Citations for
1EIF2B2
The N-terminal domain of the human eIF2beta subunit and the CK2 phosphorylation sites are required for its function.
Llorens F, Duarri A, Sarró E, Roher N, Plana M, Itarte E.
Biochem J 394(Pt 1):227-36. 2006
2VWM1, 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
3EIF2B1, 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
4EIF2B1, 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
5EIF2B2, 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
6EIF2B2, VWM2
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
Leegwater PA, Vermeulen G, Konst 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 29(4):383-8. 2001
7EIF2B1, 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
8EIF2B1, 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
9ABCB6, ADCK2, ANAPC7, ANKRD46, ASPHD1, AVPI1, AZIN1, BRINP2, C12orf24, C14orf79, C17orf90, C17orf91, C5orf15, C9orf127, C9orf25, C9orf82, CNIH3, COG3, COG7, CREB3L1, CSRNP2, DHX29, DHX57, DLAT, EIF2B2, ERI3, FAM13C1, FAM35A, FAM54B, FLAD1, GHITM, GRIP2, GRPEL1, HMGCLL1, IP6K2, IP6K2, ITGB1BP1, KCMF1, KIFC2, LRP10, MDM1, MFN1, NAPG, NCALD, NECAB2, NIPAL4, NPTN, NTNG2, PASK, PCDHB10, PDIA6, PHPT1, PI4K2A, PNPLA2, POGK, PTOV1, RNF13, RNF41, SAC3D1, SDCBP2, SELT, SLC38A6, SLC39A3, SMURF1, SPRED2, SUCLG2, TMCO1, TMEM183A, TP53I11, TRPC4AP, TSC22D3, TUBB, TXNDC12, UTP18, WDR40A, WDR77, WSB2, ZMIZ1
Large-scale concatenation cDNA sequencing.
Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY,Wentland MA, Lennon G, Gibbs RA.
Genome Res 7(4):353-8. 1997
10ADCK2, ANAPC7, ARHGAP22, AVPI1, AZIN1, C12orf24, C14orf79, C5orf15, C9orf25, CNIH3, COG3, COG7, CREB3L1, DHX29, DHX57, DLAT, DLGAP3, EIF2B2, EXOC3, FAM13C1, FAM152B, FAM35A, FAM54B, FAM89B, FLAD1, GHITM, GRPEL1, HMGCLL1, IP6K2, IPO4, ITGB1BP1, KCMF1, KIFC2, LRP10, MDM1, MFN1, NAPG, NCALD, NECAB2, NPTN, NTNG2, PASK, PCDHB10, PHPT1, PI4K2A, PNPLA2, POGK, PTOV1, RNF41, SAC3D1, SDCBP2, SELT, SEMA6C, SLC38A6, SLC39A3, SMURF1, SPRED2, STX12, SUCLG2, TAX1BP3, TMEM183A, TP53I11, TRAPPC3, TRPC4AP, TSC22D3, TUBB, TXNDC12, UTP18, WDFY3, WDR40A, WDR77, WSB2, ZMIZ1, ZNF410, ZXDC
A double adaptor method for improved shotgun library construction.
Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA.
Anal Biochem 236(1):107-13. 1996
11AD3, PSEN1, NUMB, EIF2B2 , RGS6 , VWM2
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
Sherrington R, et al.
Nature 375 : 754-760. 1995