Research Topics
Genomes and GenesSpecies | Gert C ScheperSummaryAffiliation: VU University Medical Center Country: The Netherlands Publications
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Detail Information
Publications
Glia-specific activation of all pathways of the unfolded protein response in vanishing white matter diseaseBarbara Van Kollenburg
Department of Pediatrics/Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
J Neuropathol Exp Neurol 65:707-15. 2006..The selective involvement of these cells suggests that inappropriate UPR activation may play a key role in the pathophysiology of VWM...
eIF2B-related disorders: antenatal onset and involvement of multiple organsMarjo S van der Knaap
Department of Child Neurology, Free University Medical Center, Amsterdam, The Netherlands
Am J Hum Genet 73:1199-207. 2003....- The unfolded protein response in vanishing white matter diseaseJ Patrick van der Voorn
Department of Pediatrics Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
J Neuropathol Exp Neurol 64:770-5. 2005..We demonstrate activation of the UPR in glia of patients with VWM. Our findings may point to a possible explanation for the dysmorphic glia, the increased numbers of oligodendrocytes, and the apoptotic loss of oligodendrocytes in VWM... - Defective translation initiation causes vanishing of cerebral white matterGert C Scheper
Department of Pediatrics, VU University Medical Center, 1081 HV Amsterdam, The Netherlands
Trends Mol Med 12:159-66. 2006..Here, we discuss the mechanisms that might be responsible for the selective involvement of the brain white matter in VWM. At present, VWM research is in need of an animal model to study disease mechanisms and therapeutic interventions... - Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1P K Ilja Boor
Department of Pediatrics Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
Hum Mutat 27:505-12. 2006..Therefore, we suggest extended mutation analysis for the MLC1 gene, if no mutations are found during standard analysis... 
Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cystsGert C Scheper
Department of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands
Genet Test Mol Biomarkers 14:255-7. 2010..Further, in electrophysiological experiments, one of the observed amino acid changes was shown to have no effect on the ClC-2-mediated currents. In conclusion, we found no evidence suggesting that the CLCN2 gene is involved in MLC...- Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevationGert C Scheper
Department of Pediatrics and Child Neurology, Vrije University Medical Center, 1081 HV Amsterdam, The Netherlands
Nat Genet 39:534-9. 2007..Enzyme activities of mutant proteins were decreased. We were surprised to find that activities of mitochondrial complexes from fibroblasts and lymphoblasts derived from affected individuals were normal, as determined by different assays... - Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse waysLaura van Berge
Department of Child Neurology, VU University Medical Center, De Boelalaan 1117, 1081 HV Amsterdam, The Netherlands
Biochem J 450:345-50. 2013..Most mutations have a clear impact on at least one of the properties of mtAspRS studied, probably resulting in a small contribution of the missense variants to the mitochondrial aspartylation activity in the cell... - Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNALaura van Berge
Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
Biochem J 441:955-62. 2012..The combined result of these two effects may explain the selective vulnerability of specific white matter tracts in LBSL patients... - Regulation of protein synthesis in lymphoblasts from vanishing white matter patientsBarbara Van Kollenburg
Dept. of Pediatrics/Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
Neurobiol Dis 21:496-504. 2006..These findings could form part of the explanation for the episodes of rapid and severe deterioration in VWM patients that are precipitated by febrile infections... - Vanishing white matter disease: a review with focus on its geneticsJan C Pronk
Department of Human Genetics, VU University Medical Center, Amsterdam, The Netherlands
Ment Retard Dev Disabil Res Rev 12:123-8. 2006..The pathophysiology of the disease is still poorly understood... - MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeetIlja Boor
Department of Pediatrics Child Neurology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
Acta Neuropathol 114:403-10. 2007..We demonstrated a direct protein interaction between MLC1 and Kir4.1. From these results we conclude that MLC1 is associated with the DGC at astrocytic endfeet... - Vanishing white matter diseaseMarjo S van der Knaap
Department of Pediatrics and Child Neurology, VU University Medical Center, Amsterdam, Netherlands
Lancet Neurol 5:413-23. 2006..Recently, undue activation of the unfolded-protein response has emerged as important in the pathophysiology of VWM, but the selective vulnerability of glia for defects in eIF2B is poorly understood... - Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulationMargreet C Ridder
Department of Child Neurology, VU University Medical Center, 1081 HV Amsterdam, The Netherlands
Brain 134:3342-54. 2011.... - Leukoencephalopathy with vanishing white matter: a reviewMarianna Bugiani
Departments of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands
J Neuropathol Exp Neurol 69:987-96. 2010..In view of the fact that VWM genes are housekeeping genes, it is surprising that the disease is primarily a leukoencephalopathy. The pathophysiology of selective glial vulnerability in VWM remains poorly understood... - Defective glial maturation in vanishing white matter diseaseMarianna Bugiani
Department of Pediatrics Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
J Neuropathol Exp Neurol 70:69-82. 2011..We also demonstrated a significant increase in numbers of premyelinating oligodendrocyte progenitors in VWM, which may explain the coexistence of oligodendrocytosis and myelin paucity in the patients' white matter... - Megalencephalic leukoencephalopathy with cysts without MLC1 defectMarjo S van der Knaap
Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
Ann Neurol 67:834-7. 2010..They lacked motor decline. Five had normal intelligence; 3 displayed cognitive deficiency. In conclusion, 2 phenotypes can be distinguished among the non-MLC1 mutated MLC patients: a classical and a benign phenotype... - MLC1: a novel protein in distal astroglial processesP K Ilja Boor
Department of Pediatrics Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
J Neuropathol Exp Neurol 64:412-9. 2005..Elucidation of the function of MLC1 will contribute to a better understanding of not only the pathophysiology of the disease, but also the role of astrocytes in normal neural tissue... - Fright is a provoking factor in vanishing white matter diseaseGerre Vermeulen
Department of Pediatrics/Child Neurology, Vrije Universiteit Medical Center, Amsterdam, The Netherlands
Ann Neurol 57:560-3. 2005..These episodes typically are provoked by febrile infections or minor head trauma. We report on two patients who experienced an episode of rapid neurological deterioration after a fright... - Vanishing white matter disease: the first reported chinese patientSheila S N Wong
Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Kowloon, Hong Kong SAR, China
J Child Neurol 23:710-4. 2008..We describe the first Chinese patient with typical clinical and radiological features genetically confirmed to have vanishing white matter disease for a mutation in EIF2B4, followed by a brief review of the disease... - Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish casesHanna Mierzewska
Division of Metabolic Disease, Department of Pediatrics, The Children s Memorial Health Institute, Aleja Dzieci Polskich 20, 04 730 Warsaw, Poland
Folia Neuropathol 44:144-8. 2006..A homozygous point mutation in the EIF2B2 gene was found, 638A>G. Both the parents were found to be carriers of this mutation. This is the first description of a Polish family with VWM... - Translation matters: protein synthesis defects in inherited diseaseGert C Scheper
Department of Child Neurology Center for Neurogenomics and Cognitive Research, Vrije Universiteit Medical Center, De Boelelaan 1117, 1081HV Amsterdam, The Netherlands
Nat Rev Genet 8:711-23. 2007..Given the numerous proteins involved in mRNA translation, it is likely that further inherited diseases will turn out to be caused by mutations in genes that are involved in this complex process... - Non-eIF2B-related cystic leukoencephalopathy of unknown originMarjo S van der Knaap
Ann Neurol 59:724. 2006 - The N and C termini of the splice variants of the human mitogen-activated protein kinase-interacting kinase Mnk2 determine activity and localizationGert C Scheper
Division of Molecular Physiology, Faculty of Life Sciences, University of Dundee, Dundee, United Kingdom
Mol Cell Biol 23:5692-705. 2003..Within the nucleus, Mnk2b and certain variants of Mnk2a that are present in the nucleus colocalize with the promyelocytic leukemia protein PML, which also binds to eIF4E... - Localisation and regulation of the eIF4E-binding protein 4E-BP3Miranda Kleijn
Division of Molecular Physiology, School of Life Sciences, University of Dundee, DD1 5EH, Dundee, UK
FEBS Lett 532:319-23. 2002..Furthermore, 4E-BP3/eIF4E association in the cytoplasm was regulated by serum or interleukin-2 starvation in the different cell types. Rapamycin did not affect the association of eIF4E with 4E-BP3 in the cytoplasm or in the nucleus... - Does phosphorylation of the cap-binding protein eIF4E play a role in translation initiation?Gert C Scheper
Division of Molecular Physiology, School of Life Sciences, University of Dundee, MSI WTB complex, Dow Street, UK
Eur J Biochem 269:5350-9. 2002..The implications of these studies are discussed in the light of other, in vitro and in vivo, investigations designed to address the role of eIF4E phosphorylation in mRNA translation or its control...