Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 157

4.

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.

van der Knaap MS, Leegwater PA, Könst AA, Visser A, Naidu S, Oudejans CB, Schutgens RB, Pronk JC.

Ann Neurol. 2002 Feb;51(2):264-70.

PMID:
11835386
5.

The large spectrum of eIF2B-related diseases.

Fogli A, Boespflug-Tanguy O.

Biochem Soc Trans. 2006 Feb;34(Pt 1):22-9. Review.

PMID:
16246171
6.

[Eukaryotic translation initiation factor 2B and leukoencephalopathy with vanishing white matter].

Pan YX, Wu Y, Niu ZP, Jiang YW.

Beijing Da Xue Xue Bao. 2009 Oct 18;41(5):608-10. Review. Chinese.

7.

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. doi: 10.1371/journal.pone.0053958.

8.

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.

Leegwater PA, Vermeulen G, Könst AA, Naidu S, Mulders J, Visser A, Kersbergen P, Mobach D, Fonds D, van Berkel CG, Lemmers RJ, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS.

Nat Genet. 2001 Dec;29(4):383-8.

PMID:
11704758
9.

eIF2B, a mediator of general and gene-specific translational control.

Pavitt GD.

Biochem Soc Trans. 2005 Dec;33(Pt 6):1487-92. Review.

PMID:
16246152
10.

Poor cerebral inflammatory response in eIF2B knock-in mice: implications for the aetiology of vanishing white matter disease.

Cabilly Y, Barbi M, Geva M, Marom L, Chetrit D, Ehrlich M, Elroy-Stein O.

PLoS One. 2012;7(10):e46715. doi: 10.1371/journal.pone.0046715.

11.

Regulation of protein synthesis in lymphoblasts from vanishing white matter patients.

van Kollenburg B, Thomas AA, Vermeulen G, Bertrand GA, van Berkel CG, Pronk JC, Proud CG, van der Knaap MS, Scheper GC.

Neurobiol Dis. 2006 Mar;21(3):496-504.

PMID:
16185887
12.

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. doi: 10.1042/BST20150164. Review.

PMID:
26614666
13.

eIF2B-related disorders: antenatal onset and involvement of multiple organs.

van der Knaap MS, van Berkel CG, Herms J, van Coster R, Baethmann M, Naidu S, Boltshauser E, Willemsen MA, Plecko B, Hoffmann GF, Proud CG, Scheper GC, Pronk JC.

Am J Hum Genet. 2003 Nov;73(5):1199-207.

15.

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
16.

Crystal structure of the alpha subunit of human translation initiation factor 2B.

Hiyama TB, Ito T, Imataka H, Yokoyama S.

J Mol Biol. 2009 Oct 2;392(4):937-51. doi: 10.1016/j.jmb.2009.07.054.

PMID:
19631657
17.

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. Review.

PMID:
16998732
18.

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.

PMID:
18061208
19.

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.

20.

[From gene to disease; a defect in the regulation of protein production leading to vanishing white matter].

Pronk JC, Leegwater PA, van der Knaap MS.

Ned Tijdschr Geneeskd. 2002 Oct 12;146(41):1933-6. Dutch.

PMID:
12404908

Supplemental Content

Support Center