Dirk J Lefeber

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. ncbi request reprint Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups
    Suzan Wopereis
    Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Center, 6525 GA Nijmegen, The Netherlands
    Glycobiology 15:1312-9. 2005
  2. pmc Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies
    Dirk J Lefeber
    Laboratory of Pediatrics and Neurology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 85:76-86. 2009
  3. pmc Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome
    Karen Buysse
    Department of Human Genetics 855, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mol Genet 22:1746-54. 2013
  4. ncbi request reprint Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria
    Suzan Wopereis
    Radboud University Nijmigen Medical Center, Laboratory of Pediatrics and Neurology, The Netherlands, and The Children s Hospital at Westmead, NSW Sydney, Australia
    Biochim Biophys Acta 1762:598-607. 2006
  5. doi request reprint Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa
    Mailys Guillard
    Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
    Biochim Biophys Acta 1792:903-14. 2009
  6. ncbi request reprint A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia
    Eva Morava
    Department of Pediatrics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Eur J Hum Genet 15:638-45. 2007
  7. doi request reprint Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia
    Gerben Truin
    Department of Pediatrics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
    Mol Genet Metab 94:481-4. 2008
  8. doi request reprint Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations
    Eva Morava
    Department of Pediatrics at the Institute for Genetic and Metabolic Diseases, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Pediatrics 130:e1034-9. 2012
  9. pmc Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation
    Dirk J Lefeber
    Department of Neurology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    PLoS Genet 7:e1002427. 2011
  10. doi request reprint Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing
    Sharita Timal
    Department of Neurology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Hum Mol Genet 21:4151-61. 2012

Collaborators

Detail Information

Publications22

  1. ncbi request reprint Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups
    Suzan Wopereis
    Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Center, 6525 GA Nijmegen, The Netherlands
    Glycobiology 15:1312-9. 2005
    ..Dividing the CDG-IIx patients in six subgroups narrows down drastically the options of the primary defect in each of the subgroups and will be helpful to define new CDG type II defects...
  2. pmc Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies
    Dirk J Lefeber
    Laboratory of Pediatrics and Neurology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 85:76-86. 2009
    ..This mild Dol-P-Man biosynthesis defect due to DPM3 mutations is a cause for alpha-dystroglycanopathy, thereby bridging the congenital disorders of glycosylation with the dystroglycanopathies...
  3. pmc Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome
    Karen Buysse
    Department of Human Genetics 855, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mol Genet 22:1746-54. 2013
    ..These functional studies identify an important role of B3GNT1 in the synthesis of the uncharacterized laminin-binding glycan of αDG and implicate B3GNT1 as a novel causative gene for WWS...
  4. ncbi request reprint Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria
    Suzan Wopereis
    Radboud University Nijmigen Medical Center, Laboratory of Pediatrics and Neurology, The Netherlands, and The Children s Hospital at Westmead, NSW Sydney, Australia
    Biochim Biophys Acta 1762:598-607. 2006
    ..N-glycosylation of serum proteins seems largely unaffected. Sialuria is the first metabolic disorder presenting with hypersialylated O-glycans...
  5. doi request reprint Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa
    Mailys Guillard
    Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
    Biochim Biophys Acta 1792:903-14. 2009
    ..A clinical overview of cutis laxa syndromes is presented with a focus on ARCL II. Finally, the relationship between ATP6V0A2 mutations, the glycosylation defect and the ARCLII phenotype is discussed...
  6. ncbi request reprint A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia
    Eva Morava
    Department of Pediatrics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Eur J Hum Genet 15:638-45. 2007
    ..The presence of the characteristic phenotype might warrant direct DNA analysis...
  7. doi request reprint Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia
    Gerben Truin
    Department of Pediatrics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
    Mol Genet Metab 94:481-4. 2008
    ..Future therapeutic efforts should be directed to inhibit the abnormal immune response and excessive protein transport in this life-threatening complication of CDG syndrome...
  8. doi request reprint Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations
    Eva Morava
    Department of Pediatrics at the Institute for Genetic and Metabolic Diseases, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Pediatrics 130:e1034-9. 2012
    ..We suggest testing for ALG1 mutations in unsolved CDG patients with a type 1 transferrin isoelectric focusing pattern, especially with epilepsy, severe visual loss and hemorrhagic/thrombotic events...
  9. pmc Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation
    Dirk J Lefeber
    Department of Neurology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    PLoS Genet 7:e1002427. 2011
    ..We thus identified a combined deficiency of protein N-glycosylation and alpha-dystroglycan O-mannosylation in patients with nonsyndromic DCM due to autosomal recessive DOLK mutations...
  10. doi request reprint Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing
    Sharita Timal
    Department of Neurology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Hum Mol Genet 21:4151-61. 2012
    ..Combined with these results, the gene defect has been identified in 98% of our CDG-I patients. Our results implicate the potential of WES to unravel disease genes in the CDG-I in newly diagnosed singleton families...
  11. doi request reprint A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism
    Eva Morava
    Radboud University Nijmegen Medical Centre, Institute for Genetic and Metabolic Disease, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Brain 133:3210-20. 2010
    ....
  12. doi request reprint Automated measurement of permethylated serum N-glycans by MALDI-linear ion trap mass spectrometry
    Mailys Guillard
    Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
    Carbohydr Res 344:1550-7. 2009
    ..Although sample processing still needs optimization, this method provides a reproducible and high-throughput approach for measurement of N-glycans using a MALDI-linear ion trap instrument...
  13. pmc Autosomal recessive cutis laxa syndrome revisited
    Eva Morava
    Department of Paediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 17:1099-110. 2009
    ..Based on the recently unraveled novel genetic entity we also review the genetic aspects in cutis laxa syndromes including genotype-phenotype correlations and suggest a practical diagnostic approach...
  14. doi request reprint Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II
    Mailys Guillard
    Department of Laboratory Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Clin Chem 57:593-602. 2011
    ..Transferrin isoelectric focusing has been the method of choice for CDG screening; however, improved methods are required for the molecular diagnosis of patients with CDG type II...
  15. pmc Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
    Tony Roscioli
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Nat Genet 44:581-5. 2012
    ..These results implicate ISPD in a-dystroglycan glycosylation in maintaining sarcolemma integrity in vertebrates...
  16. pmc Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I
    Mailys Guillard
    Institute for Genetic and Metabolic Disease, Department of Laboratory Medicine Department of Neurolog, Radboud University Nijmegen Medical Centre, Geert Grooteplein 10, 6525, GA, Nijmegen, The Netherlands
    J Inherit Metab Dis 34:901-6. 2011
    ..In case 2, a peptide with mutation p.Asn432His was found. These results show the use of mass spectrometry of transferrin peptides in the diagnostic track of CDG type I...
  17. doi request reprint B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement
    Mailys Guillard
    Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Pediatr 159:1041-3.e2. 2011
    ..The tissue-specific expression of the defective B4GALT1 gene correlated with the clinical phenotype...
  18. pmc Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia
    Janneke H M Schuurs-Hoeijmakers
    Department of Human Genetics 855, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 91:1073-81. 2012
    ..We show that mutations in DDHD2 cause a specific complex HSP subtype (SPG54), thereby linking a member of the PLA(1) family to human neurologic disease...
  19. doi request reprint Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport
    Miski Mohamed
    Department of Pediatrics, Medizinische Hochschule Hannover, Germany
    Neurology 81:681-7. 2013
    ..To identify the underlying genetic defect in a patient with intellectual disability, seizures, ataxia, macrothrombocytopenia, renal and cardiac involvement, and abnormal protein glycosylation...
  20. doi request reprint Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease
    Manoe J Janssen
    Department of Gastroenterology and Hepatology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Hepatol 52:432-40. 2010
    ..In this review we will discuss the clinical-genetic features of PCLD and CDG as well as their biochemical pathways with the aim to identify novel directions of research into cystogenesis...
  21. pmc From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)
    Livia Kapusta
    Children s Heart Centre, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
    Heart Fail Rev 18:187-96. 2013
    ..Our paper is the first comprehensive study on the phenotype of DK1-CDG and the first successful organ transplantation in CDG syndrome...
  22. ncbi request reprint Removal of heparan sulfate from the glomerular basement membrane blocks protein passage
    Tessa J M Wijnhoven
    Department of Matrix Biochemistry, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Am Soc Nephrol 18:3119-27. 2007
    ..Taken together, these results suggest that HS keeps the GBM in an open state, facilitating passage of proteins through the glomerular capillary wall...