Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients (Q24322771)

Eukaryotic translation initiation factor 2B subunit delta

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Eukaryotic translation initiation factor 2B subunit gamma

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Eukaryotic translation initiation factor 2B subunit beta

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guanyl-nucleotide exchange factor activity

1 reference

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Enrico Bertini

5

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Anne Fogli

object named as

Anne Fogli

1

1 reference

ORCID Public Data File 2021

author name string

Raphael Schiffmann

2

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Lynne Hugendubler

3

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Patricia Combes

4

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Diana Rodriguez

6

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Scot R Kimball

7

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Odile Boespflug-Tanguy

European Journal of Human Genetics

8

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language of work or name

English

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publication date

July 2004

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published in

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volume

12

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issue

7

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page(s)

561-6

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cites work

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter

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Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

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Childhood ataxia with diffuse central nervous system hypomyelination

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A new leukoencephalopathy with vanishing white matter.

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Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases

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Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome

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Leukoencephalopathy among native Indian infants in northern Quebec and Manitoba

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A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation

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Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus

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Ovarian failure related to eukaryotic initiation factor 2B mutations

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Identification of domains and residues within the epsilon subunit of eukaryotic translation initiation factor 2B (eIF2Bepsilon) required for guanine nucleotide exchange reveals a novel activation function promoted by eIF2B complex formation

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Mammalian stress granules represent sites of accumulation of stalled translation initiation complexes

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Eukaryotic initiation factor 2B (eIF2B).

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Brain abnormalities, defective meiotic chromosome synapsis and female subfertility in HSF2 null mice

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Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27

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Role of translation initiation factor eIF-2B in the regulation of protein synthesis in mammalian cells

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7 January 2021

The effect of genotype on the natural history of eIF2B-related leukodystrophies

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7 January 2021

A routine method for the establishment of permanent growing lymphoblastoid cell lines

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Initiation of protein synthesis in a cell-free system prepared from rat hepatocytes.

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Initiation factor eIF2 alpha phosphorylation in stress responses and apoptosis.

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7 January 2021