PMID- 17493040
OWN - NLM
STAT- MEDLINE
DCOM- 20070626
LR  - 20220331
IS  - 1015-6305 (Print)
IS  - 1750-3639 (Electronic)
IS  - 1015-6305 (Linking)
VI  - 17
IP  - 1
DP  - 2007 Jan
TI  - Hereditary frontotemporal dementia caused by Tau gene mutations.
PG  - 63-73
AB  - Tau protein is involved in microtubule assembly and stabilization. Filamentous 
      deposits made of tau constitute a defining characteristic of several 
      neurodegenerative diseases. The relevance of tau dysfunction for 
      neurodegeneration has been clarified through the identification of mutations in 
      the Tau gene in cases with frontotemporal dementia and parkinsonism linked to 
      chromosome 17 (FTDP-17). Although the mechanisms by which these mutations lead to 
      nerve cell death are only incompletely understood, it is clear that they cause 
      the formation of tau filaments with distinct morphologies and isoform 
      compositions. The range of tau pathology identified in FTDP-17 recapitulates that 
      in sporadic tauopathies, indicating a major role for tau dysfunction in these 
      diseases.
FAU - van Swieten, John
AU  - van Swieten J
AD  - Erasmus Medical Centre, Rotterdam, The Netherlands. j.c.vanswieten@erasmusmc.nl
FAU - Spillantini, Maria Grazia
AU  - Spillantini MG
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - Switzerland
TA  - Brain Pathol
JT  - Brain pathology (Zurich, Switzerland)
JID - 9216781
RN  - 0 (tau Proteins)
SB  - IM
MH  - Brain/pathology
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Dementia/*genetics/metabolism
MH  - Humans
MH  - Mutation/genetics
MH  - Parkinsonian Disorders/genetics/metabolism
MH  - tau Proteins/*genetics/metabolism
PMC - PMC8095608
EDAT- 2007/05/12 09:00
MHDA- 2007/06/27 09:00
PMCR- 2007/02/26
CRDT- 2007/05/12 09:00
PHST- 2007/05/12 09:00 [pubmed]
PHST- 2007/06/27 09:00 [medline]
PHST- 2007/05/12 09:00 [entrez]
PHST- 2007/02/26 00:00 [pmc-release]
AID - BPA052 [pii]
AID - 10.1111/j.1750-3639.2007.00052.x [doi]
PST - ppublish
SO  - Brain Pathol. 2007 Jan;17(1):63-73. doi: 10.1111/j.1750-3639.2007.00052.x.