Research Topics
Genomes and Genes | Dirk J LefeberSummaryAffiliation: Radboud University Nijmegen Medical Centre Country: The Netherlands Publications
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Publications
Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groupsSuzan 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...
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathiesDirk 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...- Abnormal glycosylation with hypersialylated O-glycans in patients with SialuriaSuzan 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... 
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxaMailys 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...- A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermiaEva 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... - Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type IaGerben 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... - Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutationsEva 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... - Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylationDirk 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... - Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type IIMailys 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... - A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolismEva 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.... - Automated measurement of permethylated serum N-glycans by MALDI-linear ion trap mass spectrometryMailys 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... - Autosomal recessive cutis laxa syndrome revisitedEva 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... - Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycanTony 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... - Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type IMailys 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... - B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvementMailys 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... - Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencingSharita 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... - Congenital disorders of glycosylation in hepatology: the example of polycystic liver diseaseManoe 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... - Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegiaJanneke 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... - Removal of heparan sulfate from the glomerular basement membrane blocks protein passageTessa 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...