Article
The novel Tau mutation G335S: clinical, neuropathological and molecular characterization.
Acta neuropathologica - 1 Apr 2007
Spina Salvatore, Murrell Jill R, Yoshida Hirotaka, Ghetti Bernardino, Bermingham Niamh, Sweeney Brian, Dlouhy Stephen R, Crowther R Anthony, Goedert Michel, Keohane Catherine
Abstract excerpt
Mutations in Tau cause the inherited neurodegenerative disease, frontotemporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17). Known coding region mutations cluster in the microtubule-binding region, where they alter the ability of tau to promote microtubule assembly. Depending on the tau isoforms, this region consists of three or four imperfect repeats of 31 or 32 amino acids, each of which contains...
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