PMID- 9824291
OWN - NLM
STAT- MEDLINE
DCOM- 19981210
LR  - 20190621
IS  - 0014-5793 (Print)
IS  - 0014-5793 (Linking)
VI  - 437
IP  - 3
DP  - 1998 Oct 23
TI  - Tau proteins with FTDP-17 mutations have a reduced ability to promote microtubule 
      assembly.
PG  - 207-10
AB  - Recently exonic and intronic mutations in the gene for microtubule-associated 
      protein tau have been discovered in cases of familial frontotemporal dementia and 
      parkinsonism linked to chromosome 17 (FTDP-17). Intronic mutations have been 
      shown to lead to an abnormal preponderance of four-repeat tau isoforms. The 
      effects of the exonic mutations are unknown. We report here that the G272V, 
      P301L, V337M and R406W mutations lead to a marked reduction in the ability of tau 
      to promote microtubule assembly. This partial loss-of-function may be the primary 
      effect of the known missense mutations in tau.
FAU - Hasegawa, M
AU  - Hasegawa M
AD  - Medical Research Council Laboratory of Molecular Biology, Cambridge, UK.
FAU - Smith, M J
AU  - Smith MJ
FAU - Goedert, M
AU  - Goedert M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - FEBS Lett
JT  - FEBS letters
JID - 0155157
RN  - 0 (Protein Isoforms)
RN  - 0 (tau Proteins)
SB  - IM
MH  - Amino Acid Substitution/genetics
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Dementia/genetics
MH  - Humans
MH  - Microtubules/genetics/*metabolism
MH  - *Mutagenesis, Site-Directed
MH  - Parkinson Disease/genetics
MH  - Protein Isoforms/genetics
MH  - Repetitive Sequences, Amino Acid
MH  - tau Proteins/*genetics/physiology
EDAT- 1998/11/21 00:00
MHDA- 1998/11/21 00:01
CRDT- 1998/11/21 00:00
PHST- 1998/11/21 00:00 [pubmed]
PHST- 1998/11/21 00:01 [medline]
PHST- 1998/11/21 00:00 [entrez]
AID - S0014-5793(98)01217-4 [pii]
AID - 10.1016/s0014-5793(98)01217-4 [doi]
PST - ppublish
SO  - FEBS Lett. 1998 Oct 23;437(3):207-10. doi: 10.1016/s0014-5793(98)01217-4.