PMID- 16092090
OWN - NLM
STAT- MEDLINE
DCOM- 20051213
LR  - 20061024
IS  - 0885-3185 (Print)
IS  - 0885-3185 (Linking)
VI  - 20 Suppl 12
DP  - 2005 Aug
TI  - Tau gene mutations and their effects.
PG  - S45-52
AB  - Tau is the major component of the intracellular filamentous deposits that define 
      a number of neurodegenerative diseases, including the largely sporadic 
      Alzheimer's disease, progressive supranuclear palsy, corticobasal degeneration, 
      Pick's disease, and argyrophilic grain disease, as well as the inherited 
      frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). For a 
      long time, it was unclear whether the dysfunction of tau protein follows disease 
      or whether disease follows the dysfunction of tau protein. The identification of 
      mutations in Tau as the cause of FTDP-17 has resolved this issue. About half of 
      the known mutations have their primary effect at the protein level, and they 
      reduce the ability of tau protein to interact with microtubules and increase its 
      propensity to assemble into abnormal filaments. The other mutations have their 
      primary effect at the RNA level, thus perturbing the normal ratio of three-repeat 
      to four-repeat tau isoforms. Where studied, this resulted in the relative 
      overproduction of tau protein with four microtubule-binding repeats in brain. 
      Several Tau mutations give rise to diseases that resemble progressive 
      supranuclear palsy, corticobasal degeneration, or Pick's disease. Moreover, the 
      H1 haplotype of Tau has been identified as a significant risk factor for 
      progressive supranuclear palsy and corticobasal degeneration.
CI  - Copyright 2005 Movement Disorder Society.
FAU - Goedert, Michel
AU  - Goedert M
AD  - Medical Research Council Laboratory of Molecular Biology, Cambridge, UK. 
      mg@mrc-lmb.cam.ac.uk
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Mov Disord
JT  - Movement disorders : official journal of the Movement Disorder Society
JID - 8610688
RN  - 0 (MAPT protein, human)
RN  - 0 (Microtubule-Associated Proteins)
RN  - 0 (RNA, Messenger)
RN  - 0 (tau Proteins)
RN  - 63231-63-0 (RNA)
SB  - IM
MH  - Alzheimer Disease/genetics/pathology/physiopathology
MH  - Chromosomes, Human, Pair 17/genetics
MH  - Frontal Lobe/pathology/physiopathology
MH  - Humans
MH  - Microtubule-Associated Proteins/genetics
MH  - Mutation, Missense/genetics
MH  - Neurodegenerative Diseases/genetics/pathology/physiopathology
MH  - Parkinsonian Disorders/genetics/pathology/physiopathology
MH  - Pick Disease of the Brain/genetics/pathology/physiopathology
MH  - Point Mutation/*genetics
MH  - RNA/genetics
MH  - RNA, Messenger/genetics
MH  - Supranuclear Palsy, Progressive/genetics/pathology/physiopathology
MH  - Temporal Lobe/pathology/physiopathology
MH  - tau Proteins/*genetics
EDAT- 2005/08/11 09:00
MHDA- 2005/12/15 09:00
CRDT- 2005/08/11 09:00
PHST- 2005/08/11 09:00 [pubmed]
PHST- 2005/12/15 09:00 [medline]
PHST- 2005/08/11 09:00 [entrez]
AID - 10.1002/mds.20539 [doi]
PST - ppublish
SO  - Mov Disord. 2005 Aug;20 Suppl 12:S45-52. doi: 10.1002/mds.20539.