Citations for
1EIF2B5, VWM1
Leukoencephalopathy with vanishing white matter: a review.
Bugiani M, Boor I, Powers JM, Scheper GC, van der Knaap MS.
J Neuropathol Exp Neurol 69(10):987-96.PMID: 20838246 2010
2EIF2B5
Ectopic expression of eIF2Bepsilon in rat skeletal muscle rescues the sepsis-induced reduction in guanine nucleotide exchange activity and protein synthesis.
Tuckow AP, Vary TC, Kimball SR, Jefferson LS.
Am J Physiol Endocrinol Metab 299(2):E241-8. Epub 2010 May 18.PMID: 20484009 2010
3EIF2B5, VWM1
Late-onset vanishing white matter disease with compound heterozygous EIF2B5 gene mutations.
Lee HN, Koh SH, Lee KY, Ki CS, Lee YJ.
Eur J Neurol 16(3):e42-3. Epub 2008 Dec 23. No abstract available. PMID: 19170749 2009
4EIF2B1, EIF2B5, VWM1, VWM3
A point mutation in translation initiation factor 2B leads to a continuous hyper stress state in oligodendroglial-derived cells.
Kantor L, Pinchasi D, Mintz M, Hathout Y, Vanderver A, Elroy-Stein O.
PLoS One 3(11):e3783. Epub 2008 Nov 21.PMID: 19023445 2008
5EIF2B5, VWM1
Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy.
Jansen AC, Andermann E, Niel F, Creveaux I, Boespflug-Tanguy O, Andermann F.
Epilepsia 49(5):910-3. Epub 2008 Feb 7.PMID: 18266750 2008
6EIF2B5, VWM1
Exon deletion in the non-catalytic domain of eIF2Bepsilon due to a splice site mutation leads to infantile forms of CACH/VWM with severe decrease of eIF2B GEF activity.
Horzinski L, Gonthier C, Rodriguez D, Scherer C, Boespflug-Tanguy O, Fogli A.
Ann Hum Genet 72(Pt 3):410-5. Epub 2008 Feb 19.PMID: 18294360 2008
7EIF2B5, VWM1
Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation.
Federico A, Scali O, Stromillo ML, Di Perri C, Bianchi S, Sicurelli F, De Stefano N, Malandrini A, Dotti MT.
Neurology 67(2):353-5. 2006
8EIF2B5, VWM1
EIF2B5 mutations compromise GFAP(+) astrocyte generation in vanishing white matter leukodystrophy.
Dietrich J, Lacagnina M, Gass D, Richfield E, Mayer-Proschel M, Noble M, Torres C, Proschel C.
Nat Med 11(3):277-83. Epub 2005 Feb 20. 2005
9VWM1, VWM2, VWM3, VWM4, VWM5, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5
Identification of ten novel mutations in patients with eIF2B-related disorders.
Ohlenbusch A, Henneke M, Brockmann K, Goerg M, Hanefeld F, Kohlschutter A, Gartner J.
Hum Mutat 25(4):411. 2005
10EIF2B5, VWM1
Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5.
Ohtake H, Shimohata T, Terajima K, Kimura T, Jo R, Kaseda R, Iizuka O, Takano M, Akaiwa Y, Goto H, Kobayashi H, Sugai T, Muratake T, Hosoki T, Shioiri T, Okamoto K, Onodera O, Tanaka K, Someya T, Nakada T, Tsuji S.
Neurology 62(9):1601-3. 2004
11EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5
The life and death of oligodendrocytes in vanishing white matter disease.
Van Haren K, van der Voorn JP, Peterson DR, van der Knaap MS, Powers JM.
J Neuropathol Exp Neurol 63(6):618-30. 2004
12EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5
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 24(6):2352-63. 2004
13EIF2B2, EIF2B5, VWM1, VWM2
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 73(6):1199-207. Epub 2003 Oct 17. 2003
14EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5
Characterization of the mammalian initiation factor eIF2B complex as a GDP dissociation stimulator protein.
Williams DD, Price NT, Loughlin AJ, Proud CG.
J Biol Chem 276(27):24697-703. Epub 2001 Apr 25. 2001
15EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5
Identification of domains and residues within the epsilon subunit of eukaryotic translation initiation factor 2B (eIF2Bepsilon) required for guanine nucleotide exchange reveals a novel activation function promoted by eIF2B complex formation.
Gomez E, Pavitt GD.
Mol Cell Biol 20(11):3965-76. 2000
16EIF2B5
Cloning and characterization of cDNAs encoding the epsilon-subunit of eukaryotic initiation factor-2B from rabbit and human.
Asuru AI, et al.
Biochim Biophys Acta 1307(3):309-17 1996