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Article

Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients.

Human genetics - 1 Oct 2005

Kantor Liraz, Harding Heather P, Ron David, Schiffmann Raphael, Kaneski Christine R, Kimball Scot R, Elroy-Stein Orna

Abstract excerpt

Childhood ataxia with central nervous system hypomyelination (CACH), also called vanishing white matter (VWM) leukoencephalopathy, is a fatal genetic disease caused by mutations in eukaryotic initiation factor 2B (eIF2B) genes. The five subunits eIF2B factor is critical for translation initiation under normal conditions and regulates protein synthesis in response to cellular stresses. Primary fibroblasts from...

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Source

Identifiers

PMID: 16041584
DOI: 10.1007/s00439-005-0024-x

Genes

ATF4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients.PMID 16041584Read ↗

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

Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients.Semantic proximity Read ↗

A Point Mutation in Translation Initiation Factor 2B Leads to a Continuous Hyper Stress State in Oligodendroglial-Derived CellsSemantic proximity Read ↗

eIF2B, a mediator of general and gene-specific translational control.Semantic proximity Read ↗

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

eIF2B activator prevents neurological defects caused by a chronic Integrated Stress ResponseSemantic proximity Read ↗

<i>De novo EIF2AK1</i> and <i>EIF2AK2</i> variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensationSemantic proximity Read ↗

Adult mouse eIF2Bε Arg191His astrocytes display a normal integrated stress response in vitro.Semantic proximity Read ↗

The Translational Landscape of Reactive Astrocytes Reveals the Impact of eIF2B-mediated Dysregulation in VWM DiseaseSemantic proximity Read ↗

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.Semantic proximity Read ↗

Paradoxical Sensitivity to an Integrated Stress Response Blocking Mutation in Vanishing White Matter Cells.Semantic proximity Read ↗

eIF2B localisation and its regulation during the integrated stress response is cell type specificSemantic proximity Read ↗

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