The large spectrum of eIF2B-related diseases

scientific article

The large spectrum of eIF2B-related diseases is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

External links are
P356DOI10.1042/BST0340022
P698PubMed publication ID16246171

P2093author name stringBoespflug-Tanguy O
Fogli A
P433issuePt 1
P304page(s)22-29
P577publication date2006-02-01
P1433published inBiochemical Society TransactionsQ864226
P1476titleThe large spectrum of eIF2B-related diseases
P478volume34

Reverse relations

cites work (P2860)
Q36465629A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly
Q34071458A point mutation in translation initiation factor eIF2B leads to function--and time-specific changes in brain gene expression
Q28485114A yeast purification system for human translation initiation factors eIF2 and eIF2Bε and their use in the diagnosis of CACH/VWM disease
Q37586538Absence of system xc- on immune cells invading the central nervous system alleviates experimental autoimmune encephalitis
Q34133006Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation
Q92786825Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia
Q42048869An inhibitor of eIF2 activity in the sRNA pool of eukaryotic cells
Q38934354Architecture of the eIF2B regulatory subcomplex and its implications for the regulation of guanine nucleotide exchange on eIF2.
Q48911592Atypical presentation of vanishing white matter disease
Q37455379CHOP and the endoplasmic reticulum stress response in myelinating glia
Q34404795CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutations
Q50767960Childhood Ataxia with Cerebral Hypomyelination Syndrome: a Variant of Patient with Early Childhood Onset Related to EIF2B3 Mutation. A Case Report.
Q42412345Critical contacts between the eukaryotic initiation factor 2B (eIF2B) catalytic domain and both eIF2beta and -2gamma mediate guanine nucleotide exchange.
Q27704065Crystal structure of eukaryotic translation initiation factor 2B
Q36922857Crystal structure of the C-terminal domain of the ɛ subunit of human translation initiation factor eIF2B.
Q28728163Developmental splicing deregulation in leukodystrophies related to EIF2B mutations
Q50614599Diagnostic algorithm for the differentiation of leukodystrophies in early MS.
Q36523093Different Eukaryotic Initiation Factor 2Bε Mutations Lead to Various Degrees of Intolerance to the Stress of Endoplasmic Reticulum in Oligodendrocytes
Q33498089Discovery of chemical modulators of a conserved translational control pathway by parallel screening in yeast
Q57073756Drug Screening Identifies Sigma-1-Receptor as a Target for the Therapy of VWM Leukodystrophy
Q46689920Early reduction of total N-acetyl-aspartate-compounds in patients with classical vanishing white matter disease. A long-term follow-up MRS study
Q36557541Eukaryotic initiation factor 2B and its role in alterations in mRNA translation that occur under a number of pathophysiological and physiological conditions
Q33722753Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients
Q35168282Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up
Q38337419Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bɛ (eIF2Bɛ) identified in Chinese patients with vanishing white matter disease
Q36723394GSK3β regulates AKT-induced central nervous system axon regeneration via an eIF2Bε-dependent, mTORC1-independent pathway.
Q31158574Genes involved in leukodystrophies: a glance at glial functions.
Q57814452Genetic and Clinical Heterogeneity in eIF2B-Related Disorder
Q51535832Genotype–phenotype correlation in vanishing white matter disease
Q83214853Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease
Q57640098Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice
Q33638923Inherited determinants of ovarian cancer survival
Q33710467Insights into the architecture of the eIF2Bα/β/δ regulatory subcomplex
Q89563243LEUKOENCEPHALOPATHY WITH EVANESCENT WHITE MATTER: A CASE REPORT
Q29395926Le syndrome CACH/VWM et les leucodystrophies liées à des mutations EIF2B
Q58485746Letter to the Editor: No evidence for association between the EIF2B5 gene and multiple sclerosis in French families
Q50777869Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy.
Q37788513Leukoencephalopathy With Vanishing White Matter: A Review
Q41919223Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus.
Q27485485Multidisciplinary Prospective Study of Mother-to-Child Chikungunya Virus Infections on the Island of La Réunion
Q38901362Mutant eIF2B leads to impaired mitochondrial oxidative phosphorylation in vanishing white matter disease
Q45922760Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.
Q34654324New insights into the genetic basis of infertility
Q47112435Novel mechanisms of eIF2B action and regulation by eIF2α phosphorylation.
Q36182431Paradoxical Sensitivity to an Integrated Stress Response Blocking Mutation in Vanishing White Matter Cells.
Q35590995Pharmacological dimerization and activation of the exchange factor eIF2B antagonizes the integrated stress response
Q28389410Poor cerebral inflammatory response in eIF2B knock-in mice: implications for the aetiology of vanishing white matter disease
Q35843362Proteomics-level analysis of myelin formation and regeneration in a mouse model for Vanishing White Matter disease.
Q36965192Purification of FLAG-tagged eukaryotic initiation factor 2B complexes, subcomplexes, and fragments from Saccharomyces cerevisiae
Q58590219Quantifying the contribution of recessive coding variation to developmental disorders
Q34488569Quantitative proteomic analysis identifies targets and pathways of a 2-aminobenzamide HDAC inhibitor in Friedreich's ataxia patient iPSC-derived neural stem cells.
Q53179669Role of Saccharomyces cerevisiae TAN1 (tRNA acetyltransferase) in eukaryotic initiation factor 2B (eIF2B)-mediated translation control and stress response.
Q34103337Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder
Q45945811Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.
Q34159126The emerging role of guanine nucleotide exchange factors in ALS and other neurodegenerative diseases.
Q37726434The molecular basis of translational control
Q34152320Vanishing white matter disease associated with ptosis and myoclonic seizures
Q46039775Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.
Q24339012XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription
Q90570845eIF2B and the Integrated Stress Response: A Structural and Mechanistic View

Search more.