Effects of frontotemporal dementia FTDP-17 mutations on heparin-induced assembly of tau filaments
Effects of frontotemporal dementia FTDP-17 mutations on heparin-induced assembly of tau filaments
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DOI：
10.1016/s0014-5793(99)00508-6
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发表时间：
1999-05-07
期刊：
影响因子：
3.5
通讯作者：
Crowther, RA
中科院分区：
文献类型：
--
作者：
Goedert, M;Jakes, R;Crowther, RA
微管相关蛋白tan基因的错义突变和内含子突变导致与17号染色体（FTDP-17）相关的额颞叶痴呆和帕金森综合征。大多数错义突变可能主要影响tau蛋白与微管相互作用的能力降低。我们在这里报告了几个错义突变的额外影响，即刺激肝素诱导的重组tan蛋白的细丝组装。尽管圆二色性表明结构没有任何变化。这些发现表明tau蛋白的错义突变通过潜在的多种机制导致额颞痴呆。(C)1999年欧洲生物化学学会联合会。
Missense mutations and intronic mutations in the gene for microtubule-associated protein tan cause frontotemporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17), Most missense mutations have as likely primary effect a reduced ability of tau to interact with microtubules, We report here an additional effect of several missense mutations, namely the stimulation of heparin-induced filament assembly of recombinant tan. despite the absence of any change in structure indicated by circular dichroism. These findings indicate that missense mutations in tau lead to frontotemparal dementia through potentially multiple mechanisms. (C) 1999 Federation of European Biochemical Societies.