Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients (Q33722753)

28 July 2017

title

Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients (English)

1 reference

28 July 2017

main subject

endoplasmic reticulum

0 references

Anne Fogli

7

1 reference

ORCID Public Data File 2021

author name string

Laetitia Horzinski

1

1 reference

28 July 2017

Liraz Kantor

2

1 reference

28 July 2017

Aurélia Huyghe

3

1 reference

28 July 2017

Raphael Schiffmann

4

1 reference

28 July 2017

Orna Elroy-Stein

5

1 reference

28 July 2017

Odile Boespflug-Tanguy

6

1 reference

28 July 2017

publication date

19 October 2010

1 reference

28 July 2017

1 reference

28 July 2017

volume

10

1 reference

28 July 2017

page(s)

94

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2377-10-94

28 July 2017

exact match

0 references

cites work

Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders

1 reference

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Protein synthesis and its control in neuronal cells with a focus on vanishing white matter disease

21 June 2018

1 reference

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A point mutation in translation initiation factor 2B leads to a continuous hyper stress state in oligodendroglial-derived cells

21 June 2018

1 reference

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Epstein-Barr virus nuclear antigen (EBNA) 3A induces the expression of and interacts with a subset of chaperones and co-chaperones.

21 June 2018

1 reference

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Ribosomal slowdown mediates translational arrest during cellular division.

21 June 2018

1 reference

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The large spectrum of eIF2B-related diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967530

Regulation of protein synthesis in lymphoblasts from vanishing white matter patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967530

Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967530

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

21 June 2018

1 reference

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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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967530

Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967530

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

21 June 2018

1 reference

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Defective translational control facilitates vesicular stomatitis virus oncolysis

21 June 2018

1 reference

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Ovarian failure related to eukaryotic initiation factor 2B mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967530

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967530

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967530

The chaperone function of hsp70 is required for protection against stress-induced apoptosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967530

eIF2 independently binds two distinct eIF2B subcomplexes that catalyze and regulate guanine-nucleotide exchange.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2967530

Childhood ataxia with diffuse central nervous system hypomyelination

21 June 2018

1 reference

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A new leukoencephalopathy with vanishing white matter.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-94

The unfolded protein response in vanishing white matter disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-94

Glia-specific activation of all pathways of the unfolded protein response in vanishing white matter disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-10-94

A routine method for the establishment of permanent growing lymphoblastoid cell lines

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20958979

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2377-10-94

1 reference

Dimensions Publication ID

28 July 2017

0 references

1 reference

28 July 2017

1 reference