Associated Papers
Chronic integrated stress response causes dysregulated cholesterol synthesis in white matter disease.
Lin K et al.
Jci Insight, 2025
The role of eIF2 phosphorylation in cell and organismal physiology: new roles for well-known actors.
Wang X et al.
The Biochemical Journal, 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
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease.
Wortham NC et al.
Bmc Medical Genetics, 2015
Genetic and clinical heterogeneity in eIF2B-related disorder.
Maletkovic J et al.
Journal of Child Neurology, 2008
The spectrum of mutations for the diagnosis of vanishing white matter disease.
Scali O et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2006
The large spectrum of eIF2B-related diseases.
Fogli A et al.
Biochemical Society Transactions, 2006
Mutations causing childhood ataxia with central nervous system hypomyelination reduce eukaryotic initiation factor 2B complex formation and activity.
Richardson JP et al.
Molecular and Cellular Biology, 2004
Translation factors: in sickness and in health.
Abbott CM et al.
Trends in Biochemical Sciences, 2004
Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.
Leegwater PA et al.
Journal of Child Neurology, 2003
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.
van der Knaap MS et al.
Annals of Neurology, 2002
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