A novel tau mutation in exon 9 (1260V) causes a four-repeat tauopathy
(2003) In Experimental Neurology 184(1). p.131-140- Abstract
- A novel mutation in exon 9 of tau, I260V, is associated with a clinical syndrome consistent with frontotemporal dementia with extensive tau pathology; however, neurofibrillary tangles and Pick bodies are absent. Significantly, Sarkosyl- insoluble tau extracted from affected brain tissue consisted almost exclusively of four-repeat isoforms. Consistent with these findings, in vitro biochemical assays demonstrated that the I260V mutation causes a selective increase in tau aggregation and a decrease in tau-induced microtubule assembly with four-repeat isoforms only. The contrasting pathology and biochemical effects of this mutation suggest a different disease mechanism from the other exon 9 mutations and demonstrates the critical role for the... (More)
- A novel mutation in exon 9 of tau, I260V, is associated with a clinical syndrome consistent with frontotemporal dementia with extensive tau pathology; however, neurofibrillary tangles and Pick bodies are absent. Significantly, Sarkosyl- insoluble tau extracted from affected brain tissue consisted almost exclusively of four-repeat isoforms. Consistent with these findings, in vitro biochemical assays demonstrated that the I260V mutation causes a selective increase in tau aggregation and a decrease in tau-induced microtubule assembly with four-repeat isoforms only. The contrasting pathology and biochemical effects of this mutation suggest a different disease mechanism from the other exon 9 mutations and demonstrates the critical role for the first microtubule-binding domain in tau-promoted microtubule assembly and the pathogenic aggregation of tau. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/294573
- author
- organization
- publishing date
- 2003
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- neurodegeneration, dementia, pick body, glial tau, axonal, microtubule assembly, aggregation, isoform, tau, four-repeat
- in
- Experimental Neurology
- volume
- 184
- issue
- 1
- pages
- 131 - 140
- publisher
- Elsevier
- external identifiers
-
- wos:000186804800018
- pmid:14637086
- scopus:0345689371
- ISSN
- 0014-4886
- DOI
- 10.1016/S0014-4886(03)00393-5
- language
- English
- LU publication?
- yes
- additional info
- The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Pathology, (Lund) (013030000), Department of Psychogeriatrics (013304000)
- id
- 1d358115-738c-4f46-8cd3-ac69e2daf211 (old id 294573)
- date added to LUP
- 2016-04-01 12:32:05
- date last changed
- 2022-01-27 06:22:01
@article{1d358115-738c-4f46-8cd3-ac69e2daf211, abstract = {{A novel mutation in exon 9 of tau, I260V, is associated with a clinical syndrome consistent with frontotemporal dementia with extensive tau pathology; however, neurofibrillary tangles and Pick bodies are absent. Significantly, Sarkosyl- insoluble tau extracted from affected brain tissue consisted almost exclusively of four-repeat isoforms. Consistent with these findings, in vitro biochemical assays demonstrated that the I260V mutation causes a selective increase in tau aggregation and a decrease in tau-induced microtubule assembly with four-repeat isoforms only. The contrasting pathology and biochemical effects of this mutation suggest a different disease mechanism from the other exon 9 mutations and demonstrates the critical role for the first microtubule-binding domain in tau-promoted microtubule assembly and the pathogenic aggregation of tau.}}, author = {{Grover, A and England, E and Baker, M and Sahara, N and Adamson, J and Granger, B and Houlden, H and Passant, Ulla and Yen, SH and DeTure, M and Hutton, M}}, issn = {{0014-4886}}, keywords = {{neurodegeneration; dementia; pick body; glial tau; axonal; microtubule assembly; aggregation; isoform; tau; four-repeat}}, language = {{eng}}, number = {{1}}, pages = {{131--140}}, publisher = {{Elsevier}}, series = {{Experimental Neurology}}, title = {{A novel tau mutation in exon 9 (1260V) causes a four-repeat tauopathy}}, url = {{http://dx.doi.org/10.1016/S0014-4886(03)00393-5}}, doi = {{10.1016/S0014-4886(03)00393-5}}, volume = {{184}}, year = {{2003}}, }