Mutation-Specific Functional Impairments in Distinct Tau Isoforms of Hereditary FTDP-17

Missense point mutations of tau to segre

Missense point mutations of tau to segregate with FTDP-17 exhibit site-specific effects on microtubule structure in COS cells: A novel action of R406W mutation

✍ Naruhiko Sahara; Takami Tomiyama; Hiroshi Mori 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 701 KB

Missense and splicing point mutations have been found in the tau gene in families with frontotemporal dementia with parkinsonism linked to chromosome 17 . Of these mutations, we examined four exonic missense point mutations (G272V, P301L, V337M and R406W) in 3-repeat or 4-repeat tau isoform on the t