225 related articles for article (PubMed ID: 28126977)
1. [Three-dimensional Structure of eIF2B: A Clue to Understanding the Pathogenesis of CACH/VWM Disease].
Kashiwagi K; Ito T; Yokoyama S
Brain Nerve; 2017 Jan; 69(1):45-50. PubMed ID: 28126977
[TBL] [Abstract][Full Text] [Related]
2. A yeast purification system for human translation initiation factors eIF2 and eIF2Bε and their use in the diagnosis of CACH/VWM disease.
de Almeida RA; Fogli A; Gaillard M; Scheper GC; Boesflug-Tanguy O; Pavitt GD
PLoS One; 2013; 8(1):e53958. PubMed ID: 23335982
[TBL] [Abstract][Full Text] [Related]
3. Mutations causing childhood ataxia with central nervous system hypomyelination reduce eukaryotic initiation factor 2B complex formation and activity.
Richardson JP; Mohammad SS; Pavitt GD
Mol Cell Biol; 2004 Mar; 24(6):2352-63. PubMed ID: 14993275
[TBL] [Abstract][Full Text] [Related]
4. [Eukaryotic translation initiation factor 2B and leukoencephalopathy with vanishing white matter].
Pan YX; Wu Y; Niu ZP; Jiang YW
Beijing Da Xue Xue Bao Yi Xue Ban; 2009 Oct; 41(5):608-10. PubMed ID: 19829687
[TBL] [Abstract][Full Text] [Related]
5. eIF2B: recent structural and functional insights into a key regulator of translation.
Wortham NC; Proud CG
Biochem Soc Trans; 2015 Dec; 43(6):1234-40. PubMed ID: 26614666
[TBL] [Abstract][Full Text] [Related]
6. Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease.
Wortham NC; Proud CG
BMC Med Genet; 2015 Aug; 16():64. PubMed ID: 26285592
[TBL] [Abstract][Full Text] [Related]
7. A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy.
Takano K; Tsuyusaki Y; Sato M; Takagi M; Anzai R; Okuda M; Iai M; Yamashita S; Okabe T; Aida N; Tsurusaki Y; Saitsu H; Matsumoto N; Osaka H
Brain Dev; 2015 Jun; 37(6):638-42. PubMed ID: 25457085
[TBL] [Abstract][Full Text] [Related]
8. Astrocytes are central in the pathomechanisms of vanishing white matter.
Dooves S; Bugiani M; Postma NL; Polder E; Land N; Horan ST; van Deijk AL; van de Kreeke A; Jacobs G; Vuong C; Klooster J; Kamermans M; Wortel J; Loos M; Wisse LE; Scheper GC; Abbink TE; Heine VM; van der Knaap MS
J Clin Invest; 2016 Apr; 126(4):1512-24. PubMed ID: 26974157
[TBL] [Abstract][Full Text] [Related]
9. Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients.
Kantor L; Harding HP; Ron D; Schiffmann R; Kaneski CR; Kimball SR; Elroy-Stein O
Hum Genet; 2005 Oct; 118(1):99-106. PubMed ID: 16041584
[TBL] [Abstract][Full Text] [Related]
10. Vanishing white matter: deregulated integrated stress response as therapy target.
Abbink TEM; Wisse LE; Jaku E; Thiecke MJ; Voltolini-González D; Fritsen H; Bobeldijk S; Ter Braak TJ; Polder E; Postma NL; Bugiani M; Struijs EA; Verheijen M; Straat N; van der Sluis S; Thomas AAM; Molenaar D; van der Knaap MS
Ann Clin Transl Neurol; 2019 Aug; 6(8):1407-1422. PubMed ID: 31402619
[TBL] [Abstract][Full Text] [Related]
11. eIF2B, a mediator of general and gene-specific translational control.
Pavitt GD
Biochem Soc Trans; 2005 Dec; 33(Pt 6):1487-92. PubMed ID: 16246152
[TBL] [Abstract][Full Text] [Related]
12. Efficient detection of frequent eIF2B mutations for the rapid molecular diagnosis of CACH/VWM syndrome.
Ferreira MC; Dorboz I; Boespflug-Tanguy O
Clin Biochem; 2015 Dec; 48(18):1317-23. PubMed ID: 26162493
[TBL] [Abstract][Full Text] [Related]
13. Vanishing white matter disease expression of truncated EIF2B5 activates induced stress response.
Keefe MD; Soderholm HE; Shih HY; Stevenson TJ; Glaittli KA; Bowles DM; Scholl E; Colby S; Merchant S; Hsu EW; Bonkowsky JL
Elife; 2020 Dec; 9():. PubMed ID: 33300869
[TBL] [Abstract][Full Text] [Related]
14. The spectrum of mutations for the diagnosis of vanishing white matter disease.
Scali O; Di Perri C; Federico A
Neurol Sci; 2006 Sep; 27(4):271-7. PubMed ID: 16998732
[TBL] [Abstract][Full Text] [Related]
15. [CACH/VWM syndrome and leucodystrophies related to EIF2B mutations].
Labauge P; Fogli A; Niel F; Rodriguez D; Boespflug-Tanguy O
Rev Neurol (Paris); 2007 Sep; 163(8-9):793-9. PubMed ID: 17878805
[TBL] [Abstract][Full Text] [Related]
16. Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease.
Shimada S; Shimojima K; Sangu N; Hoshino A; Hachiya Y; Ohto T; Hashi Y; Nishida K; Mitani M; Kinjo S; Tsurusaki Y; Matsumoto N; Morimoto M; Yamamoto T
Brain Dev; 2015 Nov; 37(10):960-6. PubMed ID: 25843247
[TBL] [Abstract][Full Text] [Related]
17. The large spectrum of eIF2B-related diseases.
Fogli A; Boespflug-Tanguy O
Biochem Soc Trans; 2006 Feb; 34(Pt 1):22-9. PubMed ID: 16246171
[TBL] [Abstract][Full Text] [Related]
18. Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders.
Horzinski L; Huyghe A; Cardoso MC; Gonthier C; Ouchchane L; Schiffmann R; Blanc P; Boespflug-Tanguy O; Fogli A
PLoS One; 2009 Dec; 4(12):e8318. PubMed ID: 20016818
[TBL] [Abstract][Full Text] [Related]
19. Leukoencephalopathy with vanishing white matter: a review.
Bugiani M; Boor I; Powers JM; Scheper GC; van der Knaap MS
J Neuropathol Exp Neurol; 2010 Oct; 69(10):987-96. PubMed ID: 20838246
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]