| Shielding the mRNA-translation factor eIF2B from inhibitory p-eIF2 as a viral strategy to evade protein kinase R-mediated innate immunity. | Shielding the mRNA-translation factor eIF2B from inhibitory p-eIF2 as a viral strategy to evade protein kinase R-mediated innate immunity.
Wuerth JD, Weber F. | 11/12/2022 |
| Our results establish de novo EIF2B1 mutations as a novel cause of permanent diabetes and liver dysfunction. These findings confirm the importance of cell stress regulation for beta-cells and highlight EIF2B1's fundamental role within this pathway. | De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction.
De Franco E, Caswell R, Johnson MB, Wakeling MN, Zung A, Dũng VC, Bích Ngọc CT, Goonetilleke R, Vivanco Jury M, El-Khateeb M, Ellard S, Flanagan SE, Ron D, Hattersley AT., Free PMC Article | 08/13/2020 |
| Data show that eIF2Balpha and eIF2Bbeta bind to adjacent surfaces on eIF2alpha-N-terminal domains (NTDs). | Novel mechanisms of eIF2B action and regulation by eIF2α phosphorylation.
Bogorad AM, Lin KY, Marintchev A., Free PMC Article | 12/16/2017 |
| Oligodendrocytes with truncated or deletion mutants eIF2B showed less tolerable to endoplasmic reticulum stress | Different Eukaryotic Initiation Factor 2Bε Mutations Lead to Various Degrees of Intolerance to the Stress of Endoplasmic Reticulum in Oligodendrocytes.
Chen N, Jiang YW, Hao HJ, Ban TT, Gao K, Zhang ZB, Wang JM, Wu Y., Free PMC Article | 05/14/2016 |
| These data emphasize the importance of eIF2Balpha in mediating the eIF2 kinase translation-inhibitory activity and may provide insight into the complex nature of vesiculovirus oncolysis. | The alpha subunit of eukaryotic initiation factor 2B (eIF2B) is required for eIF2-mediated translational suppression of vesicular stomatitis virus.
Elsby R, Heiber JF, Reid P, Kimball SR, Pavitt GD, Barber GN., Free PMC Article | 11/5/2011 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Crystal structure of the alpha subunit of human translation initiation factor 2B. | Crystal structure of the alpha subunit of human translation initiation factor 2B.
Hiyama TB, Ito T, Imataka H, Yokoyama S. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesGene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. 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. | 07/30/2008 |
| The authors suspected VWM and sequenced the genes EIF2B1-5, which revealed one heterozygous mutation in EIF2B4. | 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. | 01/21/2010 |
| Study reports 9 novel mutations in EIF2B genes in 8 patients, increasing number of known mutations to more than 120. Using homology modeling, analyzed the impact of novel mutations on the 5 subunits of eIF2B protein (alpha, beta, gamma, delta, epsilon) | 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. | 01/21/2010 |
| mutational analysis of the eIF2B genes of patients with an antenatal- or early-infantile-onset encephalopathy and an early demise | 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., Free PMC Article | 01/21/2010 |
| Biochemical analyses indicate that mutations analyzed in eIF2Balpha and -epsilon reduce the steady-state level of the affected subunit, while the most severe mutant tested, eIF2Bbeta(V341D), forms complexes with reduced stability and lower eIF2B activity. | Mutations causing childhood ataxia with central nervous system hypomyelination reduce eukaryotic initiation factor 2B complex formation and activity.
Richardson JP, Mohammad SS, Pavitt GD., Free PMC Article | 01/21/2010 |
| analysis of novel mutations in patients with eIF2B-related disorders | Identification of ten novel mutations in patients with eIF2B-related disorders.
Ohlenbusch A, Henneke M, Brockmann K, Goerg M, Hanefeld F, Kohlschütter A, Gärtner J. | 01/21/2010 |