EIF2B4 Antibody

1. A novel missense mutation within EIF2B4 is associated with vanishing white matter disease. PMID: 25600065
2. demonstrate that DAP5 associates with eIF2beta and eIF4AI to stimulate IRES-dependent translation of cellular mRNAs PMID: 25779044
3. The functional effects of selected vanishing white matter disease mutations in EIF2B2-5 by coexpressing mutated and wild-type subunits in human cells. PMID: 21560189
4. analysis of developmental splicing deregulation in leukodystrophies related to EIF2B mutations PMID: 22737209
5. A mutation .626G>A [p.Arg209Gln] in exon 7 and c.1399C>T [p.Arg467Trp] in exon 13 of the EIF2B4-Gens. PMID: 21503715
6. Data demonstrate that cellular response resulting from eIF2alpha phosphorylation is attenuated in several cancer cell lines, and correlates with the expression of a specific isoform of a regulatory eIF2B subunit, eIF2Bdelta variant 1 (V1). PMID: 20709751
7. These results validate the measurement of eIF2B GEF activity in patients' transformed-lymphocytes as an important tool for the diagnosis of eIF2B-related disorders. PMID: 20016818
8. A unique EIF2B mutation spectrum in Chinese Vanishing white matter patients was shown. PMID: 19158808
9. Mutation in EIF2B4 causes childhood ataxia with central nervous system hypomyelination/ vanishing white matter leukodystrophy. PMID: 12707859
10. We report for the first time that in vitro fertilization and embryo transfer can lead to a successful procreation in patients with OLD related to EIF2B mutations. PMID: 18005052
11. This study describe here a case suggestive of ovarioleukodistrophy carrying no eIF2B mutations. PMID: 18061208
12. A novel mechanism for the control of translation initiation by amino acids, mediated by phosphorylation of EIF-2B, is reported. PMID: 18160716
13. 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) PMID: 18263758
14. The authors suspected VWM and sequenced the genes EIF2B1-5, which revealed one heterozygous mutation in EIF2B4. PMID: 18330844
15. We describe the first Chinese patient with typical clinical and radiological features genetically confirmed to have vanishing white matter disease for a mutation in EIF2B4. PMID: 18539998

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HGNC: 3260

OMIM: 603896

KEGG: hsa:8890

STRING: 9606.ENSP00000394869

UniGene: Hs.169474