(Q28204796)

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G Vermeulen

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A A Könst

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S Naidu

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J Mulders

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A Visser

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P Kersbergen

7

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D Mobach

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D Fonds

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C G van Berkel

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R J Lemmers

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R R Frants

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C B Oudejans

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R B Schutgens

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J C Pronk

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M S van der Knaap

Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy

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language of work or name

English

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publication date

December 2001

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published in

Nature Genetics

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volume

29

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issue

4

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page(s)

383-8

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cites work

1 reference

7 January 2021

Childhood ataxia with diffuse central nervous system hypomyelination

1 reference

7 January 2021

A new leukoencephalopathy with vanishing white matter

1 reference

7 January 2021

Phenotypic variation in leukoencephalopathy with vanishing white matter

1 reference

7 January 2021

The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27

1 reference

7 January 2021

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1 reference

7 January 2021

Conserved bipartite motifs in yeast eIF5 and eIF2Bepsilon, GTPase-activating and GDP-GTP exchange factors in translation initiation, mediate binding to their common substrate eIF2.

1 reference

7 January 2021

Identification of domains within the epsilon-subunit of the translation initiation factor eIF2B that are necessary for guanine nucleotide exchange activity and eIF2B holoprotein formation

1 reference

7 January 2021

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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7 January 2021

eIF2 independently binds two distinct eIF2B subcomplexes that catalyze and regulate guanine-nucleotide exchange.

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7 January 2021

Regulation of translation initiation factors by signal transduction

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7 January 2021

Two different signal transduction pathways are implicated in the regulation of initiation factor 2B activity in insulin-like growth factor-1-stimulated neuronal cells

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7 January 2021

Modulation of rabbit reticulocyte guanine nucleotide exchange factor activity by casein kinases 1 and 2 and glycogen synthase kinase 3

1 reference

7 January 2021

Regulation of eukaryotic initiation factor eIF2B: glycogen synthase kinase-3 phosphorylates a conserved serine which undergoes dephosphorylation in response to insulin

1 reference

7 January 2021

Inactivation of eIF2B and phosphorylation of PHAS-I in heat-shocked rat hepatoma cells

1 reference

7 January 2021

Inactivation of eukaryotic initiation factor 2B in vitro by heat shock

1 reference

7 January 2021

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome

1 reference

7 January 2021

eIF2B, the guanine nucleotide-exchange factor for eukaryotic initiation factor 2. Sequence conservation between the alpha, beta and delta subunits of eIF2B from mammals and yeast

1 reference

7 January 2021

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

7 January 2021