Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients
about
Astrocytes are central in the pathomechanisms of vanishing white matterDevelopmental splicing deregulation in leukodystrophies related to EIF2B mutationsDiscovery of chemical modulators of a conserved translational control pathway by parallel screening in yeast.Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patientsA point mutation in translation initiation factor eIF2B leads to function--and time-specific changes in brain gene expression.Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder.Regulation of the unfolded protein response by eif2Bdelta isoforms.Endoplasmic reticulum stress in disorders of myelinating cells.Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.Paradoxical Sensitivity to an Integrated Stress Response Blocking Mutation in Vanishing White Matter Cells.Different Eukaryotic Initiation Factor 2Bε Mutations Lead to Various Degrees of Intolerance to the Stress of Endoplasmic Reticulum in OligodendrocyteseIF2B and oligodendrocyte survival: where nature and nurture meet in bipolar disorder and schizophrenia?A point mutation in translation initiation factor 2B leads to a continuous hyper stress state in oligodendroglial-derived cells.New insights into translational regulation in the endoplasmic reticulum unfolded protein response.Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bɛ (eIF2Bɛ) identified in Chinese patients with vanishing white matter disease.The alpha subunit of eukaryotic initiation factor 2B (eIF2B) is required for eIF2-mediated translational suppression of vesicular stomatitis virus.Mutant eIF2B leads to impaired mitochondrial oxidative phosphorylation in vanishing white matter disease.Endoplasmic Reticulum Protein Quality Control Failure in Myelin Disorders.Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.Frataxin knockdown causes loss of cytoplasmic iron-sulfur cluster functions, redox alterations and induction of heme transcripts.Endoplasmic reticulum stress and eIF2α phosphorylation: The Achilles heel of pancreatic β cells.EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.Critical contacts between the eukaryotic initiation factor 2B (eIF2B) catalytic domain and both eIF2beta and -2gamma mediate guanine nucleotide exchange.Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.Mitochondrial malfunction in vanishing white matter disease: a disease of the cytosolic translation machinery.EIF2B2 mutations in Vanishing White Matter Disease hyper- suppress translation and delay recovery during the integrated stress response.Adult mouse eIF2Bε Arg191His astrocytes display a normal integrated stress response in vitro.The small molecule ISRIB rescues the stability and activity of Vanishing White Matter Disease eIF2B mutant complexes.Drug Screening Identifies Sigma-1-Receptor as a Target for the Therapy of VWM LeukodystrophyGenetic and Clinical Heterogeneity in eIF2B-Related DisorderUpdate on leukodystrophies
P2860
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P2860
Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients
description
2005 nî lūn-bûn
@nan
2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Heightened stress response in ...... CH/VWM leukodystrophy patients
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Heightened stress response in ...... CH/VWM leukodystrophy patients
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Heightened stress response in ...... CH/VWM leukodystrophy patients
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Heightened stress response in ...... CH/VWM leukodystrophy patients
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Heightened stress response in ...... CH/VWM leukodystrophy patients
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Heightened stress response in ...... CH/VWM leukodystrophy patients
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Heightened stress response in ...... CH/VWM leukodystrophy patients
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Heightened stress response in ...... CH/VWM leukodystrophy patients
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Heightened stress response in ...... CH/VWM leukodystrophy patients
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Heightened stress response in ...... CH/VWM leukodystrophy patients
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Heightened stress response in ...... CH/VWM leukodystrophy patients
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Heightened stress response in ...... CH/VWM leukodystrophy patients
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P2093
P50
P3181
P1433
P1476
Heightened stress response in ...... CH/VWM leukodystrophy patients
@en
P2093
Christine R Kaneski
Liraz Kantor
Raphael Schiffmann
Scot R Kimball
P2860
P2888
P304
P3181
P356
10.1007/S00439-005-0024-X
P407
P577
2005-10-01T00:00:00Z
P6179
1046523621