PL EN


Preferences help
enabled [disable] Abstract
Number of results
2002 | 43 | 4 | 535-543
Article title

A novel mutation at position +11 in the intron following exon 10 of the tau gene in FTDP-17

Title variants
Languages of publication
EN
Abstracts
EN
Mutations in the microtubule-associated tau gene are responsible for frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). A reduced ability of the mutated microtubule-associated tau protein to interact with microtubules causes microtubule destabilization leading to deleterious effects on axonal transport and the formation of tau filaments. Here, we describe a new mutation of the tau gene, a T C transition at position +11 of the intron following exon 10 (T C 3?E10 +11) in the family showing frontotemporal dementia with very early age of onset (the first decade of proband?s life). The TC 3?E10 +11 mutation caused a large increase in the proportion of transcripts containing exon 10 detected by exon-trapping analysis. Our study confirmed that the T C 3?E10 +11 mutation, as the other 5? splice site mutations of tau exon 10, modifies alternative splicing of exon 10.
Discipline
Publisher

Year
Volume
43
Issue
4
Pages
535-543
Physical description
Contributors
author
author
author
author
author
author
author
author
References
Document Type
SHORT COMMUNICA
Publication order reference
A. Kowalska, Institute of Human Genetics, Polish Academy of Sciences, ul. Strzeszynska 32, 60-479 Poznan, Poland
Identifiers
YADDA identifier
bwmeta1.element.element-from-psjc-32a288ea-8bf7-37ec-abaa-cb33e4923162
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.