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Article

Developmental splicing deregulation in leukodystrophies related to EIF2B mutations.

PloS one - 1 Jan 2012

Huyghe Aurélia, Horzinski Laetitia, Hénaut Alain, Gaillard Marina, Bertini Enrico, Schiffmann Raphael, Rodriguez Diana, Dantal Yann, Boespflug-Tanguy Odile, Fogli Anne

Abstract excerpt

Leukodystrophies (LD) are rare inherited disorders that primarily affect the white matter (WM) of the central nervous system. The large heterogeneity of LD results from the diversity of the genetically determined defects that interfere with glial cells functions. Astrocytes have been identified as the primary target of LD with cystic myelin breakdown including those related to mutations in the ubiquitous...

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Source

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Identifiers

PMID: 22737209
DOI: 10.1371/journal.pone.0038264
PMCID: PMC3380860

Genes

GFAP
HNRNPH1
PLP1

Provenance

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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