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Article

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

PloS one - 1 Jan 2012

Kovalenko Marina, Dragileva Ella, St Claire Jason, Gillis Tammy, Guide Jolene R, New Jaclyn, Dong Hualing, Kucherlapati Raju, Kucherlapati Melanie H, Ehrlich Michelle E, Lee Jong-Min, Wheeler Vanessa C

Abstract excerpt

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 dependent on proteins in the mismatch repair (MMR) pathway. To gain further insight into mechanisms of somatic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22970194
DOI: 10.1371/journal.pone.0044273
PMCID: PMC3436885

Genes

HTT
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Msh2 acts in medium-spiny striatal neurons as an enhancer of CAG instability and mutant huntingtin phenotypes in Huntington's disease knock-in mice.PMID 22970194Read ↗

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