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Exon-level analyses classified > 1,000 mRNAs as alternatively spliced under hypoxia and uncovered a unique retained intron (RI) in the master regulator of translation initiation, EIF2B5.
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This study demonstrated that no evidence for a role of Ile587Val polymorphism of EIF2B5 gene in multiple sclerosis in Kashmir Valley if India.
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Patient exhibits an early-infantile onset and progressive disease course resembling Cree leukoencephalopathy, suggesting a severe functional disruption of eIF2Bepsilon caused by R195H as well as by I408T mutations.
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Missense mutations in EIF2B5 are associated with multiple sclerosis.
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Also a mutation c.1913G>A[p.Arg638 His] in exon 14 of the EIF2B5-Gens as single nucleotide polymorphism.
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crystal structure of the guanine nucleotide exchange factor for elf2
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Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bepsilon (eIF2Bepsilon) identified in Chinese patients with vanishing white matter disease
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The clinical phenotype in vanishing white matter disease is influenced by the combination of both mutations(p.Arg113His and p.Thr91Ala/p.Arg339any). Females tend to do better than males.
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Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.
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Mutation in EIF2B5 causes childhood ataxia with central nervous system hypomyelination/ vanishing white matter leukodystrophy.
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We demonstrated that mutations in the gene EIF2B5 cause "leukoencephalopathy with vanishing white matter." This gene encodes one of the five subunits of the translation factor eIF2B.
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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.
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mutations in EIF2b5 causes a specific reduction in the generation of GFAP+ astrocytes in vanishing white matter disease
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Arg113His mutation in eIF2B5 associated with adult onset of vanishing white matter leukoencephalopathy is not present in multiple sclerosis patients
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We describe progressive megalencephaly and severe brain abnormalities due to specific EIF2Bepsilon mutations in two unrelated families.
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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)
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These data support the importance of the non-catalytic domain of the eIF2Bepsilon subunit in the eIF2B complex formation and activity.
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no evidence for the involvement of EIF2B5 in multiple sclerosis susceptibility in France
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Resistance exercise decreases eIF2Bepsilon phosphorylation and potentiates the feeding-induced stimulation of p70S6K1 and rpS6 in young men.