Ontology highlight
ABSTRACT:
SUBMITTER: Sohn PD
PROVIDER: S-EPMC6880876 | biostudies-literature | 2019 Nov
REPOSITORIES: biostudies-literature
Sohn Peter Dongmin PD Huang Cindy Tzu-Ling CT Yan Rui R Fan Li L Tracy Tara E TE Camargo Carolina M CM Montgomery Kelly M KM Arhar Taylor T Mok Sue-Ann SA Freilich Rebecca R Baik Justin J He Manni M Gong Shiaoching S Roberson Erik D ED Karch Celeste M CM Gestwicki Jason E JE Xu Ke K Kosik Kenneth S KS Gan Li L
Neuron 20190918 3
Dysregulation of neuronal excitability underlies the pathogenesis of tauopathies, including frontotemporal dementia (FTD) with tau inclusions. A majority of FTD-causing tau mutations are located in the microtubule-binding domain, but how these mutations alter neuronal excitability is largely unknown. Here, using CRISPR/Cas9-based gene editing in human pluripotent stem cell (iPSC)-derived neurons and isogenic controls, we show that the FTD-causing V337M tau mutation impairs activity-dependent pla ...[more]