Article
A Comprehensive Resource for Induced Pluripotent Stem Cells from Patients with Primary Tauopathies.
Stem cell reports - 12 Nov 2019
Karch Celeste M, Kao Aimee W, Karydas Anna, Onanuga Khadijah, Martinez Rita, Argouarch Andrea, Wang Chao, Huang Cindy, Sohn Peter Dongmin, Bowles Kathryn R, Spina Salvatore, Silva M Catarina, Marsh Jacob A, Hsu Simon, Pugh Derian A, Ghoshal Nupur, Norton Joanne, Huang Yadong, Lee Suzee E, Seeley William W, Theofilas Panagiotis, Grinberg Lea T, Moreno Fermin, McIlroy Kathryn, Boeve Bradley F, Cairns Nigel J, Crary John F, Haggarty Stephen J, Ichida Justin K, Kosik Kenneth S, Miller Bruce L, Gan Li, Goate Alison M, Temple Sally
Abstract excerpt
Primary tauopathies are characterized neuropathologically by inclusions containing abnormal forms of the microtubule-associated protein tau (MAPT) and clinically by diverse neuropsychiatric, cognitive, and motor impairments. Autosomal dominant mutations in the MAPT gene cause heterogeneous forms of frontotemporal lobar degeneration with tauopathy (FTLD-Tau). Common and rare variants in the MAPT gene increase the...
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