|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0015127,
umls-concept:C0017337,
umls-concept:C0026882,
umls-concept:C0030664,
umls-concept:C0205314,
umls-concept:C0338451,
umls-concept:C0679622,
umls-concept:C1314792,
umls-concept:C1710548,
umls-concept:C1720655,
umls-concept:C1947974,
umls-concept:C2700455
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pubmed:issue |
1
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|
pubmed:dateCreated |
2003-1-1
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|
pubmed:abstractText |
We report a novel mutation of tau (L266V missense mutation in exon 9) which may cause a type of familial frontotemporal dementia. The brain of a patient showed Pick body-like inclusions and unique tau-positive, argyrophilic astrocytes with stout filaments and naked, round, or irregular argyrophilic inclusions with deposits of both three-repeat and four-repeat tau. Recombinant tau with a L266V mutation showed a reduced ability to promote microtubule assembly, which may be the primary effect of the mutation.
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pubmed:language |
eng
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pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jan
|
|
pubmed:issn |
0364-5134
|
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pubmed:author |
pubmed-author:AnnoMidoriM,
pubmed-author:HasegawaMasatoM,
pubmed-author:ItoYujiY,
pubmed-author:KobayashiTomonoriT,
pubmed-author:MizunoYoshikuniY,
pubmed-author:MoriHideoH,
pubmed-author:MotoiYumikoY,
pubmed-author:OtaSatoruS,
pubmed-author:TakanashiMasashiM,
pubmed-author:TanakaKuniakiK,
pubmed-author:UmedaYuriY,
pubmed-author:YasuharaMasahiroM
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
53
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
133-7
|
|
pubmed:dateRevised |
2004-11-17
|
|
pubmed:meshHeading |
|
|
pubmed:year |
2003
|
|
pubmed:articleTitle |
A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.
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|
pubmed:affiliation |
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.
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|
pubmed:publicationType |
Journal Article,
Case Reports
|
