Article
Induced pluripotent stem cell models of progranulin-deficient frontotemporal dementia uncover specific reversible neuronal defects.
Cell reports - 25 Oct 2012
Almeida Sandra, Zhang Zhijun, Coppola Giovanni, Mao Wenjie, Futai Kensuke, Karydas Anna, Geschwind Michael D, Tartaglia M Carmela, Gao Fuying, Gianni Davide, Sena-Esteves Miguel, Geschwind Daniel H, Miller Bruce L, Farese Robert V, Gao Fen-Biao
Abstract excerpt
The pathogenic mechanisms of frontotemporal dementia (FTD) remain poorly understood. Here we generated multiple induced pluripotent stem cell lines from a control subject, a patient with sporadic FTD, and an FTD patient with a novel heterozygous GRN mutation (progranulin [PGRN] S116X). In neurons and microglia differentiated from PGRN S116X induced pluripotent stem cells, the levels of intracellular and secreted...
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