, Yoon Song-Ro, Dubeau Louis, Veitch Nicola J, Vonsattel Jean Paul, Wexler Nancy S, Arnheim Norman, Augood Sarah J
Abstract excerpt
Huntington disease is caused by the expansion of a CAG repeat encoding an extended glutamine tract in a protein called huntingtin. Here, we provide evidence supporting the hypothesis that somatic increases of mutation length play a role in the progressive nature and cell-selective aspects of HD pathogenesis. Results from micro-dissected tissue and individual laser-dissected cells obtained from human HD cases and...
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