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TranscriptomicsInduced pluripotent stem cell models of progranulin-deficient frontotemporal dementia uncover specific reversible neuronal defects.
Multiple FTD patient-specific iPSC lines were generated for the first time, Human neurons of progranulin haploinsufficiency have been established. PGRN S116X neurons are more sensitive to kinase inhibitors-induced cell stress, which can be rescued by ectopic progranulin expression, revealing progran...
ORGANISM(S): Homo sapiens 
2012-10-25 | E-GEOD-40378 | biostudies-arrayexpress
TranscriptomicsAn Epigenetic Signature in Peripheral Blood Associated with Neurodegenerative Tauopathy and the Risk-Associated Haplotype on 17q21.31
Progressive supranuclear palsy (PSP) and frontotemporal dementia (FTD) are two neurodegenerative diseases linked, at the pathologic and genetic level, to the macrutubule associated protein tau. We identified and replicated a dose-dependent effect of the risk-associated H1 haplotype on methylation le...
ORGANISM(S): Homo sapiens 
2014-06-01 | E-GEOD-53740 | biostudies-arrayexpress
TranscriptomicsProgranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation
Microglia repair injury and maintain homeostasis in the brain, but whether aberrant microglial activation can contribute to neurodegeneration remains unclear. Here, we use transcriptome profiling to demonstrate that deficiency in frontotemporal dementia (FTD) gene progranulin (Grn) leads to an age-d...
ORGANISM(S): Mus musculus 
2016-03-31 | E-GEOD-75083 | biostudies-arrayexpress
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