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  • Grover, A, et al. (author)
  • A novel tau mutation in exon 9 (1260V) causes a four-repeat tauopathy
  • 2003
  • In: Experimental Neurology. - 0014-4886. ; 184:1, s. 131-140
  • Journal article (peer-reviewed)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.
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Type of publication
journal article (1)
Type of content
peer-reviewed (1)
Author/Editor
Baker, M. (1)
Hutton, M (1)
Passant, Ulla (1)
Houlden, H. (1)
Grover, A (1)
England, E (1)
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Granger, B. (1)
Sahara, N (1)
Adamson, J (1)
Yen, SH (1)
DeTure, M (1)
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University
Lund University (1)
Language
English (1)
Research subject (UKÄ/SCB)
Medical and Health Sciences (1)
Year
2003 (1)

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