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Lambert van Den Heuvel

Research Profile

Chemicals & Drugs

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Molecular Sequence Data

Anatomy

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Infants

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TOP 3
SB Wortmann; H Barth; Michael P Champion; Kate Craig; Martin Lammens; Richard J T Rodenburg; Michiel F Schreuder; Jan A M Smeitink; Robert W Taylor; B Trutnau; Lambert van Den Heuvel; Ron A Wevers; Eva Morava
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?
Sharita Timal; Lambert van Den Heuvel; Francjan J van Spronsen; Joris Veltman; Ron A Wevers; Ludwig Lehle; Eva Morava; Justyna Paprocka; Richard J Rodenburg; Jolanta Sykut-Cegielska; Christian Thiel; Maciej Adamowicz; Ilse Eidhof; Christian Gilissen; Alexander Hoischen; Karin M L C Huijben; Ewa Jamroz; Christian Körner; Dirk J Lefeber
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Elena Volokhina; Dineke Westra; Xiaoguang Xue; Piet Gros; Nicole C A J van de Kar; Lambert van Den Heuvel
Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H binding.

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All Publications

2012: SB Wortmann; H Barth; Michael P Champion; Kate Craig; Martin Lammens; Richard J T Rodenburg; Michiel F Schreuder; Jan A M Smeitink; Robert W Taylor; B Trutnau; Lambert van Den Heuvel; Ron A Wevers; Eva Morava
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?
European journal of medical genetics 2012;55(10):552-6.
2012: Sharita Timal; Lambert van Den Heuvel; Francjan J van Spronsen; Joris Veltman; Ron A Wevers; Ludwig Lehle; Eva Morava; Justyna Paprocka; Richard J Rodenburg; Jolanta Sykut-Cegielska; Christian Thiel; Maciej Adamowicz; Ilse Eidhof; Christian Gilissen; Alexander Hoischen; Karin M L C Huijben; Ewa Jamroz; Christian Körner; Dirk J Lefeber
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Human molecular genetics 2012;21(19):4151-61.
2012: Elena Volokhina; Dineke Westra; Xiaoguang Xue; Piet Gros; Nicole C A J van de Kar; Lambert van Den Heuvel
Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H binding.
Pediatric nephrology (Berlin, Germany) 2012;27(9):1519-24.
2012: Diana M Iglesias; Elena Levtchenko; Anna Taranta; Jaan Toelen; Lambert van Den Heuvel; Yoon Kow Young; Jing Zhao; Francesco Bellomo; Martine Besouw; Leelee Chu; Nicoletta Eliopoulos; Reyhan El-Kares; Francesco Emma; Paul Goodyer
Stem cell microvesicles transfer cystinosin to human cystinotic cells and reduce cystine accumulation in vitro.
PloS one 2012;7(8):e42840.
2011: Maïlys Guillard; Olaf Bodamer; Arjan de Brouwer; Jorg de Ruijter; Eva Morava; Johann Penzien; Tony Roscioli; Lambert van Den Heuvel; Ron A Wevers; Michel A Willemsen; Dirk J Lefeber
B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement.
The Journal of pediatrics 2011;159(6):1041-3.e2.
2011: Bart Smits; Lambert van Den Heuvel; Gijs Bleijenberg; George Borm; Antoon Janssen; Hans Knoop; Benno Küsters; Richard J T Rodenburg; Baziel van Engelen
Mitochondrial enzymes discriminate between mitochondrial disorders and chronic fatigue syndrome.
Mitochondrion 2011;11(5):735-8.
2010: Jessica Nouws; Leo G J Nijtmans; Sander M Houten; Mariël van den Brand; Martijn A Huynen; Hanka Venselaar; Saskia Hoefs; Jolein Gloerich; Jonathan Kronick; Timothy Hutchin; Peter Willems; Richard J T Rodenburg; Ronald Wanders; Lambert van Den Heuvel; Jan A M Smeitink; Rutger O Vogel
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.
Cell metabolism 2010;12(3):283-94.
2010: Paulien Smits; Sandy Mattijssen; Eva Morava; Mariël van den Brand; Frans van den Brandt; Frits Wijburg; Ger Pruijn; jan smeitink; Leo Nijtmans; Richard J T Rodenburg; Lambert van Den Heuvel
Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.
European journal of human genetics : EJHG 2010;18(3):324-9.
2010: Paulien Smits; jan smeitink; Lambert van Den Heuvel
Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies.
Journal of biomedicine & biotechnology 2010;2010():737385.
2009: Hans J C T Wessels; Rutger O Vogel; Lambert van Den Heuvel; Jan A M Smeitink; Richard J T Rodenburg; Leo G J Nijtmans; Murtada H Farhoud
LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of protein complexes.
Proteomics 2009;9(17):4221-8.
2009: Dirk J Lefeber; Johannes Schönberger; Eva Morava; Mailys Guillard; Karin M Huyben; Kiek Verrijp; Olga Grafakou; Athanasios Evangeliou; Frank W Preijers; Panagiota Manta; Jef Yildiz; Stephanie Grünewald; Martha Spilioti; Christa van den Elzen; Dominique Klein; daniel Hess; Hisashi Ashida; Jan Hofsteenge; Yusuke Maeda; Lambert van Den Heuvel; Martin Lammens; Ludwig Lehle; Ron A Wevers
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
American journal of human genetics 2009;85(1):76-86.
2008: Joyce M Geelen; Federica Valsecchi; Thea J A M van der Velden; Lambert van Den Heuvel; Leo Monnens; Marina Morigi
Shiga-toxin-induced firm adhesion of human leukocytes to endothelium is in part mediated by heparan sulfate.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2008;23(10):3091-5.
2007: Eva Morava; Ernie M H F Bongers; Wolfram Kress; Lilian Sie; Richard J T Rodenburg; Lambert van Den Heuvel; Han G Brunner
Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome.
Clinical dysmorphology 2007;16(2):131-4.
2007: Joyce M Geelen; Koen van den Dries; Anja Roos; Nicole C A J van de Kar; Corrie de Kat Angelino; Ina S Klasen; Leo Monnens; Lambert van Den Heuvel
A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome.
Pediatric nephrology (Berlin, Germany) 2007;22(3):371-5.
2006: M Warnier; Winfried Römer; Joyce M Geelen; J Lesieur; Mohamed Amessou; Lambert van Den Heuvel; Leo Monnens; Ludger Johannes
Trafficking of Shiga toxin/Shiga-like toxin-1 in human glomerular microvascular endothelial cells and human mesangial cells.
Kidney international 2006;70(12):2085-91.
2006: D Maroeska W M te Loo; Leo Monnens; Thea J A M van der Velden; Mohammed Karmali; Lambert van Den Heuvel; Victor Van Hinsbergh
Shiga toxin-1 affects nitric oxide production by human glomerular endothelial and mesangial cells.
Pediatric nephrology (Berlin, Germany) 2006;21(12):1815-23.
2006: Eva Morava; Lambert van Den Heuvel; Frans A Hol; Maaike C de Vries; Marije Hogeveen; Richard J T Rodenburg; Jan A M Smeitink
Mitochondrial disease criteria: diagnostic applications in children.
Neurology 2006;67(10):1823-6.
2006: Andrea Kramer; Mabel van den Hoven; Angelique L W M M Rops; Tessa J M Wijnhoven; Lambert van Den Heuvel; Joost Lensen; Toin H van Kuppevelt; Harry van Goor; Johan Van der Vlag; gerjan navis; Jo H M Berden
Induction of glomerular heparanase expression in rats with adriamycin nephropathy is regulated by reactive oxygen species and the renin-angiotensin system.
Journal of the American Society of Nephrology : JASN 2006;17(9):2513-20.
2006: Marjolein Willemsen; Richard J T Rodenburg; Alexandra Teszas; Lambert van Den Heuvel; Gyorgy Kosztolanyi; Eva Morava
Females with PDHA1 gene mutations: a diagnostic challenge.
Mitochondrion 2006;6(3):155-9.
2006: Eva Morava; Richard J T Rodenburg; Frans A Hol; Maaike de Vries; Antoon Janssen; Lambert van Den Heuvel; Leo G J Nijtmans; jan smeitink
Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations.
American journal of medical genetics. Part A 2006;140(8):863-8.
2006: Wouter M Tiel Groenestege; Joost G J Hoenderop; Lambert van Den Heuvel; Nine V A M Knoers; René J M Bindels
The epithelial Mg2+ channel transient receptor potential melastatin 6 is regulated by dietary Mg2+ content and estrogens.
Journal of the American Society of Nephrology : JASN 2006;17(4):1035-43.
2006: Eva Morava; Richard J T Rodenburg; Frans A Hol; Linda De Meirleir; Sara Seneca; Rebekka Busch; Lambert van Den Heuvel; jan smeitink
Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome.
American journal of medical genetics. Part A 2006;140(7):752-6.
2005: Elena N Levtchenko; Adriana de Graaf-Hess; Martijn J G Wilmer; Lambert van Den Heuvel; Leo Monnens; Henk Blom
Altered status of glutathione and its metabolites in cystinotic cells.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2005;20(9):1828-32.
2004: Elena N Levtchenko; Adriana de Graaf-Hess; Martijn J G Wilmer; Lambert van Den Heuvel; Leo Monnens; Henk Blom
Comparison of cystine determination in mixed leukocytes vs polymorphonuclear leukocytes for diagnosis of cystinosis and monitoring of cysteamine therapy.
Clinical chemistry 2004;50(9):1686-8.
2004: Eva Morava; Rob C A Sengers; Henk ter Laak; Lambert van Den Heuvel; Antoon Janssen; Frans J M Trijbels; Hans Cruysberg; Carolien A Boelen; jan smeitink
Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.
European journal of pediatrics 2004;163(8):467-71.
2004: D Maroeska Te Loo; Nienke Bosma; Victor Van Hinsbergh; Paul Span; Robert M W de Waal; Ruud Clarijs; C Sweep; Leo Monnens; Lambert van Den Heuvel
Elevated levels of vascular endothelial growth factor in serum of patients with D+ HUS.
Pediatric nephrology (Berlin, Germany) 2004;19(7):754-60.
2004: Rutger Vogel; Leo G J Nijtmans; Cristina Ugalde; Lambert van Den Heuvel; jan smeitink
Complex I assembly: a puzzling problem.
Current opinion in neurology 2004;17(2):179-86.
2003: Elena N Levtchenko; Henk Blom; Martijn J G Wilmer; Lambert van Den Heuvel; Leo Monnens
ACE inhibitorenalapril diminishes albuminuria in patients with cystinosis.
Clinical nephrology 2003;60(6):386-9.
2003: Olga Grafakou; Konrad Oexle; Lambert van Den Heuvel; Roel Smeets; Frans J M Trijbels; Hans H Goebel; Nils U Bosshard; andrea superti-furga; Beat Steinmann; jan smeitink
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.
European journal of pediatrics 2003;162(10):714-8.
2003: Karin Assink; Rikke Schiphorst; Sarah Allford; Diana Karpman; Amos Etzioni; Bénédicte Brichard; Nicole C A J van de Kar; Leo Monnens; Lambert van Den Heuvel
Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency.
Kidney international 2003;63(6):1995-9.
2003: L Niers; Lambert van Den Heuvel; Frans J M Trijbels; Rob C A Sengers; jan smeitink
Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi.
Journal of inherited metabolic disease 2003;26(7):647-58.
2002: Maroeska te Loo; Thea J A M van der Velden; Wes Onland; Lambert van Den Heuvel; Leo Monnens
Anticardiolipin antibodies in D+ hemolytic uremic syndrome.
Pediatric nephrology (Berlin, Germany) 2002;17(12):1042-6.
2002: Markus Schuelke; Anne Detjen; Lambert van Den Heuvel; Christoph Korenke; Antoon Janssen; Arie Smits; Frans J M Trijbels; jan smeitink
New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods.
Clinical chemistry 2002;48(5):772-5.
2002: Rolf Janssen; jan smeitink; Roel Smeets; Lambert van Den Heuvel
CIA30 complex I assembly factor: a candidate for human complex I deficiency?
Human genetics 2002;110(3):264-70.
2001: jan smeitink; Rob C A Sengers; Frans J M Trijbels; Lambert van Den Heuvel
Human NADH:ubiquinone oxidoreductase.
Journal of bioenergetics and biomembranes 2001;33(3):259-66.
2001: Lambert van Den Heuvel; jan smeitink
The oxidative phosphorylation (OXPHOS) system: nuclear genes and human genetic diseases.
BioEssays : news and reviews in molecular, cellular and developmental biology 2001;23(6):518-25.
2001: jan smeitink; Lambert van Den Heuvel; S DiMauro
The genetics and pathology of oxidative phosphorylation.
Nature reviews. Genetics 2001;2(5):342-52.
2001: Sergio Papa; Salvatore Scacco; Anna Maria Sardanelli; Rosaria Vergari; Francesco Papa; S M S Budde; Lambert van Den Heuvel; jan smeitink
Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome.
FEBS letters 2001;489(2-3):259-62.
2001: J L C M Loeffen; Orly Elpeleg; jan smeitink; Roel Smeets; Sylvia Stöckler-Ipsiroglu; H Mandel; Rob C A Sengers; Frans J M Trijbels; Lambert van Den Heuvel
Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.
Annals of neurology 2001;49(2):195-201.
2001: Lambert van Den Heuvel; K Op de Koul; E Knots; Nine V A M Knoers; Leo Monnens
Autosomal recessive hypophosphataemic rickets with hypercalciuria is not caused by mutations in the type II renal sodium/phosphate cotransporter gene.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2001;16(1):48-51.
2000: Ralf H Triepels; jan smeitink; J L C M Loeffen; Roel Smeets; Frans J M Trijbels; Lambert van Den Heuvel
Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients.
Human genetics 2000;106(4):385-91.
1999: jan smeitink; Lambert van Den Heuvel
Human mitochondrial complex I in health and disease.
American journal of human genetics 1999;64(6):1505-10.
1999: Ralf H Triepels; jan smeitink; J L C M Loeffen; Roel Smeets; CA Buskens; Frans J M Trijbels; Lambert van Den Heuvel
The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology.
Journal of inherited metabolic disease 1999;22(2):163-73.
1999: Markus Schuelke; jan smeitink; Edwin C M Mariman; J L C M Loeffen; Barbara Plecko; Frans J M Trijbels; Sylvia Stöckler-Ipsiroglu; Lambert van Den Heuvel
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.
Nature genetics 1999;21(3):260-1.
1999: J L C M Loeffen; Roel Smeets; jan smeitink; Ralf H Triepels; Rob C A Sengers; Frans J M Trijbels; Lambert van Den Heuvel
The human NADH: ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients.
Journal of inherited metabolic disease 1999;22(1):19-28.
1998: J L C M Loeffen; jan smeitink; Ralf H Triepels; Roel Smeets; Markus Schuelke; Rob C A Sengers; Frans J M Trijbels; Ben Hamel; Reinier A Mullaart; Lambert van Den Heuvel
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.
American journal of human genetics 1998;63(6):1598-608.
1998: Ralf H Triepels; Lambert van Den Heuvel; J L C M Loeffen; Roel Smeets; Frans J M Trijbels; jan smeitink
The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients.
Human genetics 1998;103(5):557-63.
1998: jan smeitink; J L C M Loeffen; Roel Smeets; Ralf H Triepels; Wim Ruitenbeek; Frans J M Trijbels; Lambert van Den Heuvel
Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I.
Human genetics 1998;103(2):245-50.
1998: J L C M Loeffen; Lambert van Den Heuvel; Roel Smeets; Ralf H Triepels; Rob C A Sengers; Frans J M Trijbels; jan smeitink
cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed.
Biochemical and biophysical research communications 1998;247(3):751-8.
1998: J L C M Loeffen; Roel Smeets; jan smeitink; Wim Ruitenbeek; Antoon Janssen; Edwin C M Mariman; Rob C A Sengers; Frans J M Trijbels; Lambert van Den Heuvel
The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: tissue expression and mutation detection.
Journal of inherited metabolic disease 1998;21(3):210-5.
1998: Markus Schuelke; J L C M Loeffen; Edwin C M Mariman; jan smeitink; Lambert van Den Heuvel
Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3'UTR with the 5'UTR of the gamma-interferon inducible protein (IP-30) precursor: is this a link between mitochondrial myopathy and inflammation?
Biochemical and biophysical research communications 1998;245(2):599-606.
1998: Lambert van Den Heuvel; Wim Ruitenbeek; Roel Smeets; Z Gelman-Kohan; Orly Elpeleg; J L C M Loeffen; Frans J M Trijbels; Edwin C M Mariman; D de Bruijn; jan smeitink
Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.
American journal of human genetics 1998;62(2):262-8.
1997: Marjan Huizing; Vito Iacobazzi; Lodewijk IJlst; P Savelkoul; Wim Ruitenbeek; Lambert van Den Heuvel; Cesare Indiveri; jan smeitink; Frans J M Trijbels; R Wanders; Ferdinando Palmieri
Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.
American journal of human genetics 1997;61(6):1239-45.