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Tau proteins with FTDP‐17 mutations have a reduced ability to promote microtubule assembly
Author(s) -
Hasegawa Masato,
Smith Michael J,
Goedert Michel
Publication year - 1998
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/s0014-5793(98)01217-4
Subject(s) - missense mutation , frontotemporal dementia , biology , genetics , mutation , gene isoform , tau protein , microtubule , gene , loss function , phenotype , alzheimer's disease , dementia , medicine , disease , pathology
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.