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Lambert van den Heuvel

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An I Jonckheere; Sander B Nabuurs; G Herma Renkema; Maaike Bras; Maaike C de Vries; Christian Gilissen; Alexander Hoischen; Martijn A Huynen; Jan A M Smeitink; Lambert P van den Heuvel; Richard J T Rodenburg
A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.
Bernadette S Jakobs; Maaike C de Vries; Steffen Hien; Thomas Schaible; Roel J P Smeets; Jan A M Smeitink; Lambert P van den Heuvel; Ron A Wevers; SB Wortmann; Richard J T Rodenburg
A novel mutation in COQ2 leading to fatal infantile multisystem disease.
Dineke Westra; Lambert P van den Heuvel; Auke Beishuizen; Paul P T Brons; Eiske M Dorresteijn; Nicole C A J van de Kar
The challenge of managing hemophilia A and STEC-induced hemolytic uremic syndrome.

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2013: An I Jonckheere; Sander B Nabuurs; G Herma Renkema; Maaike Bras; Maaike C de Vries; Christian Gilissen; Alexander Hoischen; Martijn A Huynen; Jan A M Smeitink; Lambert P van den Heuvel; Richard J T Rodenburg
A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.
Brain : a journal of neurology 2013;136(Pt 5):1544-54.
2013: Bernadette S Jakobs; Maaike C de Vries; Steffen Hien; Thomas Schaible; Roel J P Smeets; Jan A M Smeitink; Lambert P van den Heuvel; Ron A Wevers; SB Wortmann; Richard J T Rodenburg
A novel mutation in COQ2 leading to fatal infantile multisystem disease.
Journal of the neurological sciences 2013;326(1-2):24-8.
2013: Dineke Westra; Lambert P van den Heuvel; Auke Beishuizen; Paul P T Brons; Eiske M Dorresteijn; Nicole C A J van de Kar
The challenge of managing hemophilia A and STEC-induced hemolytic uremic syndrome.
Pediatric nephrology (Berlin, Germany) 2013;28(2):349-52.
2013: R J T Rodenburg; A Rötig; G C Schoonderwoerd; H J Smeets; R W Taylor; V Tiranti; L Valente; G P B M Backx; P F Chinnery; D Chretien; I F de Coo; L He; F Invernizzi; K J G M Janssen; Lambert P van den Heuvel
A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders.
Mitochondrion 2013;13(1):36-43.
2013: H A M Mutsaers; D Reijnders; E Schepers; Petra H H van den Broek; Lambert P van den Heuvel; R Vanholder; Martijn J G Wilmer; M Forkink; G Glorieux; J G Hoenderop; J Jansen; Rosalinde Masereeuw
Uremic toxins inhibit renal metabolic capacity through interference with glucuronidation and mitochondrial respiration.
Biochimica et biophysica acta 2013;1832(1):142-50.
2012: Rik Westland; W W M Hack; Erik J Kamsteeg; Lukas B Uittenbogaard; Lambert P van den Heuvel; Henricus J R van der Horst; Paul Van Der Valk; Johanna M van Hagen; Joanna A E van Wijk
Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation.
Clinical nephrology 2012;78(6):492-6.
2012: Saskia J G Hoefs; Richard J Rodenburg; Jan A M Smeitink; Lambert P van den Heuvel
Molecular base of biochemical complex I deficiency.
Mitochondrion 2012;12(5):520-32.
2012: Hans J C T Wessels; Tom G Bloemberg; Lutgarde M C Buydens; Maurice van Dael; Lambert P van den Heuvel; Ron Wehrens; Jolein Gloerich
A comprehensive full factorial LC-MS/MS proteomics benchmark data set.
Proteomics 2012;12(14):2276-81.
2012: Dineke Westra; Matthew C Pickering; Nicole C A J van de Kar; Katherine A Vernon; Elena B Volokhina; Lambert P van den Heuvel
Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene.
Journal of human genetics 2012;57(7):459-64.
2012: Murtada H Farhoud; Antoon J M Janssen; Edwin Lasonder; Leo G J Nijtmans; Richard R J Rodenburg; Lambert P van den Heuvel; Ronald J A Wanders; Hans J C T Wessels; Jan A M Smeitink
Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency.
Proteomics 2012;12(9):1349-62.
2012: D Westra; J F M Wetzels; Lambert P van den Heuvel; E B Volokhina; N C A J van de Kar
A new era in the diagnosis and treatment of atypical haemolytic uraemic syndrome.
The Netherlands journal of medicine 2012;70(3):121-9.
2012: Radek Szklarczyk; Mariël Am van den Brand; Lambert P van den Heuvel; Bas Fj Wanschers; Thomas D Cuypers; John J Esseling; Jolein Gloerich; Edwin Lasonder; Leo G J Nijtmans; Moniek Riemersma; Martijn A Huynen
Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase.
Genome biology 2012;13(2):R12.
2011: An I Jonckheere; Werner J H Koopman; Martin Lammens; Marleen Forkink; Jack A Fransen; Merei Huigsloot; Martijn A Huynen; Jitske Jansen; Jan A M Smeitink; Ute Spiekerkoetter; Radek Szklarczyk; Lambert P van den Heuvel; Jürgen-Christoph von Kleist-Retzow; Richard J T Rodenburg
Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology.
Mitochondrion 2011;11(6):954-63.
2011: Marjan J Smeulders; Anikó Udvarhelyi; Lambert P van den Heuvel; Hans J C T Wessels; Marcel H Zandvoort; Thomas R M Barends; John Hermans; Mike S.M. Jetten; Ahmad Fouad Khadem; Andreas Menzel; Arjan Pol; Lina Russ; Anna Scherer; Ilme Schlichting; Robert L Shoeman; Huub J M Op den Camp
Evolution of a new enzyme for carbon disulphide conversion by an acidothermophilic archaeon.
Nature 2011;478(7369):412-6.
2011: Edward C T Tan; Lambert P van den Heuvel; R Jan A Goris; Antoon J M Janssen; Peggy Roestenberg; Richard J T Rodenburg
Mitochondrial dysfunction in muscle tissue of complex regional pain syndrome type I patients.
European journal of pain (London, England) 2011;15(7):708-15.
2011: Tom G Bloemberg; L M C Buydens; Jolein Gloerich; Maurice van Dael; Lambert P van den Heuvel; Hans J C T Wessels; Ron Wehrens
Pinpointing biomarkers in proteomic LC/MS data by moving-window discriminant analysis.
Analytical chemistry 2011;83(13):5197-206.
2011: Martijn J G Wilmer; Leo A J Kluijtmans; Thea J van der Velden; Peter H G M Willems; Peter G Scheffer; Rosalinde Masereeuw; Leo A H Monnens; Lambert P van den Heuvel; Elena N Levtchenko
Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells.
Biochimica et biophysica acta 2011;1812(6):643-51.
2011: Paulien Smits; Ann Saada (Reisch); SB Wortmann; Angelien J Heister; Maaike Brink; Rolph Pfundt; Chaya Miller; Dorothea Haas; Ralph Hantschmann; Richard J T Rodenburg; Jan A M Smeitink; Lambert P van den Heuvel
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.
European journal of human genetics : EJHG 2011;19(4):394-9.
2011: Saskia J G Hoefs; Francjan J van Spronsen; Ellen W H Lenssen; Leo G J Nijtmans; Richard J T Rodenburg; Jan A M Smeitink; Lambert P van den Heuvel
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
European journal of human genetics : EJHG 2011;19(3):270-4.
2011: Paulien Smits; Hana Antonicka; Peter M van Hasselt; Woranontee Weraarpachai; Wolfram Haller; Marco W Schreurs; Hanka Venselaar; Richard J T Rodenburg; Jan A M Smeitink; Lambert P van den Heuvel
Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.
European journal of human genetics : EJHG 2011;19(3):275-9.
2011: Tjitske Kleefstra; SB Wortmann; Richard J T Rodenburg; Ernie M H F Bongers; Kinga Hadzsiev; C Noordam; Lambert P van den Heuvel; Willy M Nillesen; Katalin Hollody; Gabriele Gillessen-Kaesbach; Martin Lammens; Jan A M Smeitink; Ineke van der Burgt; Eva Morava
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.
European journal of human genetics : EJHG 2011;19(2):138-44.
2010: Angela van Diepen; H Kim Brand; Iziah Sama; Lambert H J Lambooy; Lambert P van den Heuvel; Leontine van der Well; Martijn Huynen; Albert D M E Osterhaus; Arno C Andeweg; Peter W M Hermans
Quantitative proteome profiling of respiratory virus-infected lung epithelial cells.
Journal of proteomics 2010;73(9):1680-93.
2010: Saskia J G Hoefs; Ola H Skjeldal; Richard J T Rodenburg; Bård Nedregaard; Edwin P M van Kaauwen; Ute Spiekerkötter; Jürgen-Christoph von Kleist-Retzow; Jan A M Smeitink; Leo G J Nijtmans; Lambert P van den Heuvel
Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.
Molecular genetics and metabolism 2010;100(3):251-6.
2010: Anna Taranta; Martijn J Wilmer; Lambert P van den Heuvel; Paola Bencivenga; Francesco Bellomo; Elena N Levtchenko; francesco emma
Analysis of CTNS gene transcripts in nephropathic cystinosis.
Pediatric nephrology (Berlin, Germany) 2010;25(7):1263-7.
2009: MM Löwik; Patricia J T A Groenen; Elena N Levtchenko; Leo A H Monnens; Lambert P van den Heuvel
Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review.
European journal of pediatrics 2009;168(11):1291-304.
2009: Rolf J R J Janssen; Felix Distelmaier; Roel Smeets; Tessa Wijnhoven; Elsebet Østergaard; Nicolaas G J Jaspers; Anja Raams; Stephan Kemp; Richard J T Rodenburg; Peter H G M Willems; Lambert P van den Heuvel; Jan A M Smeitink; Leo G J Nijtmans
Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.
Human molecular genetics 2009;18(18):3365-74.
2009: Saskia J G Hoefs; Cindy E J Dieteren; Richard J T Rodenburg; Karin Naess; Helene Bruhn; Rolf Wibom; Esther Wagena; Peter H Willems; Jan A M Smeitink; Leo G J Nijtmans; Lambert P van den Heuvel
Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.
Human mutation 2009;30(7):E728-36.
2009: Ann Saada (Reisch); Rutger O Vogel; Saskia J Hoefs; Mariël A van den Brand; Hans J Wessels; Peter H G M Willems; Hanka Venselaar; Avraham Shaag; Flora Barghuti; Orit Reish; Mordechai Shohat; Martijn A Huynen; Jan A M Smeitink; Lambert P van den Heuvel; Leo G J Nijtmans
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
American journal of human genetics 2009;84(6):718-27.
2009: SB Wortmann; Richard J T Rodenburg; An Jonckheere; Maaike C de Vries; Marjan Huizing; Katrin Heldt; Lambert P van den Heuvel; Udo Wendel; Leo A J Kluijtmans; Udo F Engelke; Ron A Wevers; Jan A M Smeitink; Eva Morava
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Brain : a journal of neurology 2009;132(Pt 1):136-46.
2008: Maaike C de Vries; G Christoph Korenke; M Lammens; Eva Morava; Richard J T Rodenburg; Lambert P van den Heuvel; Jan A M Smeitink
Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.
Journal of inherited metabolic disease 2008;31 Suppl 2():S299-302.
2008: Martijn J G Wilmer; Lambert P van den Heuvel; Richard J T Rodenburg; Rutger O Vogel; Leo G J Nijtmans; Leo A H Monnens; Elena N Levtchenko
Mitochondrial complex V expression and activity in cystinotic fibroblasts.
Pediatric research 2008;64(5):495-7.
2008: Martijn J G Wilmer; Lambert P van den Heuvel; Elena N Levtchenko
The use of CDME in cystinosis research.
Neurochemical research 2008;33(11):2373-4.
2008: Renske Raaijmakers; Wendy Pluk; Cornelis H Schröder; Jolein Gloerich; Elisabeth A M Cornelissen; Hans J C T Wessels; Johannes L Willems; Leo A H Monnens; Lambert P van den Heuvel
Proteomic profiling and identification in peritoneal fluid of children treated by peritoneal dialysis.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2008;23(7):2402-5.
2008: Saskia J G Hoefs; Cindy E J Dieteren; Felix Distelmaier; Rolf J R J Janssen; Andrea Epplen; Herman G P Swarts; Marleen Forkink; Richard J T Rodenburg; Leo G J Nijtmans; Peter H G M Willems; Jan A M Smeitink; Lambert P van den Heuvel
NDUFA2 complex I mutation leads to Leigh disease.
American journal of human genetics 2008;82(6):1306-15.
2008: Martijn J G Wilmer; Erik I Christensen; Lambert P van den Heuvel; Leo A H Monnens; Elena N Levtchenko
Urinary protein excretion pattern and renal expression of megalin and cubilin in nephropathic cystinosis.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2008;51(6):893-903.
2008: Anna Taranta; Stefania Petrini; Alessia Palma; Liliana Mannucci; Martijn J Wilmer; Veronica De Luca; Francesca Diomedi-Camassei; Serena Corallini; Francesco Bellomo; Lambert P van den Heuvel; Elena N Levtchenko; francesco emma
Identification and subcellular localization of a new cystinosin isoform.
American journal of physiology. Renal physiology 2008;294(5):F1101-8.
2008: Antoon J M Janssen; Markus Schuelke; Jan A M Smeitink; Frans J M Trijbels; Rob C A Sengers; Barbara Lucke; Liesbeth T M Wintjes; Eva Morava; B G M van Engelen; Bart W Smits; Frans A Hol; Marloes H Siers; Henk ter Laak; Marjo S van der Knaap; Francjan J van Spronsen; Richard J T Rodenburg; Lambert P van den Heuvel
Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.
Annals of neurology 2008;63(4):473-81.
2008: Mabel van den Hoven; Tessa J M Wijnhoven; J-P Li; E Zcharia; Henry B P M Dijkman; Ronnie G P Wismans; Angelique L W M M Rops; Joost Lensen; Lambert P van den Heuvel; Toin H van Kuppevelt; Israel Vlodavsky; Jo H M Berden; Johan Van der Vlag
Reduction of anionic sites in the glomerular basement membrane by heparanase does not lead to proteinuria.
Kidney international 2008;73(3):278-87.
2008: Tessa J M Wijnhoven; Els M A van de Westerlo; Nicole Smits; Joost Lensen; Angelique L W M M Rops; Johan Van der Vlag; Jo H M Berden; Lambert P van den Heuvel; Toin H van Kuppevelt
Characterization of anticoagulant heparinoids by immunoprofiling.
Glycoconjugate journal 2008;25(2):177-85.
2008: Angelique L W M M Rops; Mabel van den Hoven; M M Baselmans; Joost Lensen; Tessa J M Wijnhoven; Lambert P van den Heuvel; Toin H van Kuppevelt; Jo H M Berden; Johan Van der Vlag
Heparan sulfate domains on cultured activated glomerular endothelial cells mediate leukocyte trafficking.
Kidney international 2008;73(1):52-62.
2008: Ger P A Bongaerts; Lambert P van den Heuvel
Microbial mito-pathogens: fact or fiction?
Medical hypotheses 2008;70(5):1051-3.
2008: Ger P A Bongaerts; Lambert P van den Heuvel
Microbial proteinase inside human cells as anti-mitochondrial activity: a new virulence factor in infectious diseases?
Medical hypotheses 2008;70(4):883-5.
2007: Tessa J M Wijnhoven; Joost Lensen; Ronnie G P Wismans; Dirk J Lefeber; Angelique L W M M Rops; Johan Van der Vlag; Jo H M Berden; Lambert P van den Heuvel; Toin H van Kuppevelt
Removal of heparan sulfate from the glomerular basement membrane blocks protein passage.
Journal of the American Society of Nephrology : JASN 2007;18(12):3119-27.
2007: Angelique L W M M Rops; Martin Götte; M H Baselmans; Mabel van den Hoven; Eric J Steenbergen; Joost Lensen; Tessa J M Wijnhoven; F Cevikbas; Lambert P van den Heuvel; Toin H van Kuppevelt; Jo H M Berden; Johan Van der Vlag
Syndecan-1 deficiency aggravates anti-glomerular basement membrane nephritis.
Kidney international 2007;72(10):1204-15.
2007: MM Löwik; Patricia J T A Groenen; I Pronk; Marc R Lilien; roel goldschmeding; Henry B P M Dijkman; Elena N Levtchenko; Leo A H Monnens; Lambert P van den Heuvel
Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation.
Kidney international 2007;72(10):1198-203.
2007: Kurt J A Vanhoutte; Coby Laarakkers; Elena Marchiori; Peter Pickkers; Jack F M Wetzels; Johannes L Willems; Lambert P van den Heuvel; Frans G M Russel; Rosalinde Masereeuw
Biomarker discovery with SELDI-TOF MS in human urine associated with early renal injury: evaluation with computational analytical tools.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2007;22(10):2932-43.
2007: Tessa J M Wijnhoven; Joyce M Geelen; Marinka Bakker; Joost Lensen; Angelique L W M M Rops; Andrea B Kramer; gerjan navis; Mabel van den Hoven; Johan Van der Vlag; Jo H M Berden; Jack F M Wetzels; Lambert P van den Heuvel; Leo A H Monnens; Toin H van Kuppevelt
Adult and paediatric patients with minimal change nephrotic syndrome show no major alterations in glomerular expression of sulphated heparan sulphate domains.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2007;22(10):2886-93.
2007: Tessa J M Wijnhoven; Joost Lensen; Angelique L W M M Rops; Kevin J Mccarthy; Johan Van der Vlag; Jo H M Berden; Lambert P van den Heuvel; Toin H van Kuppevelt
Anti-proteinuric effects of glycosaminoglycan-based drugs.
Current opinion in molecular therapeutics 2007;9(4):364-77.
2007: Wouter M Tiel Groenestege; Stéphanie Thébault; Jenny van der Wijst; Dennis van den Berg; Rob Janssen; Sabine Tejpar; Lambert P van den Heuvel; Eric Van Cutsem; Joost G J Hoenderop; Nine V A M Knoers; René J M Bindels
Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia.
The Journal of clinical investigation 2007;117(8):2260-7.
2007: Martijn J G Wilmer; Peter H G M Willems; Sjoerd Verkaart; Henk-Jan Visch; Adriana de Graaf-Hess; Henk J Blom; Leo A H Monnens; Lambert P van den Heuvel; Elena N Levtchenko
Cystine dimethylester model of cystinosis: still reliable?
Pediatric research 2007;62(2):151-5.
2007: Joyce M Geelen; Thea J A M van der Velden; Lambert P van den Heuvel; Leo A H Monnens
Interactions of Shiga-like toxin with human peripheral blood monocytes.
Pediatric nephrology (Berlin, Germany) 2007;22(8):1181-7.
2007: Angelique L W M M Rops; Mabel van den Hoven; Marinka A H Bakker; Joost Lensen; Tessa J M Wijnhoven; Lambert P van den Heuvel; Toin H van Kuppevelt; Johan Van der Vlag; Jo H M Berden
Expression of glomerular heparan sulphate domains in murine and human lupus nephritis.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2007;22(7):1891-902.
2007: Rutger O Vogel; Mariël A M van den Brand; Richard J T Rodenburg; Lambert P van den Heuvel; Makoto Tsuneoka; Jan A M Smeitink; Leo G J Nijtmans
Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients.
Molecular genetics and metabolism 2007;91(2):176-82.
2007: Antoon J M Janssen; Frans J M Trijbels; Rob C A Sengers; Jan A M Smeitink; Lambert P van den Heuvel; Liesbeth T M Wintjes; Berendien J M Stoltenborg-Hogenkamp; Richard J T Rodenburg
Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts.
Clinical chemistry 2007;53(4):729-34.
2007: Angelique L W M M Rops; Cor W Jacobs; Peter C Linssen; Jan B M Boezeman; Joost Lensen; Tessa J M Wijnhoven; Lambert P van den Heuvel; Toin H van Kuppevelt; Johan Van der Vlag; Jo H M Berden
Heparan sulfate on activated glomerular endothelial cells and exogenous heparinoids influence the rolling and adhesion of leucocytes.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2007;22(4):1070-7.
2007: Rutger O Vogel; Cindy E J Dieteren; Lambert P van den Heuvel; Peter H G M Willems; Jan A M Smeitink; Werner J H Koopman; Leo G J Nijtmans
Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits.
The Journal of biological chemistry 2007;282(10):7582-90.
2007: Rutger O Vogel; Rolf J R J Janssen; Mariël A M van den Brand; Cindy E J Dieteren; Sjoerd Verkaart; Werner J H Koopman; Peter H G M Willems; Wendy Pluk; Lambert P van den Heuvel; Jan A M Smeitink; Leo G J Nijtmans
Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly.
Genes & development 2007;21(5):615-24.
2007: Rebecca L Viney; Avril Morrison; Lambert P van den Heuvel; Lan Ni; Peter W Mathieson; Moin A Saleem; Michael R Ladomery
A proteomic investigation of glomerular podocytes from a Denys-Drash syndrome patient with a mutation in the Wilms tumour suppressor gene WT1.
Proteomics 2007;7(5):804-15.
2007: Tessa J M Wijnhoven; Joost Lensen; Ronnie G P Wismans; Mohammed Lamrani; Leo A H Monnens; Ron A Wevers; Angelique L W M M Rops; Johan Van der Vlag; Jo H M Berden; Lambert P van den Heuvel; Toin H van Kuppevelt
In vivo degradation of heparan sulfates in the glomerular basement membrane does not result in proteinuria.
Journal of the American Society of Nephrology : JASN 2007;18(3):823-32.
2007: Joyce M Geelen; Thea J A M van der Velden; D Maroeska W M te Loo; Otto Boerman; Lambert P van den Heuvel; Leo A H Monnens
Lack of specific binding of Shiga-like toxin (verocytotoxin) and non-specific interaction of Shiga-like toxin 2 antibody with human polymorphonuclear leucocytes.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2007;22(3):749-55.
2007: Maaike C de Vries; Richard J T Rodenburg; Eva Morava; Edwin P M van Kaauwen; Henk ter Laak; Reinier A Mullaart; Irina N Snoeck; Peter M van Hasselt; Peter Harding; Lambert P van den Heuvel; Jan A M Smeitink
Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.
European journal of pediatrics 2007;166(3):229-34.
2007: Jolein Gloerich; Ron A Wevers; Jan A M Smeitink; B G M van Engelen; Lambert P van den Heuvel
Proteomics approaches to study genetic and metabolic disorders.
Journal of proteome research 2007;6(2):506-12.
2007: Joyce M Geelen; Ina S Klasen; Lambert P van den Heuvel; Leo A H Monnens
[From gene to disease; the haemolytic uraemic syndrome can be caused by mutations in regulating factors of the alternative route of the complement system].
Nederlands tijdschrift voor geneeskunde 2007;151(3):185-8.
2007: Paulien Smits; Jan A M Smeitink; Lambert P van den Heuvel; Martijn A Huynen; Thijs J G Ettema
Reconstructing the evolution of the mitochondrial ribosomal proteome.
Nucleic acids research 2007;35(14):4686-703.
2006: Harold Tjalsma; Wendy Pluk; Lambert P van den Heuvel; Wilbert H M Peters; Rian W Roelofs; Dorine W Swinkels
Proteomic inventory of "anchorless" proteins on the colon adenocarcinoma cell surface.
Biochimica et biophysica acta 2006;1764(10):1607-17.
2006: Joost Lensen; Tessa J M Wijnhoven; Leon H Kuik; Elly M M Versteeg; Theo Hafmans; Angelique L W M M Rops; M S G Pavao; Johan Van der Vlag; Lambert P van den Heuvel; Jo H M Berden; Toin H van Kuppevelt
Selection and characterization of a unique phage display-derived antibody against dermatan sulfate.
Matrix biology : journal of the International Society for Matrix Biology 2006;25(7):457-61.
2006: Marina A Schwab; Sven W Sauer; Jürgen G Okun; Leo G J Nijtmans; Richard J T Rodenburg; Lambert P van den Heuvel; Stefan Dröse; Ulrich Brandt; Georg F Hoffmann; Henk ter Laak; Stefan Kölker; Jan A M Smeitink
Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.
The Biochemical journal 2006;398(1):107-12.
2006: Tessa J M Wijnhoven; Joost Lensen; Angelique L W M M Rops; Johan Van der Vlag; Svein Olav Kolset; Hans-Jacob Bangstad; Per Pfeffer; Mabel van den Hoven; Jo H M Berden; Lambert P van den Heuvel; Toin H van Kuppevelt
Aberrant heparan sulfate profile in the human diabetic kidney offers new clues for therapeutic glycomimetics.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2006;48(2):250-61.
2006: Rolf J R J Janssen; Leo G J Nijtmans; Lambert P van den Heuvel; Jan A M Smeitink
Mitochondrial complex I: structure, function and pathology.
Journal of inherited metabolic disease 2006;29(4):499-515.
2006: J A P Hiel; B G M van Engelen; Corry M R Weemaes; Annegien Broeks; Aad Verrips; Henk ter Laak; H M Vingerhoets; Lambert P van den Heuvel; Martin Lammens; Fons J M Gabreëls; J I Last; A M R Taylor
Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia.
Neurology 2006;67(2):346-9.
2006: Marieke Coenen; Jan A M Smeitink; Jeanette M Pots; Edwin van Kaauwen; Frans J M Trijbels; Frans A Hol; Lambert P van den Heuvel
Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations.
Journal of child neurology 2006;21(6):508-11.
2006: Patricia J T A Groenen; Lambert P van den Heuvel
Teaching molecular genetics: Chapter 3--Proteomics in nephrology.
Pediatric nephrology (Berlin, Germany) 2006;21(5):611-8.
2006: Antoon J M Janssen; Frans J M Trijbels; Rob C A Sengers; Liesbeth T M Wintjes; Wim Ruitenbeek; Jan A M Smeitink; Eva Morava; B G M van Engelen; Lambert P van den Heuvel; Richard J T Rodenburg
Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology.
Clinical chemistry 2006;52(5):860-71.
2006: Marieke Coenen; Jan A M Smeitink; Murtada H Farhoud; Leo G J Nijtmans; Richard J T Rodenburg; Antoon Janssen; E P M van Kaauwen; Frans J M Trijbels; Lambert P van den Heuvel
The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report.
Journal of inherited metabolic disease 2006;29(1):212-3.
2006: Elena N Levtchenko; Martijn J G Wilmer; Antoon J M Janssen; Jan B Koenderink; Henk-Jan Visch; Peter H G M Willems; Adriana de Graaf-Hess; Henk J Blom; Lambert P van den Heuvel; Leo A H Monnens
Decreased intracellular ATP content and intact mitochondrial energy generating capacity in human cystinotic fibroblasts.
Pediatric research 2006;59(2):287-92.
2006: Elena N Levtchenko; Carin M van Dael; Adriana de Graaf-Hess; Martijn J G Wilmer; Lambert P van den Heuvel; Leo A H Monnens; Henk J Blom
Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis.
Pediatric nephrology (Berlin, Germany) 2006;21(1):110-3.
2005: Martijn J G Wilmer; Adriana de Graaf-Hess; Henk J Blom; Henry B P M Dijkman; Leo A H Monnens; Lambert P van den Heuvel; Elena N Levtchenko
Elevated oxidized glutathione in cystinotic proximal tubular epithelial cells.
Biochemical and biophysical research communications 2005;337(2):610-4.
2005: Murtada H Farhoud; Hans J C T Wessels; Ron A Wevers; B G M van Engelen; Lambert P van den Heuvel; Jan A M Smeitink
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.
Journal of proteome research 2005;4(6):2364-8.
2005: Murtada H Farhoud; Hans J C T Wessels; Peter J M Steenbakkers; Sandy Mattijssen; Ron A Wevers; B G M van Engelen; Mike S.M. Jetten; Jan A M Smeitink; Lambert P van den Heuvel; Jan T Keltjens
Protein complexes in the archaeon Methanothermobacter thermautotrophicus analyzed by blue native/SDS-PAGE and mass spectrometry.
Molecular & cellular proteomics : MCP 2005;4(11):1653-63.
2005: Rutger O Vogel; Rolf J R J Janssen; Cristina Ugalde; Melissa Grovenstein; Richard Huijbens; Henk-Jan Visch; Lambert P van den Heuvel; Peter H G M Willems; Massimo Zeviani; Jan A M Smeitink; Leo G J Nijtmans
Human mitochondrial complex I assembly is mediated by NDUFAF1.
The FEBS journal 2005;272(20):5317-26.
2005: MM Löwik; F W P J van den Berkmortel; C Noordam; Henk W van Hamersvelt; Lambert P van den Heuvel; Elena N Levtchenko
[A genetic childhood disease with consequences in adult life: the Denys-Drash syndrome].
Nederlands tijdschrift voor geneeskunde 2005;149(31):1751-5.
2005: Eva Morava; A Dinopoulos; H Y Kroes; Richard J T Rodenburg; Hans van Bokhoven; Lambert P van den Heuvel; Jan A M Smeitink
Mitochondrial dysfunction in a patient with Joubert syndrome.
Neuropediatrics 2005;36(3):214-7.
2005: H L M van Straaten; J P van Tintelen; J M F Trijbels; Lambert P van den Heuvel; D Troost; J M Rozemuller; M Duran; L S de Vries; M Schuelke; P G Barth
Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption.
Neuropediatrics 2005;36(3):193-9.
2005: Joost Lensen; Angelique L W M M Rops; Tessa J M Wijnhoven; Theo Hafmans; W F J Feitz; Egbert Oosterwijk; Bernhard Banas; René J M Bindels; Lambert P van den Heuvel; Johan Van der Vlag; Jo H M Berden; Toin H van Kuppevelt
Localization and functional characterization of glycosaminoglycan domains in the normal human kidney as revealed by phage display-derived single chain antibodies.
Journal of the American Society of Nephrology : JASN 2005;16(5):1279-88.
2005: MM Löwik; Frans A Hol; Eric J Steenbergen; Jack F M Wetzels; Lambert P van den Heuvel
Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2005;20(2):336-41.
2005: Marieke Coenen; Jan A M Smeitink; Roel Smeets; Frans J M Trijbels; Lambert P van den Heuvel
Mutation detection in four candidate genes (OXA1L, MRS2L, YME1L and MIPEP) for combined deficiencies in the oxidative phosphorylation system.
Journal of inherited metabolic disease 2005;28(6):1091-7.
2005: Marina A Schwab; Stefan Kölker; Lambert P van den Heuvel; Sven W Sauer; Nicole I Wolf; Dietz Rating; Georg F Hoffmann; Jan A M Smeitink; Jürgen G Okun
Optimized spectrophotometric assay for the completely activated pyruvate dehydrogenase complex in fibroblasts.
Clinical chemistry 2005;51(1):151-60.
2004: Angelique L W M M Rops; Johan Van der Vlag; Cor W Jacobs; Henry B P M Dijkman; Joost Lensen; Tessa J M Wijnhoven; Lambert P van den Heuvel; Toin H van Kuppevelt; Jo H M Berden
Isolation and characterization of conditionally immortalized mouse glomerular endothelial cell lines.
Kidney international 2004;66(6):2193-201.
2004: Marieke Coenen; Hana Antonicka; Cristina Ugalde; Florin Sasarman; Rainer Rossi; J G A M Angelien Heister; Robert F Newbold; Frans J M Trijbels; Lambert P van den Heuvel; Eric A Shoubridge; Jan A M Smeitink
Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.
The New England journal of medicine 2004;351(20):2080-6.
2004: Marieke Coenen; Lambert P van den Heuvel; Cristina Ugalde; Marike Ten Brinke; Leo G J Nijtmans; Frans J M Trijbels; Skadi Beblo; Esther M Maier; Ania C Muntau; Jan A M Smeitink
Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.
Annals of neurology 2004;56(4):560-4.
2004: Aniek O de Graaf; Lambert P van den Heuvel; Henry B P M Dijkman; Ronney A De Abreu; Kim U Birkenkamp; Theo de Witte; Bert A van der Reijden; Jan A M Smeitink; Joop H Jansen
Bcl-2 prevents loss of mitochondria in CCCP-induced apoptosis.
Experimental cell research 2004;299(2):533-40.
2004: Henk-Jan Visch; Guy A Rutter; Werner J H Koopman; Jan B Koenderink; Sjoerd Verkaart; Theun de Groot; Aniko Varadi; Kathryn J Mitchell; Lambert P van den Heuvel; Jan A M Smeitink; Peter H G M Willems
Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency.
The Journal of biological chemistry 2004;279(39):40328-36.
2004: Lambert P van den Heuvel; Jan A M Smeitink; Richard J T Rodenburg
Biochemical examination of fibroblasts in the diagnosis and research of oxidative phosphorylation (OXPHOS) defects.
Mitochondrion 2004;4(5-6):395-401.
2004: Joke C De Jong; Peter H G M Willems; Monique Goossens; Alain Vandewalle; Lambert P van den Heuvel; Nine V A M Knoers; René J M Bindels
Effects of chemical chaperones on partially retarded NaCl cotransporter mutants associated with Gitelman's syndrome in a mouse cortical collecting duct cell line.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2004;19(5):1069-76.
2004: Cristina Ugalde; Rolf J R J Janssen; Lambert P van den Heuvel; Jan A M Smeitink; Leo G J Nijtmans
Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.
Human molecular genetics 2004;13(6):659-67.
2004: Elena N Levtchenko; Martijn J G Wilmer; Adriana de Graaf-Hess; Lambert P van den Heuvel; Henk Blom; Leo A H Monnens
[From gene to disease: cystinosis].
Nederlands tijdschrift voor geneeskunde 2004;148(10):476-8.
2004: Rolf J R J Janssen; Lambert P van den Heuvel; Jan A M Smeitink
Genetic defects in the oxidative phosphorylation (OXPHOS) system.
Expert review of molecular diagnostics 2004;4(2):143-56.
2004: Angelique L W M M Rops; Johan Van der Vlag; Joost Lensen; Tessa J M Wijnhoven; Lambert P van den Heuvel; Toin H van Kuppevelt; Jo H M Berden
Heparan sulfate proteoglycans in glomerular inflammation.
Kidney international 2004;65(3):768-85.
2003: Rikke Schiphorst; Nicole C A J van de Kar; Lambert P van den Heuvel
[From gene to disease; congenital thrombotic thrombocytopenic purpura due to mutations in the ADAMTS13 gene].
Nederlands tijdschrift voor geneeskunde 2003;147(49):2422-4.
2003: Patrick Starremans; Ferry F J Kersten; Lambert P van den Heuvel; Nine V A M Knoers; René J M Bindels
Dimeric architecture of the human bumetanide-sensitive Na-K-Cl Co-transporter.
Journal of the American Society of Nephrology : JASN 2003;14(12):3039-46.
2003: Salvatore Scacco; Vittoria Petruzzella; S M S Budde; Rosaria Vergari; Rosanna Tamborra; Damiano Panelli; Lambert P van den Heuvel; Jan A M Smeitink; Sergio Papa
Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex.
The Journal of biological chemistry 2003;278(45):44161-7.
2003: Cristina Ugalde; Ralf H Triepels; Marieke Coenen; Lambert P van den Heuvel; Roel Smeets; Johanna Uusimaa; Paz Briones; Jaume Campistol; Kari Majamaa; Jan A M Smeitink; Leo G J Nijtmans
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
Annals of neurology 2003;54(5):665-9.
2003: Joke C De Jong; Peter H G M Willems; Lambert P van den Heuvel; Nine V A M Knoers; René J M Bindels
Functional expression of the human thiazide-sensitive NaCl cotransporter in Madin-Darby canine kidney cells.
Journal of the American Society of Nephrology : JASN 2003;14(10):2428-35.
2003: Martin Lammens; J A P Hiel; Fons J M Gabreëls; B G M van Engelen; Lambert P van den Heuvel; Corry M R Weemaes
Nijmegen breakage syndrome: a neuropathological study.
Neuropediatrics 2003;34(4):189-93.
2003: Jack van Horssen; Pieter Wesseling; Lambert P van den Heuvel; Robert M W de Waal; Marcel M Verbeek
Heparan sulphate proteoglycans in Alzheimer's disease and amyloid-related disorders.
Lancet neurology 2003;2(8):482-92.
2003: Joke C De Jong; Peter H G M Willems; Fieke J M Mooren; Lambert P van den Heuvel; Nine V A M Knoers; René J M Bindels
The structural unit of the thiazide-sensitive NaCl cotransporter is a homodimer.
The Journal of biological chemistry 2003;278(27):24302-7.
2003: Nicole I Wolf; Angelika Seitz; Inga Harting; Jan A M Smeitink; F Trijbels; Lambert P van den Heuvel; H Schlemmer; Friedrich Ebinger; W Evert; Dietz Rating
New pattern of brain MRI lesions in isolated complex I deficiency.
Neuropediatrics 2003;34(3):156-9.
2003: Patrick Starremans; Ferry F J Kersten; Nine V A M Knoers; Lambert P van den Heuvel; René J M Bindels
Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters.
Journal of the American Society of Nephrology : JASN 2003;14(6):1419-26.
2003: Iwan C Meij; Jan B Koenderink; Joke C De Jong; Jan Joep H H M de Pont; Leo A H Monnens; Lambert P van den Heuvel; Nine V A M Knoers
Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit.
Annals of the New York Academy of Sciences 2003;986():437-43.
2003: Nine V A M Knoers; Joke C De Jong; Iwan C Meij; Lambert P van den Heuvel; René J M Bindels
Genetic renal disorders with hypomagnesemia and hypocalciuria.
Journal of nephrology 2003;16(2):293-6.
2003: Iwan C Meij; Lambert P van den Heuvel; Sies Hemmes; Walter A Van Der Vliet; Johannes L Willems; Leo A H Monnens; Nine V A M Knoers
Exclusion of mutations in FXYD2, CLDN16 and SLC12A3 in two families with primary renal Mg2+ loss.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2003;18(3):512-6.
2003: F H van der Westhuizen; Lambert P van den Heuvel; Roel Smeets; Joris Veltman; Rolph Pfundt; Ad Geurts van Kessel; B M Ursing; Jan A M Smeitink
Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray.
Neuropediatrics 2003;34(1):14-22.
2003: MM Löwik; Elena N Levtchenko; Leo A H Monnens; Lambert P van den Heuvel
WT-1 and NPHS2 mutation analysis in patients with non-familial steroid-resistant focal-segmental glomerulosclerosis.
Clinical nephrology 2003;59(2):143-6.
2003: Lambert H J Lambooy; C E M Gidding; Lambert P van den Heuvel; Christina A Hulsbergen-van de Kaa; M J L Ligtenberg; Jos P M Bökkerink; Ronney A De Abreu
Real-time analysis of tyrosine hydroxylase gene expression: a sensitive and semiquantitative marker for minimal residual disease detection of neuroblastoma.
Clinical cancer research : an official journal of the American Association for Cancer Research 2003;9(2):812-9.
2003: S M S Budde; Lambert P van den Heuvel; Roel Smeets; Daniela Skladal; J A Mayr; Carolien A Boelen; V Petruzzella; Sergio Papa; Jan A M Smeitink
Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.
Journal of inherited metabolic disease 2003;26(8):813-5.
2003: Roel Smeets; Jan A M Smeitink; Ben A Semmekrot; Hans R Scholte; Ronald J A Wanders; Lambert P van den Heuvel
A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency.
Journal of human genetics 2003;48(1):8-13.
2003: Lambert P van den Heuvel; Murtada H Farhoud; Ron A Wevers; B G M van Engelen; Jan A M Smeitink
Proteomics and neuromuscular diseases: theoretical concept and first results.
Annals of clinical biochemistry 2003;40(Pt 1):9-15.
2003: Antoon J M Janssen; Jan A M Smeitink; Lambert P van den Heuvel
Some practical aspects of providing a diagnostic service for respiratory chain defects.
Annals of clinical biochemistry 2003;40(Pt 1):3-8.
2002: Lambert P van den Heuvel; Karin Assink; M Willemsen; Leo Monnens
Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2).
Human genetics 2002;111(6):544-7.
2002: Cristina Ugalde; Marieke Coenen; Murtada H Farhoud; Stefanie Gilinsky; Werner J H Koopman; Lambert P van den Heuvel; Jan A M Smeitink; Leo G J Nijtmans
New perspectives on the assembly process of mitochondrial respiratory chain complex cytochrome c oxidase.
Mitochondrion 2002;2(1-2):117-28.
2002: S M S Budde; Lambert P van den Heuvel; Jan A M Smeitink
The human complex I NDUFS4 subunit: from gene structure to function and pathology.
Mitochondrion 2002;2(1-2):109-15.
2002: Iwan C Meij; Lambert P van den Heuvel; Nine V A M Knoers
Genetic disorders of magnesium homeostasis.
Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine 2002;15(3):297-307.
2002: Eric Z Jordens; Luigi Palmieri; Marjan Huizing; Lambert P van den Heuvel; Rob C A Sengers; Andrea Dörner; Wim Ruitenbeek; Frans J M Trijbels; Jullius Valsson; Gunnlaugur Sigfusson; Ferdinando Palmieri; Jan A M Smeitink
Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome.
Annals of neurology 2002;52(1):95-9.
2002: Jack van Horssen; Johanneke Kleinnijenhuis; Cathy Maass; Annemieke A M Rensink; Irene Otte-Höller; Guido David; Lambert P van den Heuvel; Pieter Wesseling; Robert M W de Waal; Marcel M Verbeek
Accumulation of heparan sulfate proteoglycans in cerebellar senile plaques.
Neurobiology of aging 2002;23(4):537-45.
2002: Joke C De Jong; Walter A Van Der Vliet; Lambert P van den Heuvel; Peter H G M Willems; Nine V A M Knoers; René J M Bindels
Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome.
Journal of the American Society of Nephrology : JASN 2002;13(6):1442-8.
2002: Femke de Loos; Karin M L C Huijben; Nicole C A J van der Kar; Leo A H Monnens; Lambert P van den Heuvel; Johanna E M Groener; Ronald A de Moor; Ron A Wevers
Hemolytic uremic syndrome attributable to Streptococcus pneumoniae infection: a novel cause for secondary protein N-glycan abnormalities.
Clinical chemistry 2002;48(5):781-4.
2002: Aniek O de Graaf; Jules P P Meijerink; Lambert P van den Heuvel; Ronney A DeAbreu; Theo de Witte; Joop H Jansen; Jan A M Smeitink
Bcl-2 protects against apoptosis induced by antimycin A and bongkrekic acid without restoring cellular ATP levels.
Biochimica et biophysica acta 2002;1554(1-2):57-65.
2002: Patrick Starremans; Annemiete W C M van der Kemp; Nine V A M Knoers; Lambert P van den Heuvel; René J M Bindels
Functional implications of mutations in the human renal outer medullary potassium channel (ROMK2) identified in Bartter syndrome.
Pflügers Archiv : European journal of physiology 2002;443(3):466-72.
2001: Jack van Horssen; Irene Otte-Höller; Guido David; Marion L C Maat-Schieman; Lambert P van den Heuvel; Pieter Wesseling; Robert M W de Waal; Marcel M Verbeek
Heparan sulfate proteoglycan expression in cerebrovascular amyloid beta deposits in Alzheimer's disease and hereditary cerebral hemorrhage with amyloidosis (Dutch) brains.
Acta neuropathologica 2001;102(6):604-14.
2001: B G M van Engelen; J A P Hiel; Fons J M Gabreëls; Lambert P van den Heuvel; Dik C van Gent; Corry M R Weemaes
Decreased immunoglobulin class switching in Nijmegen Breakage syndrome due to the DNA repair defect.
Human immunology 2001;62(12):1324-7.
2001: Marieke Coenen; Lambert P van den Heuvel; Jan A M Smeitink
Mitochondrial oxidative phosphorylation system assembly in man: recent achievements.
Current opinion in neurology 2001;14(6):777-81.
2001: L E Niers; Jan A M Smeitink; J M F Trijbels; Rob C A Sengers; Antoon J M Janssen; Lambert P van den Heuvel
Prenatal diagnosis of NADH:ubiquinone oxidoreductase deficiency.
Prenatal diagnosis 2001;21(10):871-80.
2001: D Maroeska W M te Loo; Annet E Heuvelink; Enne de Boer; J Nauta; J van der Walle; C Schröder; Victor Van Hinsbergh; H Chart; NC van de Kar; Lambert P van den Heuvel
Vero cytotoxin binding to polymorphonuclear leukocytes among households with children with hemolytic uremic syndrome.
The Journal of infectious diseases 2001;184(4):446-50.
2001: E J Okhuijsen-Kroes; J M F Trijbels; Rob C A Sengers; Edwin C M Mariman; Lambert P van den Heuvel; Udo Wendel; G Koch; Jan A M Smeitink
Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation.
Neuropediatrics 2001;32(4):183-90.
2001: J A P Hiel; Corry M R Weemaes; B G M van Engelen; Dominique Smeets; M J L Ligtenberg; Ineke van der Burgt; Lambert P van den Heuvel; Karen M Cerosaletti; Fons J M Gabreëls; Patrick Concannon
Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1.
Journal of medical genetics 2001;38(6):E19.
2001: D Maroeska W M te Loo; Victor Van Hinsbergh; Lambert P van den Heuvel; Leo A H Monnens
Detection of verocytotoxin bound to circulating polymorphonuclear leukocytes of patients with hemolytic uremic syndrome.
Journal of the American Society of Nephrology : JASN 2001;12(4):800-6.
2001: A H Pijpers; PA van Setten; Lambert P van den Heuvel; Karel J M Assmann; Henry B P M Dijkman; A H Pennings; Leo A H Monnens; Victor Van Hinsbergh
Verocytotoxin-induced apoptosis of human microvascular endothelial cells.
Journal of the American Society of Nephrology : JASN 2001;12(4):767-78.
2001: Ralf H Triepels; Bonnie J Hanson; Lambert P van den Heuvel; L Sundell; Michael F Marusich; Jan A M Smeitink; Roderick A Capaldi
Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns.
The Journal of biological chemistry 2001;276(12):8892-7.
2001: D Maroeska W M te Loo; Leo A H Monnens; Lambert P van den Heuvel; M C Gubler; M M Kockx
Detection of apoptosis in kidney biopsies of patients with D+ hemolytic uremic syndrome.
Pediatric research 2001;49(3):413-6.
2001: Ralf H Triepels; Lambert P van den Heuvel; J M F Trijbels; Jan A M Smeitink
Respiratory chain complex I deficiency.
American journal of medical genetics 2001;106(1):37-45.
2001: Benito A Yard; S Kahlert; R Engelleiter; S Resch; Rüdiger Waldherr; Sander Groffen; Lambert P van den Heuvel; J van der Born; Jo H M Berden; S Kröger; M Hafner; Fokko J van der Woude
Decreased glomerular expression of agrin in diabetic nephropathy and podocytes, cultured in high glucose medium.
Experimental nephrology 2001;9(3):214-22.
2000: JF de Rijk-van Andel; Fons J M Gabreëls; B Geurtz; Gerry C H Steenbergen-Spanjers; Lambert P van den Heuvel; Jan A M Smeitink; Ron A Wevers
L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency.
Neurology 2000;55(12):1926-8.
2000: Jan A M Smeitink; Rob C A Sengers; Frans J M Trijbels; Lambert P van den Heuvel
Nuclear genes and oxidative phosphorylation disorders: a review.
European journal of pediatrics 2000;159 Suppl 3():S227-31.
2000: Iwan C Meij; Jan B Koenderink; Hans van Bokhoven; Karin Assink; W T Groenestege; Jan Joep H H M de Pont; René J M Bindels; Leo A H Monnens; Lambert P van den Heuvel; Nine V A M Knoers
Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit.
Nature genetics 2000;26(3):265-6.
2000: Rolf J R J Janssen; Ron A Wevers; Martin Häussler; JA Luyten; Gerry C H Steenbergen-Spanjers; Georg F Hoffmann; Toshiharu Nagatsu; Lambert P van den Heuvel
A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder.
Annals of human genetics 2000;64(Pt 5):375-82.
2000: S M S Budde; Lambert P van den Heuvel; Antoon J M Janssen; Roel Smeets; CA Buskens; L DeMeirleir; Rudy Van Coster; M Baethmann; Thomas Voit; J M F Trijbels; Jan A M Smeitink
Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene.
Biochemical and biophysical research communications 2000;275(1):63-8.
2000: D Maroeska W M te Loo; E Levtchenko; M Furlan; G P Roosendaal; Lambert P van den Heuvel
Autosomal recessive inheritance of von Willebrand factor-cleaving protease deficiency.
Pediatric nephrology (Berlin, Germany) 2000;14(8-9):762-5.
2000: Martin Konrad; Martin Vollmer; HH Lemmink; Lambert P van den Heuvel; Nikola Jeck; Rosa Vargas-Poussou; A Lakings; Rainer G Ruf; Georges Deschênes; Corinne Antignac; Lisa M Guay-Woodford; Nine V A M Knoers; Hannsjörg W Seyberth; D Feldmann; Friedhelm Hildebrandt
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.
Journal of the American Society of Nephrology : JASN 2000;11(8):1449-59.
2000: Dominik Müller; Joost G J Hoenderop; Iwan C Meij; Lambert P van den Heuvel; Nine V A M Knoers; Anneke I den Hollander; Paul Eggert; Víctor García-Nieto; Félix Claverie-Martín; René J M Bindels
Molecular cloning, tissue distribution, and chromosomal mapping of the human epithelial Ca2+ channel (ECAC1).
Genomics 2000;67(1):48-53.
2000: Martin Vollmer; Nikola Jeck; HH Lemmink; R Vargas; D Feldmann; Martin Konrad; Frank Beekmann; Lambert P van den Heuvel; G Deschenes; Lisa M Guay-Woodford; Corinne Antignac; Hannsjörg W Seyberth; Friedhelm Hildebrandt; Nine V A M Knoers
Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2000;15(7):970-4.
2000: D Maroeska W M te Loo; Leo A H Monnens; Thea J A M van der Velden; Mario Vermeer; F Preyers; P N Demacker; Lambert P van den Heuvel; Victor Van Hinsbergh
Binding and transfer of verocytotoxin by polymorphonuclear leukocytes in hemolytic uremic syndrome.
Blood 2000;95(11):3396-402.
2000: Aad Verrips; Lies Hoefsloot; G C H Steenbergen; J P Theelen; Ron A Wevers; Fons J M Gabreëls; B G M van Engelen; Lambert P van den Heuvel
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.
Brain : a journal of neurology 2000;123 ( Pt 5)():908-19.
2000: Aad Verrips; B G M van Engelen; Ron A Wevers; B M van Geel; J R Cruysberg; Lambert P van den Heuvel; A Keyser; Fons J M Gabreëls
Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis.
Archives of neurology 2000;57(4):520-4.
2000: Iwan C Meij; Lambert P van den Heuvel; Nine V A M Knoers
Inherited hypomagnesemia.
Advances in nephrology from the Necker Hospital 2000;30():163-76.
2000: M Estela Rubio-Gozalbo; K P Dijkman; Lambert P van den Heuvel; Rob C A Sengers; Udo Wendel; Jan A M Smeitink
Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations.
Human mutation 2000;15(6):522-32.
2000: J L C M Loeffen; Jan A M Smeitink; J M F Trijbels; Antoon J M Janssen; Ralf H Triepels; Rob C A Sengers; Lambert P van den Heuvel
Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.
Human mutation 2000;15(2):123-34.
1999: Marcel M Verbeek; Irene Otte-Höller; J van den Born; Lambert P van den Heuvel; G David; Pieter Wesseling; Robert M W de Waal
Agrin is a major heparan sulfate proteoglycan accumulating in Alzheimer's disease brain.
The American journal of pathology 1999;155(6):2115-25.
1999: Christa Bräutigam; Gerry C H Steenbergen-Spanjers; Georg F Hoffmann; Carlo Dionisi Vici; Lambert P van den Heuvel; Jan A M Smeitink; Ron A Wevers
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.
Clinical chemistry 1999;45(12):2073-8.
1999: Marieke Coenen; Lambert P van den Heuvel; Leo G J Nijtmans; Eva Morava; I Marquardt; Hermann J Girschick; Frans J M Trijbels; Les Grivell; Jan A M Smeitink
SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.
Biochemical and biophysical research communications 1999;265(2):339-44.
1999: Sander Groffen; Jacques H Veerkamp; Leo A H Monnens; Lambert P van den Heuvel
Recent insights into the structure and functions of heparan sulfate proteoglycans in the human glomerular basement membrane.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 1999;14(9):2119-29.
1999: Aad Verrips; G J Nijeholt; Frederik Barkhof; B G M van Engelen; P Wesseling; JA Luyten; Ron A Wevers; J Stam; J H J Wokke; Lambert P van den Heuvel; A Keyser; Fons J M Gabreëls
Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis.
Brain : a journal of neurology 1999;122 ( Pt 8)():1589-95.
1999: Ron A Wevers; JF de Rijk-van Andel; Christa Bräutigam; B Geurtz; Lambert P van den Heuvel; Gerry C H Steenbergen-Spanjers; Jan A M Smeitink; Georg F Hoffmann; Fons J M Gabreëls
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).
Journal of inherited metabolic disease 1999;22(4):364-73.
1999: Ralf H Triepels; Lambert P van den Heuvel; J L C M Loeffen; CA Buskens; Roel Smeets; M Estela Rubio-Gozalbo; S M S Budde; Edwin C M Mariman; F A Wijburg; P G Barth; J M F Trijbels; Jan A M Smeitink
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.
Annals of neurology 1999;45(6):787-90.
1999: Iwan C Meij; K Saar; Lambert P van den Heuvel; G Nuernberg; M Vollmer; Friedhelm Hildebrandt; A Reis; Leo A H Monnens; Nine V A M Knoers
Hereditary isolated renal magnesium loss maps to chromosome 11q23.
American journal of human genetics 1999;64(1):180-8.
1998: J L C M Loeffen; Ralf H Triepels; Lambert P van den Heuvel; M Schuelke; CA Buskens; Roel Smeets; J M F Trijbels; Jan A M Smeitink
cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.
Biochemical and biophysical research communications 1998;253(2):415-22.
1998: HH Lemmink; Nine V A M Knoers; L Károlyi; H van Dijk; P Niaudet; Corinne Antignac; Lisa M Guay-Woodford; P R Goodyer; J C Carel; A Hermes; Hannsjörg W Seyberth; Leo A H Monnens; Lambert P van den Heuvel
Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.
Kidney international 1998;54(3):720-30.
1998: CJ Raats; Marinka A H Bakker; W Hoch; W P M Tamboer; Sander Groffen; Lambert P van den Heuvel; Jo H M Berden; Jacob Van Den Born
Differential expression of agrin in renal basement membranes as revealed by domain-specific antibodies.
The Journal of biological chemistry 1998;273(28):17832-8.
1998: Harriëtte T F M Verzijl; B G M van Engelen; JA Luyten; G C H Steenbergen; Lambert P van den Heuvel; H J ter Laak; George W Padberg; Ron A Wevers
Genetic characteristics of myoadenylate deaminase deficiency.
Annals of neurology 1998;44(1):140-3.
1998: Marjan Huizing; Wim Ruitenbeek; Lambert P van den Heuvel; V Dolce; Vito Iacobazzi; Jan A M Smeitink; Ferdinando Palmieri; J M F Trijbels
Human mitochondrial transmembrane metabolite carriers: tissue distribution and its implication for mitochondrial disorders.
Journal of bioenergetics and biomembranes 1998;30(3):277-84.
1998: Lambert P van den Heuvel; B Luiten; Jan A M Smeitink; JF de Rijk-van Andel; K Hyland; Gerry C H Steenbergen-Spanjers; Rolf J R J Janssen; Ron A Wevers
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.
Human genetics 1998;102(6):644-6.
1998: Marjan Huizing; Udo Wendel; Wim Ruitenbeek; Vito Iacobazzi; Lodewijk IJlst; P Veenhuizen; P Savelkoul; Lambert P van den Heuvel; Jan A M Smeitink; R J Wanders; J M F Trijbels; Ferdinando Palmieri
Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient.
Journal of inherited metabolic disease 1998;21(3):262-7.
1998: PA van Setten; Victor Van Hinsbergh; Lambert P van den Heuvel; F Preyers; Henry B P M Dijkman; Karel J M Assmann; Thea J A M van der Velden; Leo A H Monnens
Monocyte chemoattractant protein-1 and interleukin-8 levels in urine and serum of patents with hemolytic uremic syndrome.
Pediatric research 1998;43(6):759-67.
1998: Rosa Vargas-Poussou; D Feldmann; Martin Vollmer; Martin Konrad; L Kelly; Lambert P van den Heuvel; L Tebourbi; Matthias Brandis; L Karolyi; S C Hebert; HH Lemmink; Georges Deschênes; Friedhelm Hildebrandt; Hannsjörg W Seyberth; Lisa M Guay-Woodford; Nine V A M Knoers; Corinne Antignac
Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.
American journal of human genetics 1998;62(6):1332-40.
1998: Sander Groffen; C A Buskens; Toin H van Kuppevelt; Jacques H Veerkamp; Leo A H Monnens; Lambert P van den Heuvel
Primary structure and high expression of human agrin in basement membranes of adult lung and kidney.
European journal of biochemistry / FEBS 1998;254(1):123-8.
1998: Leo A J Kluijtmans; Udo Wendel; E M Stevens; Lambert P van den Heuvel; Frans J M Trijbels; Henk J Blom
Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency.
European journal of human genetics : EJHG 1998;6(3):257-65.
1998: N M J van der Put; Fons J M Gabreëls; E M Stevens; Jan A M Smeitink; Frans J M Trijbels; Tom K A B Eskes; Lambert P van den Heuvel; Henk J Blom
A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?
American journal of human genetics 1998;62(5):1044-51.
1998: Eric Girardin; Béatrice Birmele; N Benador; T Neuhaus; G Hosseini; Lambert P van den Heuvel; Ariane I de Agostini
Effect of plasma from patients with idiopathic nephrotic syndrome on proteoglycan synthesis by human and rat glomerular cells.
Pediatric research 1998;43(4 Pt 1):489-95.
1998: Lambert H J Lambooy; PA Leegwater; Lambert P van den Heuvel; Jos P M Bökkerink; Ronney A De Abreu
Inhibition of DNA methylation in malignant MOLT F4 lymphoblasts by 6-mercaptopurine.
Clinical chemistry 1998;44(3):556-9.
1998: M J van Belzen; J A P Hiel; Corry M R Weemaes; Fons J M Gabreëls; B G M van Engelen; Dominique Smeets; Lambert P van den Heuvel
A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.
Human genetics 1998;102(2):187-91.
1998: Jan A M Smeitink; J L C M Loeffen; Ralf H Triepels; Roel Smeets; J M F Trijbels; Lambert P van den Heuvel
Nuclear genes of human complex I of the mitochondrial electron transport chain: state of the art.
Human molecular genetics 1998;7(10):1573-9.
1998: Sander Groffen; M A Ruegg; Henry B P M Dijkman; T J van de Velden; C A Buskens; Jacob Van Den Born; Karel J M Assmann; Leo A H Monnens; Jacques H Veerkamp; Lambert P van den Heuvel
Agrin is a major heparan sulfate proteoglycan in the human glomerular basement membrane.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 1998;46(1):19-27.
1997: PA van Setten; Victor Van Hinsbergh; Lambert P van den Heuvel; Thea J A M van der Velden; NC van de Kar; R J Krebbers; M A Karmali; Leo A H Monnens
Verocytotoxin inhibits mitogenesis and protein synthesis in purified human glomerular mesangial cells without affecting cell viability: evidence for two distinct mechanisms.
Journal of the American Society of Nephrology : JASN 1997;8(12):1877-88.
1997: Leo A J Kluijtmans; J J Kastelein; Jan Lindemans; Godfried H J Boers; Sandra G Heil; A V Bruschke; J W Jukema; Lambert P van den Heuvel; Frans J M Trijbels; G J Boerma; F W Verheugt; F Willems; Henk J Blom
Thermolabile methylenetetrahydrofolate reductase in coronary artery disease.
Circulation 1997;96(8):2573-7.
1997: Leo A J Kluijtmans; Godfried H J Boers; Frans J M Trijbels; H M van Lith-Zanders; Lambert P van den Heuvel; Henk J Blom
A common 844INS68 insertion variant in the cystathionine beta-synthase gene.
Biochemical and molecular medicine 1997;62(1):23-5.
1997: Aad Verrips; Gerry C H Steenbergen-Spanjers; JA Luyten; Ron A Wevers; J H J Wokke; Fons J M Gabreëls; B G Wolthers; Lambert P van den Heuvel
Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis.
Human genetics 1997;100(2):284-6.
1997: Sander Groffen; F W Hop; K Tryggvason; Henry B P M Dijkman; Karel J M Assmann; Jacques H Veerkamp; Leo A H Monnens; Lambert P van den Heuvel
Evidence for the existence of multiple heparan sulfate proteoglycans in the human glomerular basement membrane and mesangial matrix.
European journal of biochemistry / FEBS 1997;247(1):175-82.
1997: PA van Setten; Victor Van Hinsbergh; Thea J A M van der Velden; NC van de Kar; Mario Vermeer; J D Mahan; Karel J M Assmann; Lambert P van den Heuvel; Leo A H Monnens
Effects of TNF alpha on verocytotoxin cytotoxicity in purified human glomerular microvascular endothelial cells.
Kidney international 1997;51(4):1245-56.