Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients - Horzinski, Laetitia; Kantor, Liraz; Huyghe, Aurélia; Schiffmann, Raphael; Elroy-Stein, Orna; Boespflug-Tanguy, Odile; Fogli, Anne (BMC neurology, 2010)
Keywords: 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