Article
Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17.
Science (New York, N.Y.) - 4 Dec 1998
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 excerpt
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...
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