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A novel missense mutation within EIF2B4 is associated with vanishing white matter disease.
demonstrate that DAP5 associates with eIF2beta and eIF4AI to stimulate IRES-dependent translation of cellular mRNAs
The functional effects of selected vanishing white matter disease mutations in EIF2B2 (zeige EIF2B2 Proteine)-5 by coexpressing mutated and wild-type subunits in human cells.
analysis of developmental splicing deregulation in leukodystrophies related to EIF2B (zeige EIF2B1 Proteine) mutations
A mutation .626G>A [p.Arg209Gln] in exon 7 and c.1399C>T [p.Arg467Trp] in exon 13 of the EIF2B4-Gens.
Data demonstrate that cellular response resulting from eIF2alpha (zeige EIF2A Proteine) phosphorylation is attenuated in several cancer cell lines, and correlates with the expression of a specific isoform of a regulatory eIF2B (zeige EIF2B1 Proteine) subunit, eIF2Bdelta variant 1 (V1).
These results validate the measurement of eIF2B (zeige EIF2B1 Proteine) GEF (zeige SLC2A4RG Proteine) activity in patients' transformed-lymphocytes as an important tool for the diagnosis of eIF2B (zeige EIF2B1 Proteine)-related disorders.
A unique EIF2B (zeige EIF2B1 Proteine) mutation spectrum in Chinese Vanishing white matter patients was shown.
Mutation in EIF2B4 causes childhood ataxia with central nervous system hypomyelination/ vanishing white matter leukodystrophy.
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 (zeige EIF2B1 Proteine) mutations.
Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.
eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
, translation initiation factor eIF-2B subunit delta
, translation initiation factor eIF2B delta subunit
, translation initiation factor eIF-2B subunit delta-like
, eIF-2B GDP-GTP exchange factor subunit delta
, eukaryotic translation initiation factor 2B subunit 4 delta
, translation initiation factor eIF-2b delta subunit