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ID 28857
本文ファイル
著者
Kamada, Masaki
Tanaka, Eiji
Wate, Reika
Ito, Hidefumi
Kusaka, Hirofumi
Kawano, Yuji
Miki, Tetsuro
Nodera, Hiroyuki
Izumi, Yuishin
Kaji, Ryuji
キーワード
TARDBP mutation
TDP-43
Amyotrophic lateral sclerosis
ALS
Familial
NDC
医学
抄録(英)
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.
掲載誌名
Journal of the Neurological Sciences
284巻
1-2号
開始ページ
69
終了ページ
71
出版年月日
2009-09-15
出版者
Elsevier Science BV
ISSN
0022-510X
NCID
出版者DOI
言語
英語
NII資源タイプ
学術雑誌論文
広大資料タイプ
学術雑誌論文
DCMIタイプ
text
フォーマット
application/pdf
著者版フラグ
author
権利情報
Copyright (c) 2009 Elsevier B. V.
関連情報URL
部局名
原爆放射線医科学研究所