Lambert P van den Heuvel

Lambert P van den Heuvel

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Lambert P van den Heuvel

Publications by authors named "Lambert P van den Heuvel"

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Biosynthetic homeostasis and resilience of the complement system in health and infectious disease.

EBioMedicine 2019 Jul 29;45:303-313. Epub 2019 Jun 29.

Section Pediatric Infectious Diseases, Laboratory of Medical Immunology, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ebiom.2019.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642076PMC
July 2019

The genetics of atypical hemolytic uremic syndrome.

Med Genet 2018 21;30(4):400-409. Epub 2018 Dec 21.

2Cell Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s11825-018-0216-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6404389PMC
December 2018

A Novel Choroidal Endothelial Cell Line Has a Decreased Affinity for the Age-Related Macular Degeneration-Associated Complement Factor H Variant 402H.

Invest Ophthalmol Vis Sci 2018 02;59(2):722-730

Department of Nephrology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.IOVS-17-22893DOI Listing
February 2018

Complement Factor H Serum Levels Determine Resistance to Pneumococcal Invasive Disease.

J Infect Dis 2016 06 21;213(11):1820-7. Epub 2016 Jan 21.

Laboratory of Pediatric Infectious Diseases Division of Pediatric Infectious Diseases and Immunology, Department of Pediatrics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/infdis/jiw029DOI Listing
June 2016

Differential Expression of Specific Dermatan Sulfate Domains in Renal Pathology.

PLoS One 2015 31;10(9):e0134946. Epub 2015 Aug 31.

Nephrology Research Laboratory, Radboud Institute for Molecular Life Sciences, Department of Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0134946PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4556443PMC
May 2016

Development of a living membrane comprising a functional human renal proximal tubule cell monolayer on polyethersulfone polymeric membrane.

Acta Biomater 2015 Mar 17;14:22-32. Epub 2014 Dec 17.

Department of Biomaterials Science and Technology, MIRA Institute for Biomedical Technology and Technical Medicine, University of Twente, Enschede, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.actbio.2014.12.002DOI Listing
March 2015

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

Eur J Hum Genet 2015 Feb 30;23(2):202-9. Epub 2014 Apr 30.

Nijmegen Center for Mitochondrial Disorders (NCMD) at the Department of Pediatrics, Radboud University Medical Center (Radboudumc), Nijmegen, The Netherlands.

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http://www.nature.com/doifinder/10.1038/ejhg.2014.80
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http://dx.doi.org/10.1038/ejhg.2014.80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297908PMC
February 2015

Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.

Hum Mutat 2015 Jan 18;36(1):34-8. Epub 2014 Nov 18.

Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Medical Centre, GA Nijmegen, The Netherlands; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Duesseldorf, Duesseldorf, Germany.

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http://doi.wiley.com/10.1002/humu.22715
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http://dx.doi.org/10.1002/humu.22715DOI Listing
January 2015

Genetic testing for podocyte genes in sporadic focal segmental glomerulosclerosis.

Nephrol Dial Transplant 2014 Nov 21;29(11):1985-6. Epub 2014 Jul 21.

Department of Paediatric Nephrology, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands.

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http://dx.doi.org/10.1093/ndt/gfu247DOI Listing
November 2014

Compound heterozygous mutations in the C6 gene of a child with recurrent infections.

Mol Immunol 2014 Apr 30;58(2):201-5. Epub 2013 Dec 30.

Department of Pediatric Infectious Diseases & Immunology (HP 804), Radboud University Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands; Nijmegen Institute for Infection, Immunity and Inflammation (HP 804), Radboud University Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.molimm.2013.11.023DOI Listing
April 2014

Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling.

PLoS One 2013 23;8(7):e68340. Epub 2013 Jul 23.

Department of Laboratory Medicine, Laboratory of Genetic Endocrine and Metabolic Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0068340PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720734PMC
March 2014

Cationic uremic toxins affect human renal proximal tubule cell functioning through interaction with the organic cation transporter.

Pflugers Arch 2013 Dec 29;465(12):1701-14. Epub 2013 Jun 29.

Department of Pediatric Nephrology, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands.

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http://link.springer.com/10.1007/s00424-013-1307-z
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http://dx.doi.org/10.1007/s00424-013-1307-zDOI Listing
December 2013

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.

Brain 2013 May 18;136(Pt 5):1544-54. Epub 2013 Apr 18.

Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, Laboratory for Genetic, Endocrine, and Metabolic Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/brain/awt086DOI Listing
May 2013

A novel mutation in COQ2 leading to fatal infantile multisystem disease.

J Neurol Sci 2013 Mar 21;326(1-2):24-8. Epub 2013 Jan 21.

Laboratory of Clinical Chemistry and Hematology, St. Elisabeth Hospital, Tilburg, The Netherlands.

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http://dx.doi.org/10.1016/j.jns.2013.01.004DOI Listing
March 2013

The challenge of managing hemophilia A and STEC-induced hemolytic uremic syndrome.

Pediatr Nephrol 2013 Feb 23;28(2):349-52. Epub 2012 Sep 23.

Department of Pediatric Nephrology, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, the Netherlands.

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http://dx.doi.org/10.1007/s00467-012-2312-8DOI Listing
February 2013

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation.

J Inherit Metab Dis 2012 Nov 9;35(6):1059-69. Epub 2012 Mar 9.

Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Huispost 804, Geert Grooteplein 10, 6500, HB, PO BOX 9101, Nijmegen, The Netherlands.

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http://doi.wiley.com/10.1007/s10545-012-9465-2
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http://dx.doi.org/10.1007/s10545-012-9465-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3470685PMC
November 2012

Molecular base of biochemical complex I deficiency.

Mitochondrion 2012 Sep 20;12(5):520-32. Epub 2012 Jul 20.

Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.mito.2012.07.106DOI Listing
September 2012

A comprehensive full factorial LC-MS/MS proteomics benchmark data set.

Proteomics 2012 Aug;12(14):2276-81

Nijmegen Centre for Mitochondrial Disorders, Department of Laboratory Medicine, Laboratory of Genetic, Endocrine and Metabolic Diseases, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/pmic.201100284DOI Listing
August 2012

Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene.

J Hum Genet 2012 Jul 24;57(7):459-64. Epub 2012 May 24.

Department of Pediatric Nephrology, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/jhg.2012.57DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3407369PMC
July 2012

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology.

Mitochondrion 2011 Nov 14;11(6):954-63. Epub 2011 Sep 14.

Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Laboratory for Genetic, Endocrine, and Metabolic Disorders, Radboud University Nijmegen Medical Center, 6500 HB Nijmegen, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S15677249110027
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http://dx.doi.org/10.1016/j.mito.2011.08.012DOI Listing
November 2011

Mitochondrial dysfunction in muscle tissue of complex regional pain syndrome type I patients.

Eur J Pain 2011 Aug 22;15(7):708-15. Epub 2011 Jan 22.

Departments of Surgery, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejpain.2010.12.003DOI Listing
August 2011

Pinpointing biomarkers in proteomic LC/MS data by moving-window discriminant analysis.

Anal Chem 2011 Jul 9;83(13):5197-206. Epub 2011 Jun 9.

Radboud University Nijmegen, Institute for Molecules and Materials, Heyendaalseweg 135, 6525 AJ, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1021/ac200334sDOI Listing
July 2011

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.

Eur J Hum Genet 2011 Mar 8;19(3):270-4. Epub 2010 Dec 8.

Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2010.204DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3061993PMC
March 2011

Quantitative proteome profiling of respiratory virus-infected lung epithelial cells.

J Proteomics 2010 Aug 12;73(9):1680-93. Epub 2010 May 12.

Laboratory of Pediatric Infectious Diseases, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.jprot.2010.04.008DOI Listing
August 2010

Analysis of CTNS gene transcripts in nephropathic cystinosis.

Pediatr Nephrol 2010 Jul 30;25(7):1263-7. Epub 2010 Mar 30.

Department of Nephrology and Urology, Division of Nephrology, Bambino Gesù Children's Hospital and Research Institute, Piazza S. Onofrio, 4, 00165, Rome, Italy.

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http://dx.doi.org/10.1007/s00467-010-1502-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2874020PMC
July 2010

Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.

Mol Genet Metab 2010 Jul 21;100(3):251-6. Epub 2010 Mar 21.

Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2010.03.015DOI Listing
July 2010

Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.

Hum Mol Genet 2009 Sep 12;18(18):3365-74. Epub 2009 Jun 12.

Nijmegen Center for Mitochondrial Disorders at the Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddp276DOI Listing
September 2009

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

Hum Mutat 2009 Jul;30(7):E728-36

Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/humu.21037DOI Listing
July 2009

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.

Brain 2009 Jan 16;132(Pt 1):136-46. Epub 2008 Nov 16.

Department of Paediatrics, Nijmegen Center for Mitochondrial Disorders, Radbound University Medical Center Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/brain/awn296DOI Listing
January 2009

Mitochondrial energy production correlates with the age-related BMI.

Pediatr Res 2009 Jan;65(1):103-8

Department of Pediatrics, Radboud University Medical Center Nijmegen, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1203/PDR.0b013e31818d1c8aDOI Listing
January 2009

Microbial mito-pathogens: fact or fiction?

Med Hypotheses 2008 7;70(5):1051-3. Epub 2007 Sep 7.

Nijmegen University Centre of Infectious Diseases, Cluster Office CSS (633), Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.mehy.2007.06.036DOI Listing
July 2008

Proteomic profiling and identification in peritoneal fluid of children treated by peritoneal dialysis.

Nephrol Dial Transplant 2008 Jul 19;23(7):2402-5. Epub 2008 Apr 19.

Department of Paediatric Nephrology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/ndt/gfn212DOI Listing
July 2008

Microbial proteinase inside human cells as anti-mitochondrial activity: a new virulence factor in infectious diseases?

Med Hypotheses 2008 7;70(4):883-5. Epub 2007 Sep 7.

Nijmegen University Centre of Infectious Diseases, Cluster Office CSS (633), Radboud University Nijmegen Medical Centre, HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.mehy.2007.06.035DOI Listing
June 2008

NDUFA2 complex I mutation leads to Leigh disease.

Am J Hum Genet 2008 Jun;82(6):1306-15

Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Nijmegen Medical Center, Nijmegen 6500 HB, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2008.05.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427319PMC
June 2008

Identification and subcellular localization of a new cystinosin isoform.

Am J Physiol Renal Physiol 2008 May 12;294(5):F1101-8. Epub 2008 Mar 12.

Department of Nephrology and Urology, Division of Nephrology, Ospedale Bambino Gesù Children's Hospital and Research Insitute, Rome, Italy.

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http://ajprenal.physiology.org/content/ajprenal/294/5/F1101.
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http://ajprenal.physiology.org/cgi/doi/10.1152/ajprenal.0041
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http://dx.doi.org/10.1152/ajprenal.00413.2007DOI Listing
May 2008

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

Ann Neurol 2008 Apr;63(4):473-81

Department of Pediatrics and Laboratory of Pediatrics and Neurology, Nijmegen Centre for Mitochondrial Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ana.21328DOI Listing
April 2008

Characterization of anticoagulant heparinoids by immunoprofiling.

Glycoconj J 2008 Feb 2;25(2):177-85. Epub 2007 Oct 2.

Department of Matrix Biochemistry, Nijmegen Centre for Molecular Life Sciences, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10719-007-9070-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2234449PMC
February 2008

Removal of heparan sulfate from the glomerular basement membrane blocks protein passage.

J Am Soc Nephrol 2007 Dec 14;18(12):3119-27. Epub 2007 Nov 14.

Department of Matrix Biochemistry, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1681/ASN.2007020198DOI Listing
December 2007

Biomarker discovery with SELDI-TOF MS in human urine associated with early renal injury: evaluation with computational analytical tools.

Nephrol Dial Transplant 2007 Oct 5;22(10):2932-43. Epub 2007 Jul 5.

Department of Pharmacology and Toxicology (149), Nijmegen Centre for Molecular Life Sciences/Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, the Netherlands.

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http://dx.doi.org/10.1093/ndt/gfm170DOI Listing
October 2007

Reconstructing the evolution of the mitochondrial ribosomal proteome.

Nucleic Acids Res 2007 29;35(14):4686-703. Epub 2007 Jun 29.

Nijmegen Center for Mitochondrial Disorders, Radboud University Nijmegen Medical Center, Geert-Grooteplein-Zuid 10, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/nar/gkm441DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950548PMC
September 2007

Anti-proteinuric effects of glycosaminoglycan-based drugs.

Curr Opin Mol Ther 2007 Aug;9(4):364-77

Nijmegen Centre for Molecular Life Sciences, Department of Matrix Biochemistry and Nephrology Research Laboratory, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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August 2007

Expression of glomerular heparan sulphate domains in murine and human lupus nephritis.

Nephrol Dial Transplant 2007 Jul 5;22(7):1891-902. Epub 2007 Jun 5.

Nephrology Research Laboratory, Division of Nephrology, Department of Matrix Biochemistry, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Geert Grooteplein 26-28, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/ndt/gfm194DOI Listing
July 2007

Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients.

Mol Genet Metab 2007 Jun 26;91(2):176-82. Epub 2007 Mar 26.

Nijmegen Centre for Mitochondrial Disorders, Department of Paediatrics, Radboud University Nijmegen Medical Centre, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2007.02.007DOI Listing
June 2007

Heparan sulfate on activated glomerular endothelial cells and exogenous heparinoids influence the rolling and adhesion of leucocytes.

Nephrol Dial Transplant 2007 Apr 25;22(4):1070-7. Epub 2007 Jan 25.

Nephrology Research Laboratory and Division of Nephrology, Department of Matrix Biochemistry, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/ndt/gfl801DOI Listing
April 2007

Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts.

Clin Chem 2007 Apr 1;53(4):729-34. Epub 2007 Mar 1.

Department of Pediatrics and Laboratory of Pediatrics and Neurology, The Nijmegen Centre for Mitochondrial Disorders at Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1373/clinchem.2006.078873DOI Listing
April 2007

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.

Eur J Pediatr 2007 Mar 7;166(3):229-34. Epub 2006 Sep 7.

Nijmegen Centre for Mitochondrial Disorders, Departments of Pediatrics, Laboratory of Pediatrics and Neurology and Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s00431-006-0234-9DOI Listing
March 2007

Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits.

J Biol Chem 2007 Mar 5;282(10):7582-90. Epub 2007 Jan 5.

Nijmegen Centre for Mitochondrial Disorders, Department of Paediatrics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M609410200
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http://dx.doi.org/10.1074/jbc.M609410200DOI Listing
March 2007

In vivo degradation of heparan sulfates in the glomerular basement membrane does not result in proteinuria.

J Am Soc Nephrol 2007 Mar 24;18(3):823-32. Epub 2007 Jan 24.

Department of Matrix Biochemistry, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Molecular Life Sciences, Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1681/ASN.2006070692DOI Listing
March 2007

A proteomic investigation of glomerular podocytes from a Denys-Drash syndrome patient with a mutation in the Wilms tumour suppressor gene WT1.

Proteomics 2007 Mar;7(5):804-15

Bristol Genomics Research Institute, Centre for Research in Biomedicine, Faculty of Applied Sciences, University of the West of England, Bristol, UK.

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http://doi.wiley.com/10.1002/pmic.200600666
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http://dx.doi.org/10.1002/pmic.200600666DOI Listing
March 2007

Proteomics approaches to study genetic and metabolic disorders.

J Proteome Res 2007 Feb;6(2):506-12

Laboratory for Pediatrics and Neurology, Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Neuromuscular Center Nijmegen, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1021/pr060487wDOI Listing
February 2007

Proteomic inventory of "anchorless" proteins on the colon adenocarcinoma cell surface.

Biochim Biophys Acta 2006 Oct 12;1764(10):1607-17. Epub 2006 Sep 12.

Department of Clinical Chemistry, 441, Radboud University Nijmegen-Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.bbapap.2006.09.002DOI Listing
October 2006

Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.

Biochem J 2006 Aug;398(1):107-12

Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 150, D-69120 Heidelberg, Germany.

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http://dx.doi.org/10.1042/BJ20060221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1525008PMC
August 2006

Mitochondrial complex I: structure, function and pathology.

J Inherit Metab Dis 2006 Aug 11;29(4):499-515. Epub 2006 Jul 11.

Nijmegen Centre for Mitochondrial Disorders, Laboratory of Paediatrics and Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-006-0362-4DOI Listing
August 2006

Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology.

Clin Chem 2006 May 16;52(5):860-71. Epub 2006 Mar 16.

Department of Pediatrics and Laboratory of Pediatrics and Neurology, the Nijmegen Centre for Mitochondrial Disorders (NCMD), Nijmegen, The Netherlands.

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http://dx.doi.org/10.1373/clinchem.2005.062414DOI Listing
May 2006

Teaching molecular genetics: Chapter 3--Proteomics in nephrology.

Pediatr Nephrol 2006 May 30;21(5):611-8. Epub 2006 Mar 30.

Department of Pathology, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s00467-006-0064-zDOI Listing
May 2006

Serial isoelectric focusing as an effective and economic way to obtain maximal resolution and high-throughput in 2D-based comparative proteomics of scarce samples: proof-of-principle.

J Proteome Res 2005 Nov-Dec;4(6):2364-8

Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, Radboud University Nijmegen Medical Centre, The Netherlands.

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http://pubs.acs.org/doi/abs/10.1021/pr050231a
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http://dx.doi.org/10.1021/pr050231aDOI Listing
February 2006

Protein complexes in the archaeon Methanothermobacter thermautotrophicus analyzed by blue native/SDS-PAGE and mass spectrometry.

Mol Cell Proteomics 2005 Nov 21;4(11):1653-63. Epub 2005 Jul 21.

Nijmegen Center for Mitochondrial and Metabolic Disorders, Radboud University Nijmegen Medical Center, Geert Grooteplein 10, 6500 HB Nijmegen.

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http://dx.doi.org/10.1074/mcp.M500171-MCP200DOI Listing
November 2005

Optimized spectrophotometric assay for the completely activated pyruvate dehydrogenase complex in fibroblasts.

Clin Chem 2005 Jan 18;51(1):151-60. Epub 2004 Nov 18.

Division of Metabolic and Endocrine Diseases, University Children's Hospital Heidelberg, 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1373/clinchem.2004.033852DOI Listing
January 2005

Isolation and characterization of conditionally immortalized mouse glomerular endothelial cell lines.

Kidney Int 2004 Dec;66(6):2193-201

Division of Nephrology, Department of Pathology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1111/j.1523-1755.2004.66009.xDOI Listing
December 2004

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.

N Engl J Med 2004 Nov;351(20):2080-6

Nijmegen Center for Mitochondrial Disorders, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1056/NEJMoa041878DOI Listing
November 2004

Bcl-2 prevents loss of mitochondria in CCCP-induced apoptosis.

Exp Cell Res 2004 Oct;299(2):533-40

Central Hematology Laboratory, Department of Hematology, University Medical Center Nijmegen, Nijmegen 6500 HB, The Netherlands.

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http://dx.doi.org/10.1016/j.yexcr.2004.06.024DOI Listing
October 2004

Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.

Ann Neurol 2004 Oct;56(4):560-4

Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, University Medical Centre Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ana.20229DOI Listing
October 2004

Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.

Hum Mol Genet 2004 Mar 28;13(6):659-67. Epub 2004 Jan 28.

Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddh071DOI Listing
March 2004

Heparan sulfate proteoglycans in glomerular inflammation.

Kidney Int 2004 Mar;65(3):768-85

Nephrology Research Laboratory, Nijmegen Centre for Molecular Life Sciences, University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1111/j.1523-1755.2004.00451.xDOI Listing
March 2004

Genetic defects in the oxidative phosphorylation (OXPHOS) system.

Expert Rev Mol Diagn 2004 Mar;4(2):143-56

University Medical Center Nijmegen, NCMD, Department of Pediatrics, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1586/14737159.4.2.143DOI Listing
March 2004

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.

Ann Neurol 2003 Nov;54(5):665-9

Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://doi.wiley.com/10.1002/ana.10734
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http://dx.doi.org/10.1002/ana.10734DOI Listing
November 2003

Genetic renal disorders with hypomagnesemia and hypocalciuria.

J Nephrol 2003 Mar-Apr;16(2):293-6

Department of Human Genetics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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August 2003

Heparan sulphate proteoglycans in Alzheimer's disease and amyloid-related disorders.

Lancet Neurol 2003 Aug;2(8):482-92

Department of Pathology, University Medical Center, Nijmegen, Netherlands.

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http://dx.doi.org/10.1016/s1474-4422(03)00484-8DOI Listing
August 2003

A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency.

J Hum Genet 2003 ;48(1):8-13

Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Medical Centre Nijmegen, Geert Grooteplein 10, PO BOX 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s100380300001DOI Listing
July 2003

Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit.

Ann N Y Acad Sci 2003 Apr;986:437-43

Department of Human Genetics, Institute of Cellular Signaling, University Medical Center Nijmegen, the Netherlands.

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http://dx.doi.org/10.1111/j.1749-6632.2003.tb07226.xDOI Listing
April 2003

Exclusion of mutations in FXYD2, CLDN16 and SLC12A3 in two families with primary renal Mg2+ loss.

Nephrol Dial Transplant 2003 Mar;18(3):512-6

Department of Pediatrics, University Hospital Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/ndt/18.3.512DOI Listing
March 2003

New perspectives on the assembly process of mitochondrial respiratory chain complex cytochrome c oxidase.

Mitochondrion 2002 Nov;2(1-2):117-28

Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, University Medical Centre Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/s1567-7249(02)00012-0DOI Listing
November 2002

Genetic disorders of magnesium homeostasis.

Biometals 2002 Sep;15(3):297-307

Department of Pediatrics, University Hospital Nijmegen, The Netherlands.

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http://dx.doi.org/10.1023/a:1016039101747DOI Listing
September 2002

Bcl-2 protects against apoptosis induced by antimycin A and bongkrekic acid without restoring cellular ATP levels.

Biochim Biophys Acta 2002 Apr;1554(1-2):57-65

Central Hematology Laboratory/Department of Hematology, University Medical Center Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/s0005-2728(02)00213-xDOI Listing
April 2002