Article
Early retinal neurodegeneration and impaired Ran-mediated nuclear import of TDP-43 in progranulin-deficient FTLD.
The Journal of experimental medicine - 22 Sept 2014
Ward Michael E, Taubes Alice, Chen Robert, Miller Bruce L, Sephton Chantelle F, Gelfand Jeffrey M, Minami Sakura, Boscardin John, Martens Lauren Herl, Seeley William W, Yu Gang, Herz Joachim, Filiano Anthony J, Arrant Andrew E, Roberson Erik D, Kraft Timothy W, Farese Robert V, Green Ari, Gan Li
Abstract excerpt
Frontotemporal dementia (FTD) is the most common cause of dementia in people under 60 yr of age and is pathologically associated with mislocalization of TAR DNA/RNA binding protein 43 (TDP-43) in approximately half of cases (FLTD-TDP). Mutations in the gene encoding progranulin (GRN), which lead to reduced progranulin levels, are a significant cause of familial FTLD-TDP. Grn-KO mice were developed as an FTLD...
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