(Q31027652)

English

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

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

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

14 January 2020

1 reference

Europe PubMed Central

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

1 reference

Europe PubMed Central

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

14 January 2020

0 references

Orna Elroy-Stein

2

1 reference

Europe PubMed Central

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

14 January 2020

author name string

Raphael Schiffmann

1

1 reference

Europe PubMed Central

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

14 January 2020

publication date

18 January 2006

1 reference

Europe PubMed Central

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

14 January 2020

Molecular Genetics and Metabolism

1 reference

Europe PubMed Central

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

14 January 2020

88

1 reference

Europe PubMed Central

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

14 January 2020

7-15

1 reference

Europe PubMed Central

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

14 January 2020

1

1 reference

Europe PubMed Central

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

14 January 2020

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

An update on the leukodsytrophies

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

The latest on leukodystrophies

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Diagnosing "undiagnosed" leukodystrophies: The role of molecular genetics.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

A new leukoencephalopathy with vanishing white matter.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Childhood ataxia with diffuse central nervous system hypomyelination.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Dominant form of vanishing white matter-like leukoencephalopathy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Fright is a provoking factor in vanishing white matter disease.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Phenotypic variation in leukoencephalopathy with vanishing white matter

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Adult-onset Leukoencephalopathy with vanishing white matter presenting with dementia.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

2 references

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

based on heuristic

inferred from DOI database lookup

Cree leukoencephalopathy: neuroimaging findings

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Leukoencephalopathy among native Indian infants in northern Quebec and Manitoba

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Leukodystrophy in patients with ovarian dysgenesis.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Ovarian failure related to eukaryotic initiation factor 2B mutations

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

The life and death of oligodendrocytes in vanishing white matter disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Evidence for neuroaxonal injury in patients with proteolipid protein gene mutations

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Identification of ten novel mutations in patients with eIF2B-related disorders

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Eukaryotic initiation factor eIF2.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Gene-specific regulation by general translation factors

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Reinitiation involving upstream ORFs regulates ATF4 mRNA translation in mammalian cells

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Translational control in virus-infected cells: models for cellular stress responses

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Transcriptional and translational control in the Mammalian unfolded protein response

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Cellular internal ribosome entry segments: structures, trans-acting factors and regulation of gene expression

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Continuous heat shock enhances translational initiation directed by internal ribosomal entry site

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Phosphorylation of initiation factor-2 alpha is required for activation of internal translation initiation during cell differentiation.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Internal ribosome initiation of translation and the control of cell death.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Mechanisms of damage to myelin and oligodendrocytes and their relevance to disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Developmental lag in superoxide dismutases relative to other antioxidant enzymes in premyelinated human telencephalic white matter

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Biology of oligodendrocyte and myelin in the mammalian central nervous system

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Myelin biogenesis: vesicle transport in oligodendrocytes

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Vesicle transport in oligodendrocytes: probable role of Rab40c protein

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Protein translation and folding are coupled by an endoplasmic-reticulum-resident kinase

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Regulated translation initiation controls stress-induced gene expression in mammalian cells

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Roles of CHOP/GADD153 in endoplasmic reticulum stress

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Delineation of a negative feedback regulatory loop that controls protein translation during endoplasmic reticulum stress

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

A selective inhibitor of eIF2alpha dephosphorylation protects cells from ER stress

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

The unfolded protein response in vanishing white matter disease.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

HMG CoA reductase: a negatively regulated gene with unusual promoter and 5' untranslated regions

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

The simian virus 40 large T antigen does not inhibit translation of the 14-kDa myelin basic protein mRNA in reticulocyte lysates or in transfected cells.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Parameters related to lipid metabolism as markers of myelination in mouse brain

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Alterations in metabolism and gene expression in brain regions during cuprizone-induced demyelination and remyelination

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

24S-hydroxycholesterol induces inflammatory gene expression in primary human neural cells

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Fibroblast growth factor 2 internal ribosome entry site (IRES) activity ex vivo and in transgenic mice reveals a stringent tissue-specific regulation

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

MS screening strategies: investigating the glycomes of knockout and myodystrophic mice and leukodystrophic human brains.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.019

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/J.YMGME.2005.10.019

1 reference

Europe PubMed Central

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

14 January 2020

1 reference

Europe PubMed Central

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

14 January 2020

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q31027652&oldid=1642523339"