Associated Papers
A (dis)integrated stress response: Genetic diseases of eIF2α regulators.
English AM et al.
Wiley Interdisciplinary Reviews. Rna, 2022
Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations.
Slynko I et al.
Molecular Genetics & Genomic Medicine, 2021
33432707 (PubMed )
Supplement: MGG3-9-e1593-s001.pdf
Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination.
Trimouille A et al.
Acta Neuropathologica Communications, 2020
A yeast purification system for human translation initiation factors eIF2 and eIF2Bε and their use in the diagnosis of CACH/VWM disease.
de Almeida RA et al.
Plos One, 2013
Identification of residues that underpin interactions within the eukaryotic initiation factor (eIF2) 2B complex.
Wang X et al.
The Journal of Biological Chemistry, 2012
Developmental splicing deregulation in leukodystrophies related to EIF2B mutations.
Huyghe A et al.
Plos One, 2012
Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients.
Horzinski L et al.
Bmc Neurology, 2010
Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders.
Horzinski L et al.
Plos One, 2009
The large spectrum of eIF2B-related diseases.
Fogli A et al.
Biochemical Society Transactions, 2006
Vanishing white matter disease: a review with focus on its genetics.
Pronk JC et al.
Mental Retardation and Developmental Disabilities Research Reviews, 2006
Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients.
Fogli A et al.
European Journal of Human Genetics : Ejhg, 2004
The effect of genotype on the natural history of eIF2B-related leukodystrophies.
Fogli A et al.
Neurology, 2004
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