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

• Published in: BMC neurology Vol. 10; no. 1; p. 94
• Main Authors: Horzinski, Laetitia, Kantor, Liraz, Huyghe, Aurélia, Schiffmann, Raphael, Elroy-Stein, Orna, Boespflug-Tanguy, Odile, Fogli, Anne
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 19.10.2010; BioMed Central; BMC
• Subjects: Activating Transcription Factor 4; Activating Transcription Factor 4 - genetics; Activating Transcription Factor 4 - metabolism; Adolescent; Ataxia; Blotting, Western; Cell Line; Cellular signal transduction; Child; Child, Preschool; Development and progression; Endoplasmic Reticulum; Endoplasmic Reticulum - drug effects; Endoplasmic Reticulum - genetics; Endoplasmic Reticulum - metabolism; Enzyme Inhibitors; Enzyme Inhibitors - toxicity; Epstein-Barr virus; Eukaryotic Initiation Factor-2B; Eukaryotic Initiation Factor-2B - genetics; Eukaryotic Initiation Factor-2B - metabolism; Female; Human subjects; Humans; Infant; Leukoencephalopathies; Leukoencephalopathies - genetics; Leukoencephalopathies - metabolism; Life Sciences; Lymphocytes; Lymphocytes - metabolism; Male; Metabolic disorders; Mutation; Neurons and Cognition; Phosphorylation; Physiological aspects; Protein Biosynthesis; Protein Biosynthesis - drug effects; Protein Biosynthesis - physiology; Protein synthesis; Reverse Transcriptase Polymerase Chain Reaction; Stress response; Stress, Physiological; Stress, Physiological - physiology; Thapsigargin; Thapsigargin - toxicity; Yeast

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-mu...