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

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) f...

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Main Authors: Horzinski, Laetitia, Kantor, Liraz, Huyghe, Aurélia, Schiffmann, Raphael, Elroy-Stein, Orna, Boespflug-Tanguy, Odile, Fogli, Anne
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2010
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2967530/
https://ncbi.nlm.nih.gov/pubmed/20958979
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2377-10-94
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