Affinage

EIF2B5

Translation initiation factor eIF2B subunit epsilon · UniProt Q13144

Length
721 aa
Mass
80.4 kDa
Annotated
2026-06-09
40 papers in source corpus 16 papers cited in narrative 16 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 4/4 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

EIF2B5 (eIF2Bε) is the catalytic subunit of the eIF2B guanine nucleotide exchange factor that controls the rate of global protein synthesis by recycling eIF2-GDP to eIF2-GTP (PMID:10805739, PMID:20484009). Its C-terminal domain directly catalyzes GDP→GTP exchange on eIF2 and binds eIF2, while its N-terminal half is an activation domain that enhances exchange rate upon assembly with the other eIF2B subunits; disease and deletion mutations in either domain reduce GEF activity (PMID:10805739, PMID:18294360, PMID:23335982). eIF2Bε expression level is rate-limiting for GEF activity and protein synthesis in skeletal muscle (PMID:20484009). GEF activity is inhibited by a sequential phosphorylation cascade in which DYRK1A/DYRK2 prime at Ser539 to permit GSK3β-mediated inhibitory phosphorylation at Ser535 (PMID:11311121, PMID:24023715); this cascade is engaged during sepsis to suppress muscle protein synthesis and in cardiomyocytes to restrain hypertrophy, and is relieved by resistance exercise (PMID:12376332, PMID:24023715, PMID:18565837). eIF2Bε also acts downstream of the AKT–GSK3β axis to promote CNS axon regeneration independently of mTORC1 (PMID:26974342), and under hypoxia an intron-retention isoform produces a truncated dominant-negative eIF2Bε that opposes the full-length protein and inhibits translation while promoting cell survival (PMID:28961236). Loss of eIF2Bε GEF activity is the proximate biochemical defect in Vanishing White Matter disease/CACH, elevating ATF4 and the integrated stress response (PMID:23335982, PMID:31587290); cell-type-specific mouse studies establish that oligodendrocyte-autonomous dysfunction drives ataxia and hypomyelination whereas astrocyte-specific dysfunction drives the ISR/ATF4 pathology (PMID:40326783), and eIF2Bε is required for astrocyte generation from glial progenitors (PMID:15723074).

Mechanistic history

Synthesis pass · year-by-year structured walk · 16 steps
  1. 2000 High

    Established the domain architecture of eIF2Bε, separating a C-terminal catalytic/eIF2-binding module from an N-terminal activation domain that responds to complex assembly.

    Evidence In vitro GEF assays with deletion and missense mutants of yeast eIF2Bε plus subunit/eIF2 binding assays

    PMID:10805739

    Open questions at the time
    • Mapped in yeast; precise structural basis of activation by complex formation not resolved
    • Does not address regulation in vertebrates
  2. 2001 High

    Defined the inhibitory phosphorylation mechanism by showing DYRK1A/DYRK2 prime Ser539 to enable GSK3-mediated phosphorylation at the inhibitory site.

    Evidence In vitro kinase assays with recombinant DYRK and GSK3, phospho-specific immunoblotting, in vivo metabolic labeling

    PMID:11311121

    Open questions at the time
    • Upstream signals controlling the kinases not defined here
    • Structural consequence of phosphorylation on GEF activity unresolved
  3. 2002 Medium

    Connected the phosphorylation cascade to a physiological stress, showing sepsis raises eIF2Bε Ser535 phosphorylation and suppresses muscle protein synthesis via TNF/GSK3.

    Evidence Phospho-immunoblotting and eIF2B activity assays in rat muscle with TNF-binding protein intervention

    PMID:12376332

    Open questions at the time
    • Correlative phosphorylation/activity link
    • Single lab, indirect kinase involvement
  4. 2005 High

    Revealed a cell-type-specific requirement by showing eIF2Bε is needed to generate GFAP+ astrocytes from human glial progenitors.

    Evidence RNAi knockdown in human glial progenitors and VWM patient-derived cultures with GFAP immunocytochemistry

    PMID:15723074

    Open questions at the time
    • Molecular basis of selective astrocyte requirement unknown
    • Does not address oligodendrocyte contribution to disease
  5. 2008 Medium

    Showed that exon-6 loss eliminates the protein and severely reduces GEF activity, confirming the non-catalytic domain is required for complex formation and function.

    Evidence RT-PCR, immunoblot and GEF activity assay in patient lymphoblastoid cells

    PMID:18294360

    Open questions at the time
    • Patient-cell readout; structural role of exon-6 region not mapped
  6. 2008 Medium

    Demonstrated physiological de-repression by showing resistance exercise lowers eIF2Bε inhibitory phosphorylation in human muscle.

    Evidence Phospho-specific immunoblotting of human muscle biopsies under exercise/feeding conditions

    PMID:18565837

    Open questions at the time
    • No direct measurement of GEF activity change
    • Correlation with protein synthesis only inferred
  7. 2010 High

    Established that eIF2Bε is rate-limiting in vivo by rescuing the septic deficit in muscle GEF activity and protein synthesis through ectopic expression.

    Evidence In vivo plasmid transfection of rat muscle with GEF activity and [3H]phenylalanine incorporation

    PMID:20484009

    Open questions at the time
    • Tissue-specific; whether other subunits are co-limiting not tested
  8. 2013 High

    Extended the DYRK2/GSK3β cascade to cardiac biology, showing phosphorylation state of eIF2Bε controls cardiomyocyte hypertrophy.

    Evidence Reciprocal siRNA/adenoviral manipulation in cardiomyocytes and transgenic eIF2Bε / S535A mice with hypertrophy assays

    PMID:24023715

    Open questions at the time
    • Downstream translational targets driving hypertrophy not identified
  9. 2013 High

    Localized VWM disease mutations to the catalytic domain and showed they directly reduce GEF activity in a reconstituted human assay.

    Evidence Purified human eIF2Bε C-terminal domain and eIF2 in vitro GEF assays comparing WT and disease mutants

    PMID:23335982

    Open questions at the time
    • Tested isolated C-terminal domain, not full pentamer
    • Per-mutation severity not linked to clinical phenotype
  10. 2016 High

    Placed eIF2Bε downstream of AKT-GSK3β in CNS axon regeneration, independent of mTORC1.

    Evidence Conditional knockout and constitutively active eIF2Bε alleles in retinal ganglion cells with optic nerve crush and genetic epistasis

    PMID:26974342

    Open questions at the time
    • Translational targets mediating regeneration not defined
  11. 2017 High

    Uncovered an isoform-based regulatory mechanism whereby hypoxia-driven intron retention generates a dominant-negative truncated eIF2Bε that suppresses translation.

    Evidence RNA-seq, RT-PCR, truncated protein detection, polysome profiling, SRSF3 RIP and RNA Pol II ChIP

    PMID:28961236

    Open questions at the time
    • Mechanism by which truncated form opposes full-length not structurally defined
    • In vivo relevance beyond cell models not shown
  12. 2019 Medium

    Established loss of GEF activity with elevated ATF4 as the proximate biochemical defect underlying VWM neuropathology.

    Evidence GEF assay and ATF4 immunoblotting on brain extracts plus behavioral/histological analysis of Eif2b5 I98M mice

    PMID:31587290

    Open questions at the time
    • Single mutant allele
    • Cell types driving phenotype not separated
  13. 2020 Medium

    Linked a truncated eif2b5 transcript to feed-forward integrated stress response activation and motor impairment in VWM.

    Evidence Zebrafish eif2b5 mutant analysis with truncated mRNA injection, ISR reporters and motor assays

    PMID:33300869

    Open questions at the time
    • Model organism; relevance of feed-forward ISR to mammalian disease not confirmed
  14. 2021 Medium

    Showed eIF2Bε is required for Wnt-driven clonogenicity and translational capacity in intestinal stem cells.

    Evidence Eif2b5 R191H knock-in mice and organoids with GSK3β inhibitor treatment and translation assays

    PMID:34399164

    Open questions at the time
    • Direct molecular link between Wnt/GSK3β and eIF2Bε activity not isolated
  15. 2025 High

    Dissected the cellular origin of VWM pathology, assigning ataxia/hypomyelination to oligodendrocyte-autonomous dysfunction and ISR/ATF4 pathology to astrocytes.

    Evidence Cell-type-specific conditional Eif2b5 knock-in mice (oligodendrocyte/astrocyte/neuron) with motor, myelin and ATF4 transcriptome readouts

    PMID:40326783

    Open questions at the time
    • How GEF deficiency selectively impairs oligodendrocyte maturation unresolved
    • Crosstalk between cell types not fully defined
  16. 2025 Medium

    Identified a non-canonical interaction of eIF2Bε with ribosomal protein RPL6 promoting PI3K/AKT/mTOR signaling and hepatocellular carcinoma growth.

    Evidence Mass spectrometry, single Co-IP, knockdown/overexpression and ectopic tumor mouse model

    PMID:40246131

    Open questions at the time
    • Single Co-IP without reciprocal validation
    • Whether interaction is independent of GEF function unclear

Open questions

Synthesis pass · forward-looking unresolved questions
  • It remains unknown how the GEF deficiency mechanistically produces oligodendrocyte-selective failure and how the canonical eIF2B GEF role integrates with the newly reported RPL6/PI3K-AKT-mTOR axis.
  • No structural model of the human pentamer with mutations
  • Cell-type selectivity of translational vulnerability unexplained
  • Relationship between GEF-independent functions and canonical activity undefined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140096 catalytic activity, acting on a protein 4 GO:0098772 molecular function regulator activity 2
Localization
GO:0005829 cytosol 1
Pathway
R-HSA-162582 Signal Transduction 3 R-HSA-8953897 Cellular responses to stimuli 3
Partners
DYRK1ADYRK2EIF2S1GSK3BRPL6
Complex memberships
eIF2B

Evidence

Reading pass · 16 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2000 The C-terminal region of eIF2Bε (residues 518–712 in yeast) is required for both catalytic GEF activity and interaction with eIF2, while the N-terminal half is an activation domain that mediates enhancement of nucleotide exchange rate upon eIF2B complex formation. Missense mutations in the N-terminal region impair complex formation-stimulated activity without affecting basal GEF activity of eIF2Bε alone. In vitro GEF assays, in-frame deletion and missense mutation analysis of yeast eIF2Bε (GCD6), binding assays with eIF2B subunits and eIF2 Molecular and cellular biology High 10805739
2001 DYRK1A and DYRK2 phosphorylate eIF2Bε at Ser539 (rat; equivalent Ser535 context), and this phosphorylation primes the subsequent inhibitory phosphorylation of Ser535 by GSK3 in vitro. eIF2Bε is highly phosphorylated at Ser539 in vivo, establishing a two-kinase sequential phosphorylation cascade that inhibits eIF2Bε GEF activity. In vitro kinase assays with recombinant DYRK isoforms and GSK3; phospho-specific immunoblotting; in vivo phosphorylation confirmed by metabolic labeling The Biochemical journal High 11311121
2002 During sepsis, eIF2B kinase activity is elevated and eIF2Bε Ser535 phosphorylation is increased ~2–2.5-fold, correlating with reduced eIF2B GEF activity and impaired skeletal muscle protein synthesis. GSK3 phosphorylation (Ser9, inactivating) is decreased, consistent with activated GSK3 driving eIF2Bε phosphorylation. TNF-binding protein treatment prevents these changes, implicating TNF in the pathway. Phospho-specific immunoblotting in rat gastrocnemius; eIF2B kinase/phosphatase activity assays; pharmacological inhibition with TNF-binding protein American journal of physiology. Endocrinology and metabolism Medium 12376332
2005 EIF2B5 is required for the generation of GFAP+ astrocytes from glial progenitors. RNAi knockdown of EIF2B5 in normal human glial progenitors severely compromised induction of GFAP+ cells, and cultures from a VWM patient with EIF2B5 mutations produced few morphologically normal astrocytes despite normal oligodendrocyte generation. RNAi knockdown of EIF2B5 in primary human glial progenitors; immunocytochemistry for GFAP; primary cell cultures from VWM patient brain Nature medicine High 15723074
2008 A splice-site mutation in EIF2B5 causing exon 6 deletion abolishes detectable protein from that allele and severely reduces eIF2B GEF activity, demonstrating that the non-catalytic domain encoded by exon 6 is required for eIF2B complex formation and activity. RT-PCR of patient lymphoblastoid cells; eIF2B GEF activity assay; protein detection by immunoblot Annals of human genetics Medium 18294360
2008 Resistance exercise reduces phosphorylation of eIF2Bε at Ser540 in human skeletal muscle, suggesting exercise-induced activation of eIF2B GEF activity contributes to stimulation of muscle protein synthesis. Muscle biopsy; phospho-specific immunoblotting in young men under fasted/fed and exercise/rest conditions American journal of physiology. Regulatory, integrative and comparative physiology Medium 18565837
2010 Ectopic expression of eIF2Bε in rat tibialis anterior increased eIF2B GEF activity, and expression of eIF2Bε in septic rats rescued the deficit in eIF2B GEF activity and skeletal muscle protein synthesis, demonstrating that eIF2Bε expression level is rate-limiting for GEF activity and protein synthesis in skeletal muscle. Plasmid transfection into rat tibialis anterior in vivo; GEF activity assay; [3H]phenylalanine incorporation to measure protein synthesis American journal of physiology. Endocrinology and metabolism High 20484009
2013 DYRK2 acts as a priming kinase for GSK3β-mediated inhibitory phosphorylation of eIF2Bε in cardiomyocytes. siRNA knockdown of DYRK2 decreased p(S535)-eIF2Bε levels, while adenoviral overexpression of DYRK2 increased eIF2Bε phosphorylation. Constitutively active eIF2Bε-S535A (non-phosphorylatable) promoted cardiac hypertrophy, whereas DYRK2 overexpression reduced cardiomyocyte size and diminished hypertrophic response. siRNA knockdown; adenoviral overexpression in cultured cardiomyocytes; transgenic mice with cardiac-specific eIF2Bε or eIF2Bε-S535A; immunoblotting; cardiomyocyte size measurement; isoproterenol treatment and aortic banding PloS one High 24023715
2013 The C-terminal catalytic domain of human eIF2Bε expressed in yeast has GEF activity, and CACH/VWM disease mutations within this domain reduce its GEF activity, as measured in a reconstituted assay with purified human eIF2 and human eIF2Bε C-terminal domain. Recombinant protein purification from yeast; in vitro GEF assay; comparison of wild-type and disease-mutant forms PloS one High 23335982
2016 eIF2Bε is a downstream effector of the AKT-GSK3β signaling axis in CNS axon regeneration. Constitutive activation of eIF2Bε is sufficient to promote axon regeneration after optic nerve injury, and inactivation of eIF2Bε reduces both GSK3β- and AKT-mediated axon regeneration. This pathway acts independently of mTORC1. Conditional knockout and constitutively active knock-in alleles of eIF2Bε in mouse retinal ganglion cells; optic nerve crush injury model; axon counting; epistasis by genetic double mutants eLife High 26974342
2017 Under hypoxia, intron retention in EIF2B5 creates a premature termination codon producing a 65 kDa truncated eIF2Bε isoform that opposes full-length eIF2Bε and inhibits global translation. Hypoxia-induced SRSF3 binding and increased phospho-Ser2 RNA Pol II at the retained intron promote its retention. Expression of the 65 kDa isoform increases cell survival under hypoxia. RNA-seq; RT-PCR; western blot to detect truncated protein; overexpression of truncated isoform; polysome profiling/translation assays; RIP for SRSF3; ChIP for RNA Pol II modifications PLoS biology High 28961236
2019 The Eif2b5 p.Ile98Met mutation in mice decreases eIF2B guanine nucleotide exchange activity on eIF2, elevates ATF4 (integrated stress response marker), and causes neurological defects including epilepsy and shortened lifespan, establishing loss of GEF activity as the proximate biochemical defect in VWM. GEF activity assay on brain extracts; ATF4 immunoblotting; behavioral and histological analysis of spontaneous mutant mouse Journal of neurochemistry Medium 31587290
2020 Intron 12 retention in zebrafish eif2b5 leads to expression of a truncated eif2b5 transcript; forced expression of this truncated form in wild-type zebrafish impairs motor behavior and activates the integrated stress response (ISR), implicating a feed-forward ISR activation as part of VWM pathophysiology. Zebrafish eif2b5 mutant characterization; mRNA injection of truncated eif2b5 into wild-type larvae; ISR reporter assays; motor behavior assays eLife Medium 33300869
2021 eIF2Bε is required for Wnt-mediated clonogenicity and the associated increase in global translational capacity in intestinal epithelial cells. Using eIF2BεArg191His dysfunctional mice, eIF2Bε loss impairs crypt formation, stemness marker expression, and Paneth cell granule formation; Wnt hyperactivation by GSK3β inhibition requires eIF2Bε for clonogenic expansion. Eif2b5 Arg191His knock-in mice; intestinal organoid culture; GSK3β inhibitor treatment; immunofluorescence; polysome/translation capacity assays Stem cell research Medium 34399164
2025 Cell-type-specific conditional Eif2b5 mutation in oligodendrocytes (but not neurons) recapitulates the major motor phenotype of VWM mice, with unmyelinated axons, immature cycling oligodendrocytes, and reactive astrocytes. Astrocyte-specific Eif2b5 mutation causes vacuolization and elevated ATF4 transcriptome but only mild ataxia. This establishes oligodendrocytes as the primary cell type driving ataxia in VWM, while astrocytes drive ISR/ATF4 pathology. Cell type-specific Cre-driven conditional Eif2b5 knock-in mice (astrocyte-, oligodendrocyte-, neuron-specific); motor behavior testing; immunohistochemistry; myelin/axon analysis; ATF4 transcriptome analysis Brain : a journal of neurology High 40326783
2025 EIF2B5 directly interacts with ribosomal protein RPL6 (identified by mass spectrometry and confirmed by co-immunoprecipitation), and EIF2B5 overexpression promotes RPL6 expression and activates the PI3K/AKT/mTOR pathway, driving HCC cell proliferation and invasion. Mass spectrometry; co-immunoprecipitation; western blot; siRNA knockdown; overexpression; mouse ectopic tumor assay Cellular signalling Medium 40246131

Source papers

Stage 0 corpus · 40 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2001 The kinase DYRK phosphorylates protein-synthesis initiation factor eIF2Bepsilon at Ser539 and the microtubule-associated protein tau at Thr212: potential role for DYRK as a glycogen synthase kinase 3-priming kinase. The Biochemical journal 273 11311121
2005 EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy. Nature medicine 109 15723074
2002 Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. Annals of neurology 104 12325082
2000 Identification of domains and residues within the epsilon subunit of eukaryotic translation initiation factor 2B (eIF2Bepsilon) required for guanine nucleotide exchange reveals a novel activation function promoted by eIF2B complex formation. Molecular and cellular biology 84 10805739
2016 GSK3β regulates AKT-induced central nervous system axon regeneration via an eIF2Bε-dependent, mTORC1-independent pathway. eLife 75 26974342
2008 Resistance exercise decreases eIF2Bepsilon phosphorylation and potentiates the feeding-induced stimulation of p70S6K1 and rpS6 in young men. American journal of physiology. Regulatory, integrative and comparative physiology 64 18565837
2004 Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults. Neurology 55 15136689
2004 Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5. Neurology 47 15136690
2017 Transcriptome analysis of hypoxic cancer cells uncovers intron retention in EIF2B5 as a mechanism to inhibit translation. PLoS biology 40 28961236
2022 LncRNA KCNQ1OT1 promotes the metastasis of ovarian cancer by increasing the methylation of EIF2B5 promoter. Molecular medicine (Cambridge, Mass.) 24 36100884
2010 Epigenetic control of translation regulation: alterations in histone H3 lysine 9 post-translation modifications are correlated with the expression of the translation initiation factor 2B (Eif2b5) during thermal control establishment. Developmental neurobiology 24 19950192
2002 Phosphorylation of eukaryotic initiation factor eIF2Bepsilon in skeletal muscle during sepsis. American journal of physiology. Endocrinology and metabolism 23 12376332
2020 Vanishing white matter disease expression of truncated EIF2B5 activates induced stress response. eLife 21 33300869
2019 Glial pathology in a novel spontaneous mutant mouse of the Eif2b5 gene: a vanishing white matter disease model. Journal of neurochemistry 19 31587290
2013 DYRK2 negatively regulates cardiomyocyte growth by mediating repressor function of GSK-3β on eIF2Bε. PloS one 17 24023715
2006 Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation. Neurology 15 16864840
2010 Ectopic expression of eIF2Bepsilon in rat skeletal muscle rescues the sepsis-induced reduction in guanine nucleotide exchange activity and protein synthesis. American journal of physiology. Endocrinology and metabolism 14 20484009
2022 CircAHNAK upregulates EIF2B5 expression to inhibit the progression of ovarian cancer by modulating the JAK2/STAT3 signaling pathway. Carcinogenesis 12 35710311
2018 Adult mouse eIF2Bε Arg191His astrocytes display a normal integrated stress response in vitro. Scientific reports 12 29491431
2013 A yeast purification system for human translation initiation factors eIF2 and eIF2Bε and their use in the diagnosis of CACH/VWM disease. PloS one 12 23335982
2016 Ovarioleukodystrophy due to EIF2B5 mutations. Practical neurology 11 27651498
2008 Exon deletion in the non-catalytic domain of eIF2Bepsilon due to a splice site mutation leads to infantile forms of CACH/VWM with severe decrease of eIF2B GEF activity. Annals of human genetics 9 18294360
2015 No evidence for a role of Ile587Val polymorphism of EIF2B5 gene in multiple sclerosis in Kashmir Valley of India. Journal of the neurological sciences 6 26671108
2024 In vivo base editing of a pathogenic Eif2b5 variant improves vanishing white matter phenotypes in mice. Molecular therapy : the journal of the American Society of Gene Therapy 5 38454603
2020 A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy. Annals of clinical and translational neurology 5 33245593
2015 Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism. American journal of medical genetics. Part A 5 25758335
2011 Ovarioleukodystrophy: report of a case with the c.338G>A (p.Arg113His) mutation on exon 3 and the c.896G>A (p.Arg299His) mutation on exon 7 of the EIF2B5 gene. BMJ case reports 5 22699478
2017 Multiple Sclerosis and EIF2B5: A Paradox or a Missing Link. Advances in experimental medicine and biology 4 28093708
2022 Association Between Late-Onset Leukoencephalopathy With Vanishing White Matter and Compound Heterozygous EIF2B5 Gene Mutations: A Case Report and Review of the Literature. Frontiers in neurology 3 35785335
2018 Vanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up. Clinical neurology and neurosurgery 3 29933199
2017 [Association between homozygous c.318A>GT mutation in exon 2 of the EIF2B5 gene and the infantile form of vanishing white matter leukoencephalopathy]. Boletin medico del Hospital Infantil de Mexico 3 29382480
2014 Novel mutations identified in EIF2B5 gene in Kashmiri patients as susceptibility factor for multiple sclerosis. Indian journal of biochemistry & biophysics 3 24980014
2014 Vanishing white matter disease with mutations in EIF2B5 gene. Indian journal of pediatrics 3 25230711
2025 Cell-specific Eif2b5 mutant mice: novel insights into roles of macroglia in vanishing white matter. Brain : a journal of neurology 2 40326783
2021 Translation initiation factor eIF2Bε promotes Wnt-mediated clonogenicity and global translation in intestinal epithelial cells. Stem cell research 2 34399164
2025 EIF2B5 promotes malignant progression of hepatocellular carcinoma by activating the PI3K/AKT signaling pathway through targeting RPL6. Cellular signalling 1 40246131
2026 Adult-onset vanishing white matter disease caused by the EIF2B5 c.185A>T (p.Asp62Val) variant. Frontiers in genetics 0 41700296
2025 "Case report": Whole-exome sequencing reveals compound heterozygous variants in the EIF2B5 gene in a familial case of vanishing white matter. Frontiers in genetics 0 41244982
2024 [Vanishing white matter disease, a rare leukodystrophy with mutation in the EIF2B5 gene]. Ideggyogyaszati szemle 0 38829246
2023 A novel missense variant in EIF2B5 identified in a consanguineous Iranian family with vanishing white matter disease and a brief review of the literature. Journal of genetics 0 37674283

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