Tau proteins with FTDP‐17 mutations have a reduced ability to promote microtubule assembly

FEBS Letters

Smith, Michael J¹  Hasegawa, Masato¹  Goedert, Michel¹ 

[1] Medical Research Council Laboratory of Molecular Biology, Hills Road, Cambridge CB2 2QH, UK

关键词: Tau protein;    Microtubule assembly;    Frontotemporal dementia;    Alzheimer's disease;   

DOI  :  10.1016/S0014-5793(98)01217-4

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

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 tau to promote microtubule assembly. This partial loss-of-function may be the primary effect of the known missense mutations in tau.

【 授权许可】

Unknown