title: Tau pathology in a case of familial Alzheimer's disease with a valine to glycine mutation at position 717 in the amyloid precursor protein.
abstract: The brain tissue from a case of familial Alzheimer's disease (FAD) caused by a missense (valine to glycine) mutation at codon 717 of the amyloid precursor protein (APP) gene has been examined for the presence of abnormally phosphorylated paired helical filament tau (PHF-tau). There was abundant PHF-tau present, which on Western blots, was indistinguishable from the PHF-tau typical of cases of sporadic Alzheimer's disease and that of another FAD mutation (valine to isoleucine), previously (Neurosci. Lett., 137 (1992) 221-224). This result implies that the cytoskeletal pathology in Alzheimer's disease is biochemically linked to abnormal APP processing and amyloid deposition.
authors: Department of Neuroscience, Institute of Psychiatry, London, UK.
authors: D P
authors: DP
authors: Hanger
authors: D M
authors: DM
authors: Mann
authors: D
authors: D
authors: Neary
authors: B H
authors: BH
authors: Anderton
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics / Q000378:metabolism*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics / Q000378:metabolism*; D000911:Antibodies, Monoclonal; D015153:Blotting, Western; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005998:Glycine / Q000378:metabolism*; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D014633:Valine / Q000378:metabolism*; D016875:tau Proteins / Q000276:immunology / Q000378:metabolism*
chemical_list: D016564:Amyloid beta-Protein Precursor; D000911:Antibodies, Monoclonal; D016875:tau Proteins; D014633:Valine; D005998:Glycine