The molecular genetics of the tauopathies
M Van Slegtenhorst, J Lewis, M Hutton - Experimental gerontology, 2000 - Elsevier
The identification of mutations in the tau gene in frontotemporal dementia and Parkinsonism
linked to chromosome 17 (FTDP-17) demonstrated that there is a direct link between tau
dysfunction and neurodegeneration. At least 11 missense mutations and a three base pair
deletion (ΔK280) have been identified in exons 9–13. Additionally, five splice site mutations
have been found in intron 10. The different FTDP-17 mutations have multiple effects on the
biology and function of tau. These varied pathogenic mechanisms likely explain the wide …
linked to chromosome 17 (FTDP-17) demonstrated that there is a direct link between tau
dysfunction and neurodegeneration. At least 11 missense mutations and a three base pair
deletion (ΔK280) have been identified in exons 9–13. Additionally, five splice site mutations
have been found in intron 10. The different FTDP-17 mutations have multiple effects on the
biology and function of tau. These varied pathogenic mechanisms likely explain the wide …