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1. 消失性白質疾患（Vanishing white matter disease） vanishing white matter disease
2. 原発性早期卵巣障害（早期卵巣機能不全）の病因と原因 pathogenesis and causes of spontaneous primary ovarian insufficiency premature ovarian failure

English Journal

Impaired eukaryotic translation initiation factor 2B activity specifically in oligodendrocytes reproduces the pathology of vanishing white matter disease in mice.

Lin Y1, Pang X1, Huang G1, Jamison S1, Fang J1, Harding HP2, Ron D2, Lin W3.
The Journal of neuroscience : the official journal of the Society for Neuroscience.J Neurosci.2014 Sep 3;34(36):12182-91. doi: 10.1523/JNEUROSCI.1373-14.2014.
Vanishing white matter disease (VWMD) is an inherited autosomal-recessive hypomyelinating disease caused by mutations in eukaryotic translation initiation factor 2B (eIF2B). eIF2B mutations predominantly affect the brain white matter, and the characteristic features of VWMD pathology include myelin
PMID 25186761

Vanishing white matter disease in French-Canadian patients from Quebec.

Robinson MÈ1, Rossignol E2, Brais B3, Rouleau G4, Arbour JF5, Bernard G6.
Pediatric neurology.Pediatr Neurol.2014 Aug;51(2):225-32. doi: 10.1016/j.pediatrneurol.2014.05.006. Epub 2014 May 14.
BACKGROUND: Vanishing white matter disease is an autosomal recessive leukodystrophy caused by mutations in any of the five genes encoding the subunits of the eukaryotic translation initiation factor 2B. Most of the reported patients are of North American and European ancestry.OBJECTIVE: The objectiv
PMID 25079571

Vanishing white matter disease presenting as opsoclonus myoclonus syndrome in childhood--a case report and review of the literature.

Klingelhoefer L1, Misbahuddin A2, Jawad T3, Mellers J4, Jarosz J5, Weeks R6, Ray Chaudhuri K7.
Pediatric neurology.Pediatr Neurol.2014 Jul;51(1):157-64. doi: 10.1016/j.pediatrneurol.2014.03.008. Epub 2014 Mar 15.
BACKGROUND: Vanishing white matter disease is caused by mutations of the eukaryotic translation initiation factor 2B (EIF2B) and is a prevalent cause of inherited childhood leukoencephalopathy. Infantile and early childhood onset forms are associated with chronic progressive neurological signs, with
PMID 24938145

Japanese Journal

Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bε (eIF2Bε) identified in Chinese patients with vanishing white matter disease

Leng Xuerong,Wu Ye,Wang Xuemin [他],PAN Yanxia,WANG Jingmin,LI Jiao,DU Li,DAI Lifang,WU Xiru,PROUD Christopher G,JIANG Yuwu
Journal of human genetics 56(4), 300-305, 2011-04-01
NAID 10030658873

Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease

Wu Ye,Pan Yanxia,Du Li [他],WANG Jingmin,GU Qiang,GAO Zhijie,LI Jie,LENG Xuerong,QIN Jiong,WU Xiru,JIANG Yuwu
Journal of human genetics 54(2), 74-77, 2009-02-01
NAID 10030729103

Peptidomics and proteomics studies of transformed lymphocytes from patients mutated for the eukaryotic initiation factor 2B

FOGLI Anne,MALINVERNI Claire,THADIKKARAN Lynne,COMBES Patricia,PERRET Frederic,CRETTAZ David,TISSOT Jean Daniel,BOESPFLUG-TANGUY Odile,STOCKLIN Reto,BULET Philippe
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 840(1), 20-28, 2006-08-07
NAID 10025785665

Related Pictures

図3 eIF2Bを介したストレス応答 Translation matters: protein synthesis eIF2B is a dimer of pentamers. で確認されたeIF2Bの変異の分布 Recycling of eIF2 by eIF2B and Regulation EIF2B - 维基百科，自由的百科全 Vanishing White Matter: The Next 10 Years Figure 2 : Recycling of eIF2 by eIF2B and

★リンクテーブル★

リンク元	「真核生物翻訳開始因子2B」「eukaryotic initiation factor-2B」「eukaryotic translation initiation factor 2B」
関連記事	「eIF2」「eIF」