about
XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcriptionMultidisciplinary Prospective Study of Mother-to-Child Chikungunya Virus Infections on the Island of La RéunionCrystal structure of eukaryotic translation initiation factor 2BPoor cerebral inflammatory response in eIF2B knock-in mice: implications for the aetiology of vanishing white matter diseaseA yeast purification system for human translation initiation factors eIF2 and eIF2Bε and their use in the diagnosis of CACH/VWM diseaseDevelopmental splicing deregulation in leukodystrophies related to EIF2B mutationsDiscovery of chemical modulators of a conserved translational control pathway by parallel screening in yeast.Inherited determinants of ovarian cancer survival.Insights into the architecture of the eIF2Bα/β/δ regulatory subcomplexEvaluation 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.Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.Vanishing white matter disease associated with ptosis and myoclonic seizures.The emerging role of guanine nucleotide exchange factors in ALS and other neurodegenerative diseases.CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutationsQuantitative proteomic analysis identifies targets and pathways of a 2-aminobenzamide HDAC inhibitor in Friedreich's ataxia patient iPSC-derived neural stem cells.New insights into the genetic basis of infertilityFifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.Pharmacological dimerization and activation of the exchange factor eIF2B antagonizes the integrated stress response.Proteomics-level analysis of myelin formation and regeneration in a mouse model for Vanishing White Matter disease.Paradoxical Sensitivity to an Integrated Stress Response Blocking Mutation in Vanishing White Matter Cells.A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and MicrocephalyDifferent Eukaryotic Initiation Factor 2Bε Mutations Lead to Various Degrees of Intolerance to the Stress of Endoplasmic Reticulum in OligodendrocytesGSK3β regulates AKT-induced central nervous system axon regeneration via an eIF2Bε-dependent, mTORC1-independent pathway.Crystal structure of the C-terminal domain of the ɛ subunit of human translation initiation factor eIF2B.CHOP and the endoplasmic reticulum stress response in myelinating gliaAbsence of system xc- on immune cells invading the central nervous system alleviates experimental autoimmune encephalitis.Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bɛ (eIF2Bɛ) identified in Chinese patients with vanishing white matter disease.Mutant eIF2B leads to impaired mitochondrial oxidative phosphorylation in vanishing white matter disease.Architecture of the eIF2B regulatory subcomplex and its implications for the regulation of guanine nucleotide exchange on eIF2.An inhibitor of eIF2 activity in the sRNA pool of eukaryotic cells.Critical contacts between the eukaryotic initiation factor 2B (eIF2B) catalytic domain and both eIF2beta and -2gamma mediate guanine nucleotide exchange.Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.Early reduction of total N-acetyl-aspartate-compounds in patients with classical vanishing white matter disease. A long-term follow-up MRS study.Novel mechanisms of eIF2B action and regulation by eIF2α phosphorylation.Atypical presentation of vanishing white matter disease.Childhood Ataxia with Cerebral Hypomyelination Syndrome: a Variant of Patient with Early Childhood Onset Related to EIF2B3 Mutation. A Case Report.
P2860
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P2860
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh
2006年學術文章
@zh-hant
name
The large spectrum of eIF2B-related diseases.
@ast
The large spectrum of eIF2B-related diseases.
@en
type
label
The large spectrum of eIF2B-related diseases.
@ast
The large spectrum of eIF2B-related diseases.
@en
prefLabel
The large spectrum of eIF2B-related diseases.
@ast
The large spectrum of eIF2B-related diseases.
@en
P356
P1476
The large spectrum of eIF2B-related diseases.
@en
P2093
Boespflug-Tanguy O
P356
10.1042/BST0340022
P577
2006-02-01T00:00:00Z