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- Title
Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17.
- Authors
Hong, M; Zhukareva, V; Vogelsberg-Ragaglia, V; Wszolek, Z; Reed, L; Miller, B I; Geschwind, D H; Bird, T D; McKeel, D; Goate, A; Morris, J C; Wilhelmsen, K C; Schellenberg, G D; Trojanowski, J Q; Lee, V M
- Abstract
Tau proteins aggregate as cytoplasmic inclusions in a number of neurodegenerative diseases, including Alzheimer's disease and hereditary frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Over 10 exonic and intronic mutations in the tau gene have been identified in about 20 FTDP-17 families. Analyses of soluble and insoluble tau proteins from brains of FTDP-17 patients indicated that different pathogenic mutations differentially altered distinct biochemical properties and stoichiometry of brain tau isoforms. Functional assays of recombinant tau proteins with different FTDP-17 missense mutations implicated all but one of these mutations in disease pathogenesis by reducing the ability of tau to bind microtubules and promote microtubule assembly.
- Publication
Science (New York, N.Y.), 1998, Vol 282, Issue 5395, p1914
- ISSN
0036-8075
- Publication type
Journal Article
- DOI
10.1126/science.282.5395.1914