Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis. (Q31027652)

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English	Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis.	scientific article

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14 January 2020

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Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis (English)

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14 January 2020

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Orna Elroy-Stein

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14 January 2020

Raphael Schiffmann

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Raphael Schiffmann

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18 January 2006

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14 January 2020

Molecular Genetics and Metabolism

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14 January 2020

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14 January 2020

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14 January 2020

7-15

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14 January 2020

Pattern recognition in magnetic resonance imaging of white matter disorders in children and young adults.

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An update on the leukodsytrophies

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The latest on leukodystrophies

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Diagnosing "undiagnosed" leukodystrophies: The role of molecular genetics

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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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A new leukoencephalopathy with vanishing white matter

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Myelinopathia centralis diffusa (vanishing white matter disease): evidence of apoptotic oligodendrocyte degeneration in early lesion development

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Childhood ataxia with diffuse central nervous system hypomyelination

1 reference

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The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27

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

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

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Dominant form of vanishing white matter-like leukoencephalopathy

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The effect of genotype on the natural history of eIF2B-related leukodystrophies

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Proton magnetic resonance spectroscopic imaging in childhood ataxia with diffuse central nervous system hypomyelination

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Fright is a provoking factor in vanishing white matter disease

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Leukoencephalopathy With Vanishing White Matter: From Magnetic Resonance Imaging Pattern to Five Genes

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Phenotypic variation in leukoencephalopathy with vanishing white matter

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Screening for known mutations in EIF2Bgenes in a large panel of patients with premature ovarian failure

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Adult-onset Leukoencephalopathy with vanishing white matter presenting with dementia

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eIF2B-related disorders: antenatal onset and involvement of multiple organs

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

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7 January 2021

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7 January 2021

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Cree leukoencephalopathy: neuroimaging findings

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Leukoencephalopathy among native Indian infants in northern Quebec and Manitoba

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Leukodystrophy in patients with ovarian dysgenesis

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Ovarian failure related to eukaryotic initiation factor 2B mutations

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Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults

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Multiparametric MRI in a patient with adult-onset leukoencephalopathy with vanishing white matter

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Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease

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A new procedure for detecting brain-specific proteins in cerebrospinal fluid

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'Brain-type' N-glycosylation of asialo-transferrin from human cerebrospinal fluid

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Immunoblotting of transferrin in the identification of cerebrospinal fluid otorrhoea and rhinorrhoea

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Membrane phospholipids and high-energy metabolites in childhood ataxia with CNS hypomyelination.

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Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome

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The life and death of oligodendrocytes in vanishing white matter disease

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Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases

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

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Evidence for neuroaxonal injury in patients with proteolipid protein gene mutations

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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 ten novel mutations in patients with eIF2B-related disorders

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Eukaryotic initiation factor eIF2.

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Gene-specific regulation by general translation factors

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Gcn4p, a master regulator of gene expression, is controlled at multiple levels by diverse signals of starvation and stress

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Reinitiation involving upstream ORFs regulates ATF4 mRNA translation in mammalian cells

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Translation reinitiation at alternative open reading frames regulates gene expression in an integrated stress response

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Phosphorylation of the alpha-subunit of the eukaryotic initiation factor-2 (eIF2alpha) reduces protein synthesis and enhances apoptosis in response to proteasome inhibition

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Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways

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Mutations causing childhood ataxia with central nervous system hypomyelination reduce eukaryotic initiation factor 2B complex formation and activity

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based on heuristic

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10.1016/J.YMGME.2005.10.019

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16378743%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16378743%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

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