Huntington's disease Hdh knock-out and knock-in embryonic stem cells
Summary:
Analysis of embryonic stem cells without Hdh or with knock-in alleles with different Hdh CAG-polyglutamine repeat sizes. CAG-repeat length is inversely correlated with the age of onset of Huntington's disease (HD) symptoms in humans. Results provide insight into molecular mechanisms underlying HD.
Jacobsen JC, Gregory GC, Woda JM, Thompson MN et al. HD CAG-correlated gene expression changes support a simple dominant gain of function. Hum Mol Genet 2011 Jul 15;20(14):2846-60. PMID: 21536587
