PMID- 11193179
OWN - NLM
STAT- MEDLINE
DCOM- 20010208
LR  - 20190616
IS  - 0077-8923 (Print)
IS  - 0077-8923 (Linking)
VI  - 920
DP  - 2000
TI  - Tau gene mutations in frontotemporal dementia and parkinsonism linked to 
      chromosome 17 (FTDP-17). Their relevance for understanding the neurogenerative 
      process.
PG  - 74-83
AB  - Tau is a microtubule-associated protein that binds to microtubules and promotes 
      microtubule assembly. Six tau isoforms are produced in adult human brain by 
      alternative mRNA splicing from a single gene. Inclusion of a 31 amino acid repeat 
      encoded by exon 10 of the tau gene gives rise to the three isoforms with four 
      microtubule-binding repeats each. The other three tau isoforms have three repeats 
      each. Abundant neurofibrillary lesions made of tau protein constitute a defining 
      neuropathological characteristic of Alzheimer's disease. Filamentous tau protein 
      deposits are also the defining characteristic of other neurodegenerative 
      diseases, many of which are frontotemporal dementias or movement disorders, such 
      as Pick's disease, progressive supranuclear palsy, and corticobasal degeneration. 
      It is well established that the distribution of tau pathology correlates with the 
      presence of symptoms of disease. However, until recently, there was no genetic 
      evidence linking tau to neurodegeneration. This has now changed with the 
      discovery of more than 15 mutations in the tau gene in frontotemporal dementia 
      and parkinsonism linked to chromosome 17 (FTDP-17). The new work has shown that 
      dysfunction of tau protein causes neurodegeneration.
FAU - Goedert, M
AU  - Goedert M
AD  - Medical Research Council Laboratory of Molecular Biology, Cambridge, UK. 
      mg@mrc-lmb.cam.ac.uk
FAU - Ghetti, B
AU  - Ghetti B
FAU - Spillantini, M G
AU  - Spillantini MG
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Ann N Y Acad Sci
JT  - Annals of the New York Academy of Sciences
JID - 7506858
RN  - 0 (Protein Isoforms)
RN  - 0 (tau Proteins)
SB  - IM
MH  - Adult
MH  - Alternative Splicing
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 17
MH  - Dementia/*genetics/pathology
MH  - Frontal Lobe/pathology
MH  - Genetic Linkage
MH  - Humans
MH  - Parkinsonian Disorders/genetics
MH  - Protein Isoforms/genetics
MH  - Temporal Lobe/pathology
MH  - tau Proteins/*genetics
RF  - 66
EDAT- 2001/02/24 12:00
MHDA- 2001/03/03 10:01
CRDT- 2001/02/24 12:00
PHST- 2001/02/24 12:00 [pubmed]
PHST- 2001/03/03 10:01 [medline]
PHST- 2001/02/24 12:00 [entrez]
AID - 10.1111/j.1749-6632.2000.tb06907.x [doi]
PST - ppublish
SO  - Ann N Y Acad Sci. 2000;920:74-83. doi: 10.1111/j.1749-6632.2000.tb06907.x.