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ID 28857
file
creator
Kamada, Masaki
Tanaka, Eiji
Wate, Reika
Ito, Hidefumi
Kusaka, Hirofumi
Kawano, Yuji
Miki, Tetsuro
Nodera, Hiroyuki
Izumi, Yuishin
Kaji, Ryuji
subject
TARDBP mutation
TDP-43
Amyotrophic lateral sclerosis
ALS
Familial
NDC
Medical sciences
abstract
TAR-DNA-binding protein 43 (TDP-43), encoded by the TARDBP gene on chromosome 1p36.22, has been identified as the major pathological protein in abnormal inclusions in neurons and glial cells in sporadic amyotrophic lateral sclerosis (SALS), SOD1-negative familial ALS (FALS) and frontotemporal lobar dementia (FTLD). Twenty mutations of TARDBP in SOD1-negative FALS and SALS cases have been reported so far. To investigate the presence and frequency of TARDBP mutations in Japanese SOD1-negative FALS patients, we performed mutational screening of TARDBP in 30 SOD1-negative FALS patients. An N352S mutation was found in one case of FALS, but no TARDBP mutations were found in cases of SALS. It was thought that this mutation increases TDP-43 phosphorylation. This might lead to impaired nuclear cytoplasmic transport or protein-protein interaction, thereby leading to TDP-43 accumulation.
journal title
Journal of the Neurological Sciences
volume
Volume 284
issue
Issue 1-2
start page
69
end page
71
date of issued
2009-09-15
publisher
Elsevier Science BV
issn
0022-510X
ncid
publisher doi
language
eng
nii type
Journal Article
HU type
Journal Articles
DCMI type
text
format
application/pdf
text version
author
rights
Copyright (c) 2009 Elsevier B. V.
relation url
department
Research Institute for Radiation Biology and Medicine



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