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Article

Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways.

Molecular and cellular biology - 1 Apr 2004

Li Wei, Wang Xuemin, Van Der Knaap Marjo S, Proud Christopher G

Abstract excerpt

Leukoencephalopathy with vanishing white matter (VWM) is a severe inherited human neurodegenerative disorder that is caused by mutations in the genes for the subunits of eukaryotic initiation factor 2B (eIF2B), a heteropentameric guanine nucleotide exchange factor that regulates both global and m...

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Identifiers

PMID: 15060152
DOI: 10.1128/MCB.24.8.3295-3306.2004
PMCID: PMC381664

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15060152-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways.PMID 15060152Read ↗

Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease.Semantic proximity Read ↗

Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.Semantic proximity Read ↗

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.Semantic proximity Read ↗

Mutational analysis of the alpha subunit of eIF2B provides insights into the role of eIF2B bodies in translational control and VWM disease.Semantic proximity Read ↗

Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations.Semantic proximity Read ↗

Identification of ten novel mutations in patients with eIF2B-related disorders.Semantic proximity Read ↗

[Eukaryotic translation initiation factor 2B and leukoencephalopathy with vanishing white matter].Semantic proximity Read ↗

Vanishing White Matter Disease Expression of Truncated EIF2B5 Activates Induced Stress ResponseSemantic proximity Read ↗

Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.Semantic proximity Read ↗

Mutations causing childhood ataxia with central nervous system hypomyelination reduce eukaryotic initiation factor 2B complex formation and activity.Semantic proximity Read ↗

Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease.Semantic proximity Read ↗

EIF2B2 mutations in vanishing white matter disease hypersuppress translation and delay recovery during the integrated stress response.Semantic proximity Read ↗

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