Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter
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EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophyThe life and death of oligodendrocytes in vanishing white matter diseaseeIF2B-related disorders: antenatal onset and involvement of multiple organsDecreased guanine nucleotide exchange factor activity in eIF2B-mutated patientsMutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse waysIdentification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.Ovarian failure related to eukaryotic initiation factor 2B mutations.Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathyA molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.Mutations causing childhood ataxia with central nervous system hypomyelination reduce eukaryotic initiation factor 2B complex formation and activityDiagnosis of inflammatory demyelination in biopsy specimens: a practical approachEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseAstrocytes are central in the pathomechanisms of vanishing white matterStructure of the catalytic fragment of translation initiation factor 2B and identification of a critically important catalytic residueeIF2B is a decameric guanine nucleotide exchange factor with a γ2ε2 tetrameric core.Characterization of the minimal catalytic domain within eIF2B: the guanine-nucleotide exchange factor for translation initiationeIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone FracturesCree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locusLeukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genesPoor cerebral inflammatory response in eIF2B knock-in mice: implications for the aetiology of vanishing white matter diseaseEukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disordersHomozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disabilityCerebral white matter: neuroanatomy, clinical neurology, and neurobehavioral correlatesVanishing white matter disease: the first reported chinese patient.Ribosomal protein gene knockdown causes developmental defects in zebrafish.Megalencephalic leukoencephalopathy with subcortical cysts: a third confirmed case with literature review.Discovery of chemical modulators of a conserved translational control pathway by parallel screening in yeast.Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patientsPrioritizing candidate disease genes by network-based boosting of genome-wide association data.A selective sweep of >8 Mb on chromosome 26 in the Boxer genome.Defective glial maturation in vanishing white matter disease.Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder.The emerging role of guanine nucleotide exchange factors in ALS and other neurodegenerative diseases.Regulation of the unfolded protein response by eif2Bdelta isoforms.CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutationsFifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter diseaseProteomics-level analysis of myelin formation and regeneration in a mouse model for Vanishing White Matter disease.Dynamic cycling of eIF2 through a large eIF2B-containing cytoplasmic body: implications for translation control
P2860
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P2860
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter
description
2002 nî lūn-bûn
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2002 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Mutations in each of the five ...... hy with vanishing white matter
@ast
Mutations in each of the five ...... hy with vanishing white matter
@en
Mutations in each of the five ...... hy with vanishing white matter
@nl
type
label
Mutations in each of the five ...... hy with vanishing white matter
@ast
Mutations in each of the five ...... hy with vanishing white matter
@en
Mutations in each of the five ...... hy with vanishing white matter
@nl
prefLabel
Mutations in each of the five ...... hy with vanishing white matter
@ast
Mutations in each of the five ...... hy with vanishing white matter
@en
Mutations in each of the five ...... hy with vanishing white matter
@nl
P2093
P356
P1433
P1476
Mutations in each of the five ...... hy with vanishing white matter
@en
P2093
Allerdien Visser
Andrea A M Könst
Cees B M Oudejans
Jan C Pronk
Marjo S van der Knaap
Peter A J Leegwater
Ruud B H Schutgens
Sakkubai Naidu
P304
P356
10.1002/ANA.10112
P407
P577
2002-02-01T00:00:00Z