Leukoencephalopathy with vanishing white matter: a review.
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Astrocytes are central in the pathomechanisms of vanishing white matterA reliable computational workflow for the selection of optimal screening librarieseIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.Poor cerebral inflammatory response in eIF2B knock-in mice: implications for the aetiology of vanishing white matter diseaseInsights into the architecture of the eIF2Bα/β/δ regulatory subcomplexDefective glial maturation in vanishing white matter disease.A point mutation in translation initiation factor eIF2B leads to function--and time-specific changes in brain gene expression.Impaired eukaryotic translation initiation factor 2B activity specifically in oligodendrocytes reproduces the pathology of vanishing white matter disease in mice.Vanishing white matter disease in a spanish population.BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity.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.Transcriptional repression of ATF4 gene by CCAAT/enhancer-binding protein β (C/EBPβ) differentially regulates integrated stress response.Brain connexins in demyelinating diseases: therapeutic potential of glial targetsEukaryotic initiation factor 2 phosphorylation and translational control in metabolism.De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation.PERK activation preserves the viability and function of remyelinating oligodendrocytes in immune-mediated demyelinating diseasesExtensive use of RNA-binding proteins in Drosophila sensory neuron dendrite morphogenesisFamilial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases.Oligodendrocyte-microglia cross-talk in the central nervous system.ASTROCYTES: EMERGING STARS IN LEUKODYSTROPHY PATHOGENESIS.Differential diagnosis of white matter lesions: Nonvascular causes-Part II.Imaging of adult leukodystrophies.Endoplasmic reticulum quality control and dysmyelination.Mutant eIF2B leads to impaired mitochondrial oxidative phosphorylation in vanishing white matter disease.Molecular Determinants of the Regulation of Development and Metabolism by Neuronal eIF2α Phosphorylation in Caenorhabditis elegans.Crystal structure of eIF2B and insights into eIF2-eIF2B interactions.Endoplasmic Reticulum Protein Quality Control Failure in Myelin Disorders.Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.Case of Childhood Ataxia with Central Nervous System Hypomyelination with a Novel Mutation in EIF2B3 gene.Heterogeneous nuclear ribonucleoprotein (hnRNP) F is a novel component of oligodendroglial RNA transport granules contributing to regulation of myelin basic protein (MBP) synthesis.An autopsy case of infantile-onset vanishing white matter disease related to an EIF2B2 mutation (V85E) in a hemizygous region.Regulation of mRNA Translation in Neurons-A Matter of Life and Death.Novel mechanisms of eIF2B action and regulation by eIF2α phosphorylation.Bergmann glia translocation: a new disease marker for vanishing white matter identifies therapeutic effects of Guanabenz treatment.The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations.Vanishing white matter disease with mutations in EIF2B5 gene.Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
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P2860
Leukoencephalopathy with vanishing white matter: a review.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on October 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Leukoencephalopathy with vanishing white matter: a review.
@en
Leukoencephalopathy with vanishing white matter: a review.
@nl
type
label
Leukoencephalopathy with vanishing white matter: a review.
@en
Leukoencephalopathy with vanishing white matter: a review.
@nl
prefLabel
Leukoencephalopathy with vanishing white matter: a review.
@en
Leukoencephalopathy with vanishing white matter: a review.
@nl
P2093
P1476
Leukoencephalopathy with vanishing white matter: a review.
@en
P2093
Gert C Scheper
James M Powers
Marianna Bugiani
Marjo S van der Knaap
P304
P356
10.1097/NEN.0B013E3181F2EAFA
P577
2010-10-01T00:00:00Z