Msh2 acts in medium-spiny striatal neurons as an enhancer of CAG instability and mutant huntingtin phenotypes in Huntington's disease knock-in mice.

The CAG trinucleotide repeat mutation in the Huntington's disease gene (HTT) exhibits age-dependent tissue-specific expansion that correlates with disease onset in patients, implicating somatic expansion as a disease modifier and potential therapeutic target. Somatic HTT CAG expansion is critically...

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Autori principali:	Marina Kovalenko, Ella Dragileva, Jason St Claire, Tammy Gillis, Jolene R Guide, Jaclyn New, Hualing Dong, Raju Kucherlapati, Melanie H Kucherlapati, Michelle E Ehrlich, Jong-Min Lee, Vanessa C Wheeler
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Public Library of Science (PLoS) 2012-01-01
Serie:	PLoS ONE
Accesso online:	http://europepmc.org/articles/PMC3436885?pdf=render
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