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An, Mahru C.; Zhang, Ningzhe; Scott, Gary; Montoro, Daniel; Wittkop, Tobias; Mooney, Sean; Melov, Simon; Ellerby, Lisa M.
Cell stem cell, 08/2012, Letnik: 11, Številka: 2Journal Article
Huntington's disease (HD) is caused by a CAG expansion in the huntingtin gene. Expansion of the polyglutamine tract in the huntingtin protein results in massive cell death in the striatum of HD patients. We report that human induced pluripotent stem cells (iPSCs) derived from HD patient fibroblasts can be corrected by the replacement of the expanded CAG repeat with a normal repeat using homologous recombination, and that the correction persists in iPSC differentiation into DARPP-32-positive neurons in vitro and in vivo. Further, correction of the HD-iPSCs normalized pathogenic HD signaling pathways (cadherin, TGF-β, BDNF, and caspase activation) and reversed disease phenotypes such as susceptibility to cell death and altered mitochondrial bioenergetics in neural stem cells. The ability to make patient-specific, genetically corrected iPSCs from HD patients will provide relevant disease models in identical genetic backgrounds and is a critical step for the eventual use of these cells in cell replacement therapy. ► Genetic correction of the CAG expansion in iPSCs from a HD patient ► Reversal of HD phenotypes such as caspase-3 activation ► The corrected iPSCs could be differentiated into DARPP-32-positive neurons ► The neural stem cells were implanted into an HD mouse model and survived Genetic correction in human induced pluripotent stem cells (iPSCs) derived from Huntington's disease patient fibroblasts gives a reversal of disease phenotypes, providing a tool for further experimental analysis and, eventually, potential cell replacement therapy.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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in: SICRIS
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