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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Dec 2016.

Eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa

The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] (from NCBI)
Top mentioned proteins: AGE, eIF2B, CLE, KRC, OUT
Papers on EIF2B3
Endoplasmic reticulum stress intolerance in EIF2B3 mutant oligodendrocytes is modulated by depressed autophagy.
Wu et al., Beijing, China. In Brain Dev, Dec 2015
METHODS: To determine the tolerance differences to ERS, cell viability and apoptosis rates were detected in oligodendrocyte cell lines transfected with EIF2B3-c.1037T>C
Adult-onset vanishing white matter disease as differential diagnosis of primary progressive multiple sclerosis: a case report.
Ilg et al., München, Germany. In Mult Scler, Apr 2015
Genetic testing showed vanishing white matter disease (VWM) with c.260C>T EIF2B3 mutation.
Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.
Wu et al., Beijing, China. In Plos One, 2014
There is a significantly higher incidence of patients with EIF2B3 mutations compared with Caucasian patients (32% vs. 4%).
Vanishing white matter disease in French-Canadian patients from Quebec.
Bernard et al., Ottawa, Canada. In Pediatr Neurol, 2014
RESULTS: Sequencing of the exons and intronic boundaries of the EIF2B1-5 genes revealed a rare 260C>T (A87V) missense mutation in EIF2B3 in two homozygous patients and one compound heterozygous patient.
Association mapping of the PARK10 region for Parkinson's disease susceptibility genes.
Zabetian et al., Seattle, United States. In Parkinsonism Relat Disord, 2014
BACKGROUND: Previous studies indicate that as many as six genes within the PARK10 region (RNF11, UQCRH, HIVEP3, EIF2B3, USP24, ELAVL4) might modify susceptibility or age at onset in Parkinson's disease (PD).
Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment.
Scarpa et al., San Giovanni Rotondo, Italy. In Bmc Med Genomics, 2012
A semantic hypergraph-based analysis highlighted five gene clusters significantly associated to important biological processes or pathways, and five genes, AHR, HIF1A, CRY1, ITGA5 and EIF2B3, proven to be central players in these pathways.
A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation.
Bresolin et al., Milano, Italy. In Neurology, 2012
Vanishing white matter (VWM; OMIM # 603896) is one of the most prevalent inherited childhood leukoencephalopathies.
Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.
Bernard et al., Montréal, Canada. In Arch Neurol, 2012
OBJECTIVE: To report a novel mutation in the gene EIF2B3 responsible for a late-onset form of vanishing white matter disease.
Childhood Ataxia with Cerebral Hypomyelination Syndrome: a Variant of Patient with Early Childhood Onset Related to EIF2B3 Mutation. A Case Report.
Macarini et al., Foggia, Italy. In Neuroradiol J, 2012
Childhood ataxia with central nervous system hypomyelination (CACH) syndrome is an autosomal recessive transmitted leukodystrophy characterised by early childhood onset and acute deterioration following febrile illnesses or head trauma.
Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.
Jiang et al., Beijing, China. In J Hum Genet, 2009
Mutations were identified exclusively in EIF2B5 and EIF2B3 in these patients, with six novel mutations, including five missense mutations (EIF2B5: c.185A>T, p.D62V; c.1004G>C, p.C335S; c.1126A>G, p.N376D; EIF2B3: c.140G>A, p.G47E; c.1037T>C, p.I346T) and one deletion leading to amino-acid deletion (EIF2B5: c.1827-1838del, p.S610-D613del).
Genetic and clinical heterogeneity in eIF2B-related disorder.
Vanderver et al., Washington, D.C., United States. In J Child Neurol, 2008
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)
Investigation of the PARK10 gene in Parkinson disease.
Vance et al., Durham, United States. In Ann Hum Genet, 2007
Two recent association mapping studies in Parkinson disease (PD) reported three candidate genes for the PARK10 locus: EIF2B3 as a modifier of age-at-onset of PD (min P= 0.0004) and HIVEP3 as a PD risk gene (P < or = 0.006) (Oliveira et al. 2005); and LOC200008 (CDCP2) identified by the whole genome association (WGA) study of PD of Maraganore et al. (2005).
The spectrum of mutations for the diagnosis of vanishing white matter disease.
Federico et al., Siena, Italy. In Neurol Sci, 2006
Vanishing white matter disease (VWM; MIM #603896), also known as childhood ataxia with central nervous system hypomyelination (CACH) syndrome, is an autosomal recessive transmitted leukoencephalopathy related to mutations in each of the 5 genes (EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5) encoding for the 5 subunits of eukaryotic translation initiation factor 2B (eIF2B), essential for protein synthesis.
Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.
Vance et al., Durham, United States. In Am J Hum Genet, 2005
Using the overall data set of 267 multiplex families, we identified six associated genes in the region, but further screening of a subset of 83 families linked to the chromosome 1 locus identified only two genes significantly associated with AAO in PD: the gamma subunit of the translation initiation factor EIF2B gene (EIF2B3), which was more significant in the linked subset and the ubiquitin-specific protease 24 gene (USP24).
Identification of ten novel mutations in patients with eIF2B-related disorders.
Gärtner et al., Göttingen, Germany. In Hum Mutat, 2005
In this study 15 well-characterised patients with the classical form of leukoencephalopathy with vanishing white matter (VWM) or with phenotypic variants like ovarioleukodystrophy were investigated for mutations in the genes EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 encoding eIF2B.
Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter
Boespflug-Tanguy et al., Seattle, United States. In Unknown Journal, 2003
DIAGNOSIS/TESTING: The diagnosis of CACH/VWM can be made with confidence in individuals with typical clinical findings, characteristic abnormalities on cranial MRI, and identifiable mutations in one of five genes (EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5), encoding the five subunits of the eukaryotic translation initiation factor 2B (eIF2B).
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