review article | Q7318358 |
scholarly article | Q13442814 |
P356 | DOI | 10.1042/BST0340022 |
P698 | PubMed publication ID | 16246171 |
P2093 | author name string | Boespflug-Tanguy O | |
Fogli A | |||
P433 | issue | Pt 1 | |
P304 | page(s) | 22-29 | |
P577 | publication date | 2006-02-01 | |
P1433 | published in | Biochemical Society Transactions | Q864226 |
P1476 | title | The large spectrum of eIF2B-related diseases | |
P478 | volume | 34 |
Q36465629 | A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly |
Q34071458 | A point mutation in translation initiation factor eIF2B leads to function--and time-specific changes in brain gene expression |
Q28485114 | A yeast purification system for human translation initiation factors eIF2 and eIF2Bε and their use in the diagnosis of CACH/VWM disease |
Q37586538 | Absence of system xc- on immune cells invading the central nervous system alleviates experimental autoimmune encephalitis |
Q34133006 | Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation |
Q92786825 | Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia |
Q42048869 | An inhibitor of eIF2 activity in the sRNA pool of eukaryotic cells |
Q38934354 | Architecture of the eIF2B regulatory subcomplex and its implications for the regulation of guanine nucleotide exchange on eIF2. |
Q48911592 | Atypical presentation of vanishing white matter disease |
Q37455379 | CHOP and the endoplasmic reticulum stress response in myelinating glia |
Q34404795 | CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutations |
Q50767960 | Childhood Ataxia with Cerebral Hypomyelination Syndrome: a Variant of Patient with Early Childhood Onset Related to EIF2B3 Mutation. A Case Report. |
Q42412345 | Critical contacts between the eukaryotic initiation factor 2B (eIF2B) catalytic domain and both eIF2beta and -2gamma mediate guanine nucleotide exchange. |
Q27704065 | Crystal structure of eukaryotic translation initiation factor 2B |
Q36922857 | Crystal structure of the C-terminal domain of the ɛ subunit of human translation initiation factor eIF2B. |
Q28728163 | Developmental splicing deregulation in leukodystrophies related to EIF2B mutations |
Q50614599 | Diagnostic algorithm for the differentiation of leukodystrophies in early MS. |
Q36523093 | Different Eukaryotic Initiation Factor 2Bε Mutations Lead to Various Degrees of Intolerance to the Stress of Endoplasmic Reticulum in Oligodendrocytes |
Q33498089 | Discovery of chemical modulators of a conserved translational control pathway by parallel screening in yeast |
Q57073756 | Drug Screening Identifies Sigma-1-Receptor as a Target for the Therapy of VWM Leukodystrophy |
Q46689920 | Early reduction of total N-acetyl-aspartate-compounds in patients with classical vanishing white matter disease. A long-term follow-up MRS study |
Q36557541 | Eukaryotic initiation factor 2B and its role in alterations in mRNA translation that occur under a number of pathophysiological and physiological conditions |
Q33722753 | Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients |
Q35168282 | Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up |
Q38337419 | Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bɛ (eIF2Bɛ) identified in Chinese patients with vanishing white matter disease |
Q36723394 | GSK3β regulates AKT-induced central nervous system axon regeneration via an eIF2Bε-dependent, mTORC1-independent pathway. |
Q31158574 | Genes involved in leukodystrophies: a glance at glial functions. |
Q57814452 | Genetic and Clinical Heterogeneity in eIF2B-Related Disorder |
Q51535832 | Genotype–phenotype correlation in vanishing white matter disease |
Q83214853 | Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease |
Q57640098 | Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice |
Q33638923 | Inherited determinants of ovarian cancer survival |
Q33710467 | Insights into the architecture of the eIF2Bα/β/δ regulatory subcomplex |
Q89563243 | LEUKOENCEPHALOPATHY WITH EVANESCENT WHITE MATTER: A CASE REPORT |
Q29395926 | Le syndrome CACH/VWM et les leucodystrophies liées à des mutations EIF2B |
Q58485746 | Letter to the Editor: No evidence for association between the EIF2B5 gene and multiple sclerosis in French families |
Q50777869 | Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy. |
Q37788513 | Leukoencephalopathy With Vanishing White Matter: A Review |
Q41919223 | Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus. |
Q27485485 | Multidisciplinary Prospective Study of Mother-to-Child Chikungunya Virus Infections on the Island of La Réunion |
Q38901362 | Mutant eIF2B leads to impaired mitochondrial oxidative phosphorylation in vanishing white matter disease |
Q45922760 | Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases. |
Q34654324 | New insights into the genetic basis of infertility |
Q47112435 | Novel mechanisms of eIF2B action and regulation by eIF2α phosphorylation. |
Q36182431 | Paradoxical Sensitivity to an Integrated Stress Response Blocking Mutation in Vanishing White Matter Cells. |
Q35590995 | Pharmacological dimerization and activation of the exchange factor eIF2B antagonizes the integrated stress response |
Q28389410 | Poor cerebral inflammatory response in eIF2B knock-in mice: implications for the aetiology of vanishing white matter disease |
Q35843362 | Proteomics-level analysis of myelin formation and regeneration in a mouse model for Vanishing White Matter disease. |
Q36965192 | Purification of FLAG-tagged eukaryotic initiation factor 2B complexes, subcomplexes, and fragments from Saccharomyces cerevisiae |
Q58590219 | Quantifying the contribution of recessive coding variation to developmental disorders |
Q34488569 | Quantitative proteomic analysis identifies targets and pathways of a 2-aminobenzamide HDAC inhibitor in Friedreich's ataxia patient iPSC-derived neural stem cells. |
Q53179669 | Role of Saccharomyces cerevisiae TAN1 (tRNA acetyltransferase) in eukaryotic initiation factor 2B (eIF2B)-mediated translation control and stress response. |
Q34103337 | Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder |
Q45945811 | Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes. |
Q34159126 | The emerging role of guanine nucleotide exchange factors in ALS and other neurodegenerative diseases. |
Q37726434 | The molecular basis of translational control |
Q34152320 | Vanishing white matter disease associated with ptosis and myoclonic seizures |
Q46039775 | Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course. |
Q24339012 | XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription |
Q90570845 | eIF2B and the Integrated Stress Response: A Structural and Mechanistic View |
Search more.