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Items: 18

1.

DAP5 associates with eIF2β and eIF4AI to promote Internal Ribosome Entry Site driven translation.

Liberman N, Gandin V, Svitkin YV, David M, Virgili G, Jaramillo M, Holcik M, Nagar B, Kimchi A, Sonenberg N.

Nucleic Acids Res. 2015 Apr 20;43(7):3764-75. doi: 10.1093/nar/gkv205. Epub 2015 Mar 16.

2.

Adult-onset vanishing white matter disease with novel missense mutations in a subunit of translational regulator, EIF2B4.

Kanbayashi T, Saito F, Matsukawa T, Oba H, Hokkoku K, Hatanaka Y, Tsuji S, Sonoo M.

Clin Genet. 2015 Oct;88(4):401-3. doi: 10.1111/cge.12554. Epub 2015 Jan 20. No abstract available.

PMID:
25600065
3.

Developmental splicing deregulation in leukodystrophies related to EIF2B mutations.

Huyghe A, Horzinski L, Hénaut A, Gaillard M, Bertini E, Schiffmann R, Rodriguez D, Dantal Y, Boespflug-Tanguy O, Fogli A.

PLoS One. 2012;7(6):e38264. doi: 10.1371/journal.pone.0038264. Epub 2012 Jun 21.

4.

Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.

Liu R, van der Lei HD, Wang X, Wortham NC, Tang H, van Berkel CG, Mufunde TA, Huang W, van der Knaap MS, Scheper GC, Proud CG.

Hum Mutat. 2011 Sep;32(9):1036-45. doi: 10.1002/humu.21535.

PMID:
21560189
5.

[Vanishing white matter disease: a stress-related leukodystrophy].

Prange H, Weber T.

Nervenarzt. 2011 Oct;82(10):1330-4. doi: 10.1007/s00115-011-3284-9. German. No abstract available.

PMID:
21503715
6.

A large-scale candidate gene association study of age at menarche and age at natural menopause.

He C, Kraft P, Chasman DI, Buring JE, Chen C, Hankinson SE, Paré G, Chanock S, Ridker PM, Hunter DJ.

Hum Genet. 2010 Nov;128(5):515-27. doi: 10.1007/s00439-010-0878-4. Epub 2010 Aug 24.

7.

Regulation of the unfolded protein response by eif2Bdelta isoforms.

Martin L, Kimball SR, Gardner LB.

J Biol Chem. 2010 Oct 15;285(42):31944-53. doi: 10.1074/jbc.M110.153148. Epub 2010 Aug 13.

8.

Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes.

Naukkarinen J, Surakka I, Pietiläinen KH, Rissanen A, Salomaa V, Ripatti S, Yki-Järvinen H, van Duijn CM, Wichmann HE, Kaprio J, Taskinen MR, Peltonen L; ENGAGE Consortium.

PLoS Genet. 2010 Jun 3;6(6):e1000976. doi: 10.1371/journal.pgen.1000976.

9.

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 15;4(12):e8318. doi: 10.1371/journal.pone.0008318.

10.

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

Wu Y, Pan Y, Du L, Wang J, Gu Q, Gao Z, Li J, Leng X, Qin J, Wu X, Jiang Y.

J Hum Genet. 2009 Feb;54(2):74-7. doi: 10.1038/jhg.2008.10. Epub 2009 Jan 16.

PMID:
19158808
11.

No evidence that polymorphisms of the vanishing white matter disease genes are risk factors in multiple sclerosis.

Pronk J, Scheper G, van Andel R, van Berkel C, Polman Ch, Uitdehaag B, van der Knaap M.

Mult Scler. 2008 Sep;14(8):1123-6. doi: 10.1177/1352458508093618. Epub 2008 Jul 16.

PMID:
18632786
12.

Vanishing white matter disease: the first reported chinese patient.

Wong SS, Luk DC, Wong VC, Scheper GC, van der Knaap MS.

J Child Neurol. 2008 Jun;23(6):710-4. doi: 10.1177/0883073808314154.

PMID:
18539998
13.

Conversion of a normal MRI into an MRI showing a cystic leukoencephalopathy is not a known feature of vanishing white matter.

van der Knaap MS, Schiffmann R, Scheper GC.

Neuropediatrics. 2007 Oct;38(5):264. doi: 10.1055/s-2008-1046788. No abstract available.

PMID:
18330844
14.

Genetic and clinical heterogeneity in eIF2B-related disorder.

Maletkovic J, Schiffmann R, Gorospe JR, Gordon ES, Mintz M, Hoffman EP, Alper G, Lynch DR, Singhal BS, Harding C, Amartino H, Brown CM, Chan A, Renaud D, Geraghty M, Jensen L, Senbil N, Kadom N, Nazarian J, Yuanjian Feng, Zuyi Wang, Hartka T, Morizono H, Vanderver A.

J Child Neurol. 2008 Feb;23(2):205-15. doi: 10.1177/0883073807308705.

PMID:
18263758
16.

A case of ovarioleukodystrophy without eIF2B mutations.

Gaudiano C, Di Perri C, Scali O, Rufa A, Battisti C, De Stefano N, Federico A.

J Neurol Sci. 2008 May 15;268(1-2):183-6. Epub 2007 Dec 3.

PMID:
18061208
17.

Acute neurological deterioration in ovarioleukodystrophy related to EIF2B mutations: pregnancy with oocyte donation is a potentially precipitating factor.

Peter L, Niel F, Catenoix H, Jung J, Demarquay G, Petiot P, Rudigoz RC, Boespflug-Tanguy O, Ryvlin P, Mauguière F.

Eur J Neurol. 2008 Jan;15(1):94-7. Epub 2007 Nov 14.

PMID:
18005052
18.

Ovarian failure related to eukaryotic initiation factor 2B mutations.

Fogli A, Rodriguez D, Eymard-Pierre E, Bouhour F, Labauge P, Meaney BF, Zeesman S, Kaneski CR, Schiffmann R, Boespflug-Tanguy O.

Am J Hum Genet. 2003 Jun;72(6):1544-50. Epub 2003 Apr 21.

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