EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy (Q24295527)

astrocyte differentiation

GOA release 2020-03-11

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GOA release 2020-03-11

author name string

Jörg Dietrich

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Michelle Lacagnina

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David Gass

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Eric Richfield

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Margot Mayer-Pröschel

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Mark Noble

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Carlos Torres

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Christoph Pröschel

A new leukoencephalopathy with vanishing white matter

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language of work or name

English

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publication date

March 2005

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277-83

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cites work

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Childhood ataxia with diffuse central nervous system hypomyelination

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Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus

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A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation

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Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter

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Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

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Identification of domains and residues within the epsilon subunit of eukaryotic translation initiation factor 2B (eIF2Bepsilon) required for guanine nucleotide exchange reveals a novel activation function promoted by eIF2B complex formation

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Identification of domains within the epsilon-subunit of the translation initiation factor eIF2B that are necessary for guanine nucleotide exchange activity and eIF2B holoprotein formation

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Conserved bipartite motifs in yeast eIF5 and eIF2Bepsilon, GTPase-activating and GDP-GTP exchange factors in translation initiation, mediate binding to their common substrate eIF2.

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Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients

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The life and death of oligodendrocytes in vanishing white matter disease

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Targeted deletion in astrocyte intermediate filament (Gfap) alters neuronal physiology

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GFAP is necessary for the integrity of CNS white matter architecture and long-term maintenance of myelination

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Mice lacking GFAP are hypersensitive to traumatic cerebrospinal injury

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High susceptibility to cerebral ischemia in GFAP-null mice

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Glial fibrillary acidic protein is necessary for mature astrocytes to react to beta-amyloid

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Molecular findings in symptomatic and pre-symptomatic Alexander disease patients

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Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation

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New roles for astrocytes: redefining the functional architecture of the brain

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Fetal and adult human oligodendrocyte progenitor cell isolates myelinate the congenitally dysmyelinated brain

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Embryonic-derived glial-restricted precursor cells (GRP cells) can differentiate into astrocytes and oligodendrocytes in vivo

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A tripotential glial precursor cell is present in the developing spinal cord

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A variant of yellow fluorescent protein with fast and efficient maturation for cell-biological applications

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Characterization of the minimal catalytic domain within eIF2B: the guanine-nucleotide exchange factor for translation initiation

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Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27

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Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy

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7 January 2021

Two types of astrocytes in cultures of developing rat white matter: differences in morphology, surface gangliosides, and growth characteristics

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Phenotypic variation in leukoencephalopathy with vanishing white matter

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7 January 2021

Mice devoid of the glial fibrillary acidic protein develop normally and are susceptible to scrapie prions

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The impact of genetic removal of GFAP and/or vimentin on glutamine levels and transport of glucose and ascorbate in astrocytes

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Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

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Isolation of Lineage-Restricted Neuronal Precursors from Multipotent Neuroepithelial Stem Cells

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Glial-Restricted Precursors Are Derived from Multipotent Neuroepithelial Stem Cells

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The tripotential glial-restricted precursor (GRP) cell and glial development in the spinal cord: generation of bipotential oligodendrocyte-type-2 astrocyte progenitor cells and dorsal-ventral differences in GRP cell function.

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Identifiers

DOI

10.1038/NM1195

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4210102

Dimensions Publication ID

1033439209

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OpenCitations bibliographic resource ID

4210102

1 reference