Format
Sort by
Items per page

Send to

Choose Destination

Links from Gene

Items: 1 to 20 of 60

1.

A rare mutation in EIF2B4 gene in an epileptic child with vanishing white matter disease: a case report.

Gungor O, Ozkaya AK, Hirfanoglu T, Dilber C, Aydin K.

Genet Couns. 2015;26(1):41-6.

PMID:
26043506
2.

Pharmacological dimerization and activation of the exchange factor eIF2B antagonizes the integrated stress response.

Sidrauski C, Tsai JC, Kampmann M, Hearn BR, Vedantham P, Jaishankar P, Sokabe M, Mendez AS, Newton BW, Tang EL, Verschueren E, Johnson JR, Krogan NJ, Fraser CS, Weissman JS, Renslo AR, Walter P.

Elife. 2015 Apr 15;4:e07314. doi: 10.7554/eLife.07314.

3.

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
4.

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.

5.

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
6.

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.

7.

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.

8.

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
9.

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
11.

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
12.

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
13.

Reduced amino acid availability inhibits muscle protein synthesis and decreases activity of initiation factor eIF2B.

Kobayashi H, Børsheim E, Anthony TG, Traber DL, Badalamenti J, Kimball SR, Jefferson LS, Wolfe RR.

Am J Physiol Endocrinol Metab. 2003 Mar;284(3):E488-98.

14.

[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
15.

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
16.

The delta-subunit of murine guanine nucleotide exchange factor eIF-2B. Characterization of cDNAs predicts isoforms differing at the amino-terminal end.

Henderson RA, Krissansen GW, Yong RY, Leung E, Watson JD, Dholakia JN.

J Biol Chem. 1994 Dec 2;269(48):30517-23.

17.

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.

18.

Screening for known mutations in EIF2B genes in a large panel of patients with premature ovarian failure.

Fogli A, Gauthier-Barichard F, Schiffmann R, Vanderhoof VH, Bakalov VK, Nelson LM, Boespflug-Tanguy O.

BMC Womens Health. 2004 Oct 26;4(1):8.

19.

eIF2B, the guanine nucleotide-exchange factor for eukaryotic initiation factor 2. Sequence conservation between the alpha, beta and delta subunits of eIF2B from mammals and yeast.

Price NT, Mellor H, Craddock BL, Flowers KM, Kimball SR, Wilmer T, Jefferson LS, Proud CG.

Biochem J. 1996 Sep 1;318 ( Pt 2):637-43.

20.

Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients.

Fogli A, Schiffmann R, Hugendubler L, Combes P, Bertini E, Rodriguez D, Kimball SR, Boespflug-Tanguy O.

Eur J Hum Genet. 2004 Jul;12(7):561-6.

Supplemental Content

Support Center