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...
Topics
- Alternative Splicing
- Brain
- Cerebellum
- Chromosomes, Human, Pair 17
- Dementia
- Frontal Lobe
- Humans
- Microtubules
- Mutation
- Mutation, Missense
- Parkinson Disease, Secondary
- Phosphorylation
- Protein Isoforms
- Recombinant Proteins