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Article

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

BMC neurology - 19 Oct 2010

Horzinski Laetitia, Kantor Liraz, Huyghe Aurélia, Schiffmann Raphael, Elroy-Stein Orna, Boespflug-Tanguy Odile, Fogli Anne

Abstract excerpt

BACKGROUND: Eukaryotic translation initiation factor 2B (eIF2B), a guanine nucleotide exchange factor (GEF) and a key regulator of translation initiation under normal and stress conditions, causes an autosomal recessive leukodystrophy of a wide clinical spectrum. EBV-immortalised lymphocytes (EIL) from eIF2B-mutated patients exhibit a decrease in eIF2B GEF activity. eIF2B-mutated primary fibroblasts have a...

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Identifiers

PMID: 20958979
DOI: 10.1186/1471-2377-10-94
PMCID: PMC2967530

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ATF4
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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients.PMID 20958979Read ↗

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