PMID- 11402146
OWN - NLM
STAT- MEDLINE
DCOM- 20010628
LR  - 20190514
IS  - 0028-3878 (Print)
IS  - 0028-3878 (Linking)
VI  - 56
IP  - 11 Suppl 4
DP  - 2001 Jun
TI  - Missense and splice site mutations in tau associated with FTDP-17: multiple 
      pathogenic mechanisms.
PG  - S21-5
AB  - Recent identification of mutations in the gene encoding the 
      microtubule-associated protein tau in the inherited frontotemporal dementia and 
      parkinsonism linked to chromosome 17 (FTDP-17) has demonstrated that tau 
      dysfunction can lead to neurodegeneration. At least nine missense mutations and 
      one deletion mutation (DeltaK280) have been identified in exons 9 through 13 that 
      encode the microtubule-binding domains of tau. In addition, five mutations have 
      been found close to the 5' splice site of exon 10. The FTDP-17 missense and 
      splice site mutations have multiple effects on the biology and function of tau. 
      It is likely that these varied pathogenic mechanisms explain the wide range of 
      clinical and neuropathologic features observed in the FTDP-17 tauopathies.
FAU - Hutton, M
AU  - Hutton M
AD  - Mayo Clinic Jacksonville, Jacksonville, FL, USA.
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Neurology
JT  - Neurology
JID - 0401060
RN  - 0 (MAPT protein, human)
RN  - 0 (Microtubule-Associated Proteins)
RN  - 0 (Protein Isoforms)
RN  - 0 (RNA Splice Sites)
RN  - 0 (tau Proteins)
SB  - IM
MH  - Exons/*genetics
MH  - Humans
MH  - Microtubule-Associated Proteins/*genetics
MH  - Mutation, Missense/*genetics
MH  - Protein Isoforms/genetics
MH  - RNA Splice Sites/*genetics
MH  - tau Proteins/*genetics
RF  - 34
EDAT- 2001/06/13 10:00
MHDA- 2001/06/29 10:01
CRDT- 2001/06/13 10:00
PHST- 2001/06/13 10:00 [pubmed]
PHST- 2001/06/29 10:01 [medline]
PHST- 2001/06/13 10:00 [entrez]
AID - 10.1212/wnl.56.suppl_4.s21 [doi]
PST - ppublish
SO  - Neurology. 2001 Jun;56(11 Suppl 4):S21-5. doi: 10.1212/wnl.56.suppl_4.s21.