Journal
HUMAN MUTATION
Volume 30, Issue 4, Pages E591-E602Publisher
WILEY-BLACKWELL
DOI: 10.1002/humu.20979
Keywords
MAPT; deletion; FTDP-17; MAP-1B
Categories
Funding
- G4 [2004/147/HP-UF R 809]
Ask authors/readers for more resources
A heterozygous genomic deletion removing exons 6 to 9 of the microtubule associated protein tau (MAPT) gene, predicting to result into a truncated protein lacking the first microtubule binding domain, was detected in a patient with frontotemporal dementia (FTD). Cell culture experiments showed that the truncated tau isoforms had a dramatic decrease in the normal binding to microtubules but acquired the ability to bind microtubule associated protein-1B (MAP-1B). This indicates that this tauopathy likely results both from a loss of function mechanism and from a deleterious gain of function by which cytoplasmic deleted forms of tau sequester another MAP. Both mechanisms could contribute to impair microtubule dynamics. (C) 2009 Wiley-Liss, Inc.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available