Article
The role of tau (MAPT) in frontotemporal dementia and related tauopathies.
Human mutation - 1 Oct 2004
Rademakers R, Cruts M, van Broeckhoven C
Abstract excerpt
Tau is a multifunctional protein that was originally identified as a microtubule-associated protein. In patients diagnosed with frontotemporal dementia and parkinsonism linked to chromosome 17, mutations in the gene encoding tau (MAPT) have been identified that disrupt the normal binding of tau to tubulin resulting in pathological deposits of hyperphosphorylated tau. Abnormal filamentous tau deposits have been...
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