Article
A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington's disease CAG knock-in mice.
PloS one - 1 Jan 2013
Hölter Sabine M, Stromberg Mary, Kovalenko Marina, Garrett Lillian, Glasl Lisa, Lopez Edith, Guide Jolene, Götz Alexander, Hans Wolfgang, Becker Lore, Rathkolb Birgit, Rozman Jan, Schrewed Anja, Klingenspor Martin, Klopstock Thomas, Schulz Holger, Wolf Eckhard, Wursta Wolfgang, Gillis Tammy, Wakimoto Hiroko, Seidman Jonathan, MacDonald Marcy E, Cotman Susan, Gailus-Durner Valérie, Fuchs Helmut, de Angelis Martin Hrabě, Lee Jong-Min, Wheeler Vanessa C
Abstract excerpt
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the expansion of a CAG trinucleotide repeat in the HTT gene encoding huntingtin. The disease has an insidious course, typically progressing over 10-15 years until death. Currently there is no effective disease-modifying therapy. To better understand the HD pathogenic process we have developed genetic HTT CAG knock-in mouse...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.