Associated Papers
Endogenous Repair in Vanishing White Matter.
Plug BC et al.
Annals of Neurology, 2025
Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies.
Serrano PL et al.
Current Issues in Molecular Biology, 2024
Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA.
Bugiani M et al.
Annals of Clinical and Translational Neurology, 2023
A novel missense variant in EIF2B5 identified in a consanguineous Iranian family with vanishing white matter disease and a brief review of the literature.
Nourmohammadi P et al.
Journal of Genetics, 2023
A (dis)integrated stress response: Genetic diseases of eIF2α regulators.
English AM et al.
Wiley Interdisciplinary Reviews. Rna, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations.
Slynko I et al.
Molecular Genetics & Genomic Medicine, 2021
Correlation Between Genotype and Age of Onset in Leukoencephalopathy With Vanishing White Matter.
Deng J et al.
Frontiers in Genetics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
Glial pathology in a novel spontaneous mutant mouse of the Eif2b5 gene: a vanishing white matter disease model.
Terumitsu-Tsujita M et al.
Journal of Neurochemistry, 2020
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
Vanishing white matter: deregulated integrated stress response as therapy target.
Abbink TEM et al.
Annals of Clinical and Translational Neurology, 2019
Vanishing white matter: a leukodystrophy due to astrocytic dysfunction.
Bugiani M et al.
Brain Pathology (zurich, Switzerland), 2018
Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter.
Leferink PS et al.
Glia, 2018
Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.
Zhang H et al.
Plos One, 2015
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
Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.
Liu R et al.
Human Mutation, 2011
Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bɛ (eIF2Bɛ) identified in Chinese patients with vanishing white matter disease.
Leng X et al.
Journal of Human Genetics, 2011
Genotype-phenotype correlation in vanishing white matter disease.
van der Lei HD et al.
Neurology, 2010
Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients.
Horzinski L et al.
Bmc Neurology, 2010
Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy.
Jansen AC et al.
Epilepsia, 2008
Genetic and clinical heterogeneity in eIF2B-related disorder.
Maletkovic J et al.
Journal of Child Neurology, 2008
[Clinical characteristics of cases with leukoencephalopathy with vanishing white matter].
Wu Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2007
Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis.
Schiffmann R et al.
Molecular Genetics and Metabolism, 2006
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
EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy.
Dietrich J et al.
Nature Medicine, 2005
The effect of genotype on the natural history of eIF2B-related leukodystrophies.
Fogli A et al.
Neurology, 2004
Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults.
van der Knaap MS et al.
Neurology, 2004
Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways.
Li W 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
[Clinical observation and long-term follow-up of benign infantile epilepsy].
Liu XY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2003
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
Leegwater PA et al.
Nature Genetics, 2001
[Association between homozygous c.318A>GT mutation in exon 2 of the EIF2B5 gene and the infantile form of vanishing white matter leukoencephalopathy].
Esmer C et al.
Boletin Medico Del Hospital Infantil De Mexico, 0