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Article

EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy.

Nature medicine - 1 Mar 2005

Dietrich Jörg, Lacagnina Michelle, Gass David, Richfield Eric, Mayer-Pröschel Margot, Noble Mark, Torres Carlos, Pröschel Christoph

Abstract excerpt

Vanishing white matter disease (VWM) is a heritable leukodystrophy linked to mutations in translation initiation factor 2B (eIF2B). Although the clinical course of this disease has been relatively well described, the cellular consequences of EIF2B mutations on neural cells are unknown. Here we have established cell cultures from the brain of an individual with VWM carrying mutations in subunit 5 of eIF2B (encoded...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15723074
DOI: 10.1038/nm1195

Genes

GFAP
EIF2B5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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