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Abstract
Recent identification of mutations in the gene encoding the microtubule-associated protein tau in the inherited frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) has demonstrated that tau dysfunction can lead to neurodegeneration. At least nine missense mutations and one deletion mutation (ΔK280) have been identified in exons 9 through 13 that encode the microtubule-binding domains of tau. In addition, five mutations have been found close to the 5′ splice site of exon 10. The FTDP-17 missense and splice site mutations have multiple effects on the biology and function of tau. It is likely that these varied pathogenic mechanisms explain the wide range of clinical and neuropathologic features observed in the FTDP-17 tauopathies.
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You May Also be Interested in
- Article
- Abstract
- Identification of tau mutations in FTDP-17.
- Potential pathogenic mechanisms of tau mutations in FTDP-17.
- Missense mutations alter tau self-interaction and polymerization into tau filaments.
- Mutations that alter alternative splicing of tau exon 10 (missense and 5′ splice site).
- Summary and conclusions.
- References
- Figures & Data
- Info & Disclosures
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