Tau proteins with FTDP-17 mutations have a reduced ability to promote microtubule assembly
Tau proteins with FTDP-17 mutations have a reduced ability to promote microtubule assembly
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DOI：
10.1016/s0014-5793(98)01217-4
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发表时间：
1998-10-23
期刊：
影响因子：
3.5
通讯作者：
Goedert, M
中科院分区：
文献类型：
--
作者：
Hasegawa, M;Smith, MJ;Goedert, M
最近在家族性额颞叶痴呆和17号染色体相关帕金森综合征（FTDP-17）的病例中发现了微管相关蛋白tau基因的外显子和内含子突变，内含子突变已被证明导致四重复tau亚型的异常优势，外显子突变的影响尚不清楚。我们在这里报告G272 V，P301 L，V337 M和R406 W突变导致tan促进微管组装的能力显著降低，这种部分功能丧失可能是tau中已知错义突变的主要效应。(C)1998年欧洲生物化学学会联合会。
Recently exonic and intronic mutations in the gene for microtubule-associated protein tau have been discovered in cases of familial frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), Intronic mutations have been shown to lead to an abnormal preponderance of four-repeat tau isoforms, The effects of the exonic mutations are unknown. We report here that the G272V, P301L, V337M and R406W mutations lead to a marked reduction in the ability of tan to promote microtubule assembly, This partial loss-of-function may be the primary effect of the known missense mutations in tau. (C) 1998 Federation of European Biochemical Societies.