Article
Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia.
Human molecular genetics - 1 Dec 2008
Rademakers Rosa, Eriksen Jason L, Baker Matt, Robinson Todd, Ahmed Zeshan, Lincoln Sarah J, Finch Nicole, Rutherford Nicola J, Crook Richard J, Josephs Keith A, Boeve Bradley F, Knopman David S, Petersen Ronald C, Parisi Joseph E, Caselli Richard J, Wszolek Zbigniew K, Uitti Ryan J, Feldman Howard, Hutton Michael L, Mackenzie Ian R, Graff-Radford Neill R, Dickson Dennis W
Abstract excerpt
Loss-of-function mutations in progranulin (GRN) cause ubiquitin- and TAR DNA-binding protein 43 (TDP-43)-positive frontotemporal dementia (FTLD-U), a progressive neurodegenerative disease affecting approximately 10% of early-onset dementia patients. Here we expand the role of GRN in FTLD-U and de...
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