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EIF2B2 gene
Known as:
EIF2B-BETA
, EIF2B
, eukaryotic translation initiation factor 2B subunit beta
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This gene plays a role in the regulation of protein translation.
National Institutes of Health
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Related topics
Related topics
11 relations
EIF2B1 protein, human
EIF2B4 gene
EIF2B4 protein, human
EIF2B5 gene
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Paradoxical Sensitivity to an Integrated Stress Response Blocking Mutation in Vanishing White Matter Cells
Y. Sekine
,
A. Zyryanova
,
Ana Crespillo-Casado
,
Niko Amin-Wetzel
,
H. Harding
,
D. Ron
PloS one
2016
Corpus ID: 24490032
The eukaryotic translation initiation factor eIF2B promotes mRNA translation as a guanine nucleotide exchange factor (GEF) for…
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2012
2012
An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease
S. Shimada
,
K. Miya
,
+5 authors
Toshiyuki Yamamoto
American journal of medical genetics. Part A
2012
Corpus ID: 19840269
Leukodystrophy with vanishing white matter (VWM) is a neurodegenerative disorder with autosomal recessive traits that is caused…
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2012
2012
Developmental Splicing Deregulation in Leukodystrophies Related to EIF2B Mutations
A. Huyghe
,
L. Horzinski
,
+7 authors
A. Fogli
PloS one
2012
Corpus ID: 17018707
Leukodystrophies (LD) are rare inherited disorders that primarily affect the white matter (WM) of the central nervous system. The…
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2011
2011
Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5
T. Matsukawa
,
Xuemin Wang
,
+15 authors
S. Tsuji
neurogenetics
2011
Corpus ID: 5748876
Leukoencephalopathy with vanishing white matter (VWM) is a type of leukoencephalopathy with autosomal recessive inheritance…
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Highly Cited
2011
Highly Cited
2011
Technical note: Validation of candidate reference genes for normalization of quantitative PCR in bovine mammary epithelial cells responding to inflammatory stimuli.
S. Bougarn
,
P. Cunha
,
F. Gilbert
,
F. Meurens
,
P. Rainard
Journal of dairy science
2011
Corpus ID: 25236189
Mammary epithelial cells (MEC) participate in the first line of defense of the mammary gland to invading pathogens. In vitro…
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Highly Cited
2011
Highly Cited
2011
Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes
R. Liu
,
Hannemieke D. W. van der Lei
,
+8 authors
C. Proud
Human mutation
2011
Corpus ID: 9455692
Autosomal recessive mutations in eukaryotic initiation factor 2B (eIF2B) cause leukoencephalopathy vanishing white matter with a…
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Review
2009
Review
2009
Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.
P. Labauge
,
L. Horzinski
,
+14 authors
O. Boespflug-Tanguy
Brain : a journal of neurology
2009
Corpus ID: 46637973
Mutations in one of the five eukaryotic initiation factor 2B genes (EIF2B1-5) were first described in childhood ataxia with…
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Review
2006
Review
2006
Vanishing white matter disease: a review with focus on its genetics.
J. Pronk
,
Barbara van Kollenburg
,
G. Scheper
,
M. S. van der Knaap
Mental retardation and developmental disabilities…
2006
Corpus ID: 26211445
Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive brain disorder, most often with a childhood onset…
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2005
2005
Identification of ten novel mutations in patients with eIF2B‐related disorders
A. Ohlenbusch
,
M. Henneke
,
+4 authors
J. Gärtner
Human mutation
2005
Corpus ID: 24573406
Autosomal recessive inherited mutations in each of the five eukaryotic initiation factor 2B (eIF2B) subunits are known to cause…
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Highly Cited
2001
Highly Cited
2001
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter
P. Leegwater
,
Gerre Vermeulen
,
+13 authors
M. V. Knaap
Nature Genetics
2001
Corpus ID: 20313523
Leukoencephalopathy with vanishing white matter (VWM) is an inherited brain disease that occurs mainly in children. The course is…
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