Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients (Q24309616)

response to endoplasmic reticulum stress

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Orna Elroy-Stein

7

0 references

Heather P Harding

object named as

Heather P Harding

2

0 references

David Ron

object named as

David Ron

3

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Raphael Schiffmann

4

object named as

Raphael Schiffmann

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author name string

Liraz Kantor

1

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Christine R Kaneski

5

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Scot R Kimball

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

6

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language of work or name

English

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publication date

October 2005

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published in

Human Genetics

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volume

118

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issue

1

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page(s)

99-106

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cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007/S00439-005-0024-X

Orchestrating the unfolded protein response in health and disease

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007/S00439-005-0024-X

Eukaryotic initiation factor 2B: identification of multiple phosphorylation sites in the epsilon-subunit and their functions in vivo

21 January 2018

1 reference

12 December 2020

Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients

1 reference

12 December 2020

Molecular pathways of protein synthesis inhibition during brain reperfusion: implications for neuronal survival or death

1 reference

12 December 2020

C/ATF, a member of the activating transcription factor family of DNA-binding proteins, dimerizes with CAAT/enhancer-binding proteins and directs their binding to cAMP response elements

1 reference

12 December 2020

Phosphorylation of eukaryotic initiation factor 2 during physiological stresses which affect protein synthesis

1 reference

12 December 2020

Regulation of Translational Initiation during Cellular Responses to Stress

1 reference

12 December 2020

Ovarian failure related to eukaryotic initiation factor 2B mutations

1 reference

12 December 2020

Gene-specific regulation by general translation factors

1 reference

12 December 2020

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

1 reference

12 December 2020

Defective translational control facilitates vesicular stomatitis virus oncolysis

1 reference

12 December 2020

Biology of oligodendrocyte and myelin in the mammalian central nervous system

1 reference

12 December 2020

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

1 reference

12 December 2020

Reinitiation involving upstream ORFs regulates ATF4 mRNA translation in mammalian cells

1 reference

12 December 2020

Regulation of protein synthesis by hypoxia via activation of the endoplasmic reticulum kinase PERK and phosphorylation of the translation initiation factor eIF2alpha

1 reference

12 December 2020

Myelin biogenesis: vesicle transport in oligodendrocytes

1 reference

12 December 2020

Ischemia-induced inhibition of the initiation factor 2alpha phosphatase activity in the rat brain

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

IRE1 couples endoplasmic reticulum load to secretory capacity by processing the XBP-1 mRNA

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Initiation factor eIF2 alpha phosphorylation in stress responses and apoptosis.

1 reference

12 December 2020

Childhood ataxia with diffuse central nervous system hypomyelination

1 reference

12 December 2020

Leukodystrophy in patients with ovarian dysgenesis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Deletion mapping of DNA regions required for SV40 early region promoter function in vivo

1 reference

12 December 2020

1 reference

12 December 2020

Stress signaling from the lumen of the endoplasmic reticulum: coordination of gene transcriptional and translational controls

1 reference

12 December 2020

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

1 reference

12 December 2020

Endoplasmic reticulum: a primary target in various acute disorders and degenerative diseases of the brain

1 reference

12 December 2020

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

1 reference

12 December 2020

Purification and characterization of eukaryotic initiation factor 2 and a guanine nucleotide exchange factor from rat liver

1 reference

12 December 2020

Transcriptional and translational control in the Mammalian unfolded protein response

1 reference

12 December 2020

Initiation of protein synthesis in a cell-free system prepared from rat hepatocytes.

1 reference

12 December 2020

Possible mechanisms involved in the down-regulation of translation during transient global ischaemia in the rat brain

1 reference

12 December 2020

10.1007/S00439-005-0024-X

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2684044

Dimensions Publication ID

1046523621

0 references

OpenCitations bibliographic resource ID

2684044

1 reference