| Mutational analysis of the alpha subunit of eIF2B provides insights into the role of eIF2B bodies in translational control and VWM disease. | Mutational analysis of the alpha subunit of eIF2B provides insights into the role of eIF2B bodies in translational control and VWM disease.
Norris K, Hodgson RE, Dornelles T, Allen KE, Abell BM, Ashe MP, Campbell SG., Free PMC Article | 08/21/2021 |
| 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 |
| It would be better to consider Vanishing White Matter Disease as an eIF2B-related multisystem disorder, not just as a neurological disorder. | eIF2B-related multisystem disorder in two sisters with atypical presentations.
Lee JS, Lee S, Choi M, Lim BC, Choi J, Kim KJ, Cheon JE, Kim IO, Chae JH. | 04/15/2017 |
| An Italian patient is described with a c.638A>G mutation in exon 5 of EIF2B2 gene with very slow progressive vanishing white matter disease. | Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.
Sambati L, Agati R, Bacci A, Bianchi S, Capellari S. | 03/22/2014 |
| analysis of vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype [case report] | Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype.
Alsalem A, Shaheen R, Alkuraya FS. | 04/14/2012 |
| 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 |
| Study reports 9 novel mutations in EIF2B genes in 8 patients, increasing number of known mutations to >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 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesA large-scale candidate gene association study of age at menarche and age at natural menopause.
He C, Kraft P, Chasman DI, Buring JE, Chen C, Hankinson SE, Paré G, Chanock S, Ridker PM, Hunter DJ. Gene-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 |
| CACH syndrome is linked to mutations in the five EIF2B--REVIEW | [CACH/VWM syndrome and leucodystrophies related to EIF2B mutations].
Labauge P, Fogli A, Niel F, Rodriguez D, Boespflug-Tanguy O. | 01/21/2010 |
| Mutation in EIF2B2 causes childhood ataxia with central nervous system hypomyelination/ vanishing white matter leukodystrophy. | Ovarian failure related to eukaryotic initiation factor 2B mutations.
Fogli A, Rodriguez D, Eymard-Pierre E, Bouhour F, Labauge P, Meaney BF, Zeesman S, Kaneski CR, Schiffmann R, Boespflug-Tanguy O., 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 |
| The role of the residues Ser2 and Ser67 contribute to the important role of the N-terminal region of eIF2beta for its function in mammals. | 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., Free PMC Article | 01/21/2010 |