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51

Genetic disorders of magnesium homeostasis

Iwan C. Meij, Lambert P.W.J. van den Heuvel, Nine V.A.M. Knoers

Journal:

Year:

2002

Language:

english

File:

PDF, 196 KB

english, 2002

52

Human Mitochondrial Transmembrane Metabolite Carriers: Tissue Distribution and Its Implication for Mitochondrial Disorders

Marjan Huizing, Wim Ruitenbeek, Lambert P. van den Heuvel, Vincenza Dolce, Vito Iacobazzi, Jan A. M. Smeitink, Ferdinando Palmieri, J. M. Frans Trijbels

Journal:

Journal of Bioenergetics and Biomembranes

Year:

1998

Language:

english

File:

PDF, 869 KB

english, 1998

53

Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency

Murtada H. Farhoud, Leo G. Nijtmans, Ronald J. A. Wanders, Hans J. C. T. Wessels, Edwin Lasonder, Antoon J. M. Janssen, Richard R. J. Rodenburg, Lambert P. van den Heuvel, Jan A. M. Smeitink

Journal:

Year:

2012

Language:

english

File:

PDF, 1.35 MB

english, 2012

54

A Common 844INS68 Insertion Variant in the Cystathionine β-Synthase Gene

Leo A.J. Kluijtmans, Godfried H.J. Boers, Frans J.M. Trijbels, Henriëtte M.A. van Lith-Zanders, Lambert P.W.J. van den Heuvel, Henk J. Blom

Journal:

Biochemical and Molecular Medicine

Year:

1997

Language:

english

File:

PDF, 70 KB

english, 1997

55

B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement

Maïlys Guillard, Eva Morava, Jorg de Ruijter, Tony Roscioli, Johann Penzien, Lambert van den Heuvel, Michel A. Willemsen, Arjan de Brouwer, Olaf A. Bodamer, Ron A. Wevers, Dirk J. Lefeber

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 291 KB

english, 2011

56

Complement component C3 aberrations in patients with atypical haemolytic uraemic syndrome (aHUS)

Elena Volokhina, Dineke Westra, Marthe HendriksFranssen, Ellen van Loon, Marleen Huigen, Piet Gros, Nicole van de Kar, Lambert van den Heuvel

Journal:

Molecular Immunology

Year:

2010

Language:

english

File:

PDF, 68 KB

english, 2010

57

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

Jack van Horssen, Pieter Wesseling, Lambert PWJ van den Heuvel, Robert MW de Waal, Marcel M Verbeek

Journal:

The Lancet Neurology

Year:

2003

Language:

english

File:

PDF, 745 KB

english, 2003

58

Primary structure and high expression of human agrin in basement membranes of adult lung and kidney

Alexander J. A. Groffen, Carin A. F. Buskens, Toin H. van Kuppevelt, Jacques H. Veerkamp, Leo A. H. Monnens, Lambert P. W. J. van den Heuvel

Journal:

Year:

1998

Language:

english

File:

PDF, 708 KB

english, 1998

59

Expression and Characterization of Human Perlecan Domains I and II Synthesized by Baculovirus-Infected Insect Cells

Alexander J. A. Groffen, Carin A. F. Buskens, Karl Tryggvason, Jacques H. Veerkamp, Leo A. H. Monnens, Lambert P. W. J. Van Den Heuvel

Journal:

Year:

1996

Language:

english

File:

PDF, 1.17 MB

english, 1996

60

Evidence for the Existence of Multiple Heparan Sulfate Proteoglycans in the Human Glomerular Basement Membrane and Mesangial Matrix

Alexander J. A. Groffen, Frank W. H. Hop, Karl Trygovason, Henri Dijkman, Karel J. M. Assmann, Jacques H. Veerkamp, Leo A. H. Monnens, Lambert P. W. J. Van Den Heuvel

Journal:

Year:

1997

Language:

english

File:

PDF, 1.05 MB

english, 1997

61

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

Hans J. C. T. Wessels, Tom G. Bloemberg, Maurice van Dael, Ron Wehrens, Lutgarde M. C. Buydens, Lambert P. van den Heuvel, Jolein Gloerich

Journal:

Year:

2012

Language:

english

File:

PDF, 689 KB

english, 2012

62

Mapping of the Human Voltage-Dependent Anion Channel Isoforms 1 and 2 Reconsidered

Angela Messina, Marta Oliva, Cecilia Rosato, Marjan Huizing, Wim Ruitenbeek, Lambert P. van den Heuvel, Michael Forte, Mariano Rocchi, Vito De Pinto

Journal:

Biochemical and Biophysical Research Communications

Year:

1999

Language:

english

File:

PDF, 144 KB

english, 1999

63

Cloning of the Human Mitochondrial 51 kDa Subunit (NDUFV1) Reveals a 100% Antisense Homology of Its 3′UTR with the 5′UTR of the γ-Interferon Inducible Protein (IP-30) Precursor: Is This a Link between Mitochondrial Myopathy and Inflammation?

Markus Schuelke, Jan Loeffen, Edwin Mariman, Jan Smeitink, Lambert van den Heuvel

Journal:

Biochemical and Biophysical Research Communications

Year:

1998

Language:

english

File:

PDF, 332 KB

english, 1998

64

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

Jan Loeffen, Lambert van den Heuvel, Roel Smeets, Ralf Triepels, Rob Sengers, Frans Trijbels, Jan Smeitink

Journal:

Biochemical and Biophysical Research Communications

Year:

1998

Language:

english

File:

PDF, 280 KB

english, 1998

65

SURFEIT-1 Gene Analysis and Two-Dimensional Blue Native Gel Electrophoresis in Cytochrome c Oxidase Deficiency

Marieke J.H. Coenen, Lambert P. van den Heuvel, Leo G.J. Nijtmans, Eva Morava, I. Marquardt, Hermann J. Girschick, Frans J.M. Trijbels, Leslie A. Grivell, Jan A.M. Smeitink

Journal:

Biochemical and Biophysical Research Communications

Year:

1999

Language:

english

File:

PDF, 81 KB

english, 1999

66

Characterization of the Human Porin Isoform 1 (HVDAC1) Gene by Amplification on the Whole Human Genome: A Tool for Porin Deficiency Analysis

Angela Messina, Francesca Guarino, Marta Oliva, Lambert P. van den Heuvel, Jan Smeitink, Vito De Pinto

Journal:

Biochemical and Biophysical Research Communications

Year:

2000

Language:

english

File:

PDF, 94 KB

english, 2000

67

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

Edward C.T. Tan, Antoon J.M. Janssen, Peggy Roestenberg, Lambert P. van den Heuvel, R. Jan A. Goris, Richard J.T. Rodenburg

Journal:

European Journal of Pain

Year:

2011

Language:

english

File:

PDF, 444 KB

english, 2011

68

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

Ger P.A. Bongaerts, Lambert P. van den Heuvel

Journal:

Medical Hypotheses

Year:

2008

Language:

english

File:

PDF, 70 KB

english, 2008

69

Microbial mito-pathogens: Fact or fiction?

Ger P.A. Bongaerts, Lambert P. van den Heuvel

Journal:

Medical Hypotheses

Year:

2008

Language:

english

File:

PDF, 76 KB

english, 2008

70

92 Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: A cautionary note!

Maaike C. de Vries, Eva Morava, Richard J. Rodenburg, Christoph Korenke, Lambert P.W. van den Heuvel, Jan A.M. Smeitink

Journal:

Year:

2007

Language:

english

File:

PDF, 44 KB

english, 2007

71

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

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

Journal:

Experimental Cell Research

Year:

2004

Language:

english

File:

PDF, 610 KB

english, 2004

72

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

Rutger O. Vogel, Mariël A.M. van den Brand, Richard J. Rodenburg, Lambert P.W.J. van den Heuvel, Makoto Tsuneoka, Jan A.M. Smeitink, Leo G.J. Nijtmans

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 674 KB

english, 2007

73

Agrin Is a Major Heparan Sulfate Proteoglycan Accumulating in Alzheimer's Disease Brain

Marcel M. Verbeek, Irene Otte-Höller, Jacob van den Born, Lambert P.W.J. van den Heuvel, Guido David, Pieter Wesseling, Robert M.W. de Waal

Journal:

The American Journal of Pathology

Year:

1999

Language:

english

File:

PDF, 1.15 MB

english, 1999

74

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

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

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2002

Language:

english

File:

PDF, 309 KB

english, 2002

75

Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome

Sergio Papa, Salvatore Scacco, Anna Maria Sardanelli, Rosaria Vergari, Francesco Papa, Sandy Budde, Lambert van den Heuvel, Jan Smeitink

Journal:

Year:

2001

Language:

english

File:

PDF, 215 KB

english, 2001

76

Accumulation of heparan sulfate proteoglycans in cerebellar senile plaques

Jack van Horssen, Johanneke Kleinnijenhuis, Cathy N. Maass, Annemieke A.M. Rensink, Irene Otte-Höller, Guido David, Lambert P.W.J. van den Heuvel, Pieter Wesseling, Robert M.W. de Waal, Marcel M. Verb

Journal:

Neurobiology of Aging

Year:

2002

Language:

english

File:

PDF, 493 KB

english, 2002

77

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

Cristina Ugalde, Marieke J.H Coenen, Murtada H Farhoud, Stefanie Gilinsky, Werner J.H Koopman, Lambert P van den Heuvel, Jan A.M Smeitink, Leo G.J Nijtmans

Journal:

Year:

2002

Language:

english

File:

PDF, 349 KB

english, 2002

78

Cloning of the Human Carnitine-Acylcarnitine Carrier cDNA and Identification of the Molecular Defect in a Patient

Marjan Huizing, Vito Iacobazzi, Lodewijk IJlst, Paul Savelkoul, Wim Ruitenbeek, Lambert van den Heuvel, Cesare Indiveri, Jan Smeitink, Frans Trijbels, Ronald Wanders, Ferdinando Palmieri

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 1.18 MB

english, 1997

79

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

Lambert van den Heuvel, Wim Ruitenbeek, Roel Smeets, Zully Gelman-Kohan, Orly Elpeleg, Jan Loeffen, Frans Trijbels, Edwin Mariman, Diederik de Bruijn, Jan Smeitink

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 1.34 MB

english, 1998

80

A Second Common Mutation in the Methylenetetrahydrofolate Reductase Gene: An Additional Risk Factor for Neural-Tube Defects?

Nathalie M.J. van der Put, Fons Gabreëls, Erik M.B. Stevens, Jan A.M. Smeitink, Frans J.M. Trijbels, Tom K.A.B. Eskes, Lambert P. van den Heuvel, Henk J. Blom

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 300 KB

english, 1998

81

Localization of the ICF Syndrome to Chromosome 20 by Homozygosity Mapping

Cisca Wijmenga, Lambert P. W.J. van den Heuvel, Eric Strengman, Jan A.F.M. Luyten, Ineke J.A.M. van der Burgt, Ronald de Groot, Dominique F.C.M. Smeets, Jos M.T. Draaisma, Jacques J. van Dongen, Ronne

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 1.14 MB

english, 1998

82

The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome

Jan Loeffen, Jan Smeitink, Ralf Triepels, Roel Smeets, Markus Schuelke, Rob Sengers, Frans Trijbels, Ben Hamel, Renier Mullaart, Lambert van den Heuvel

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 847 KB

english, 1998

83

Hereditary Isolated Renal Magnesium Loss Maps to Chromosome 11q23

Iwan C. Meij, Kathrin Saar, Lambert P.W.J. van den Heuvel, Gudrun Nuernberg, Martin Vollmer, Friedhelm Hildebrandt, André Reis, Leo A.H. Monnens, Nine V.A.M. Knoers

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 2.49 MB

english, 1999

84

The Molecular Basis of Cystathionine β-Synthase Deficiency in Dutch Patients with Homocystinuria: Effect of CBS Genotype on Biochemical and Clinical Phenotype and on Response to Treatment

Leo A.J. Kluijtmans, Godfried H.J. Boers, Jan P. Kraus, Lambert P. W.J. van den Heuvel, Johan R.M. Cruysberg, Frans J.M. Trijbels, Henk J. Blom

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 116 KB

english, 1999

85

Human Mitochondrial Complex I in Health and Disease

Jan Smeitink, Lambert van den Heuvel

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 72 KB

english, 1999

86

Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochromecoxidase

Radek Szklarczyk, Bas FJ Wanschers, Thomas D Cuypers, John J Esseling, Moniek Riemersma, Mariël AM van den Brand, Jolein Gloerich, Edwin Lasonder, Lambert P van den Heuvel, Leo G Nijtmans, Martijn A H

Journal:

Year:

2012

Language:

english

File:

PDF, 880 KB

english, 2012

87

Genetic defects in the oxidative phosphorylation (OXPHOS) system

Janssen, Rolf JRJ, van den Heuvel, Lambert P, Smeitink, Jan AM

Journal:

Expert Review of Molecular Diagnostics

Year:

2004

Language:

english

File:

PDF, 340 KB

english, 2004

88

Proteomics Approaches to Study Genetic and Metabolic Disorders

Gloerich, Jolein, Wevers, Ron A., Smeitink, Jan A. M., van Engelen, Baziel G., van den Heuvel, Lambert P.

Journal:

Journal of Proteome Research

Year:

2007

Language:

english

File:

PDF, 326 KB

english, 2007

89

Cross-reactivity of monoclonal anti-DNA antibodies with heparan sulfate is mediated via bound DNA/histone complexes

Termaat, Rose-Marie, Brinkman, Kees, van Gompel, Fons, van den Heuvel, Lambert P.W.J., Veerkamp, Jacques H., Smeenk, Ruud J.T., Berden, Jo H.M.

Journal:

Journal of Autoimmunity

Year:

1990

Language:

english

File:

PDF, 1.61 MB

english, 1990

90

SURGERY.

Termaat, Rose-Marie, Brinkman, Kees, van Gompel, Fons, van den Heuvel, Lambert P.W.J., Veerkamp, Jacques H., Smeenk, Ruud J.T., Berden, Jo H.M.

Journal:

Year:

1902

Language:

english

File:

PDF, 534 KB

english, 1902

91

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

Westra, Dineke, Kurvers, Roel A.J., van den Heuvel, Lambert P., Würzner, Reinhard, Hoppenreijs, Esther P.A.H., van der Flier, Michiel, van de Kar, Nicole C.A.J., Warris, Adilia

Journal:

Molecular Immunology

Year:

2014

Language:

english

File:

PDF, 852 KB

english, 2014

92

A novel mutation in COQ2 leading to fatal infantile multisystem disease

Jakobs, Bernadette S., van den Heuvel, Lambert P., Smeets, Roel J.P., de Vries, Maaike C., Hien, Steffen, Schaible, Thomas, Smeitink, Jan A.M., Wevers, Ron A., Wortmann, Saskia B., Rodenburg, Richard

Journal:

Journal of the Neurological Sciences

Year:

2013

Language:

english

File:

PDF, 258 KB

english, 2013

93

Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

Wortmann, Saskia B., Champion, Michael P., van den Heuvel, Lambert, Barth, H., Trutnau, B., Craig, Kate, Lammens, Martin, Schreuder, Michiel F., Taylor, Robert W., Smeitink, Jan A.M., Wevers, Ron A.,

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 553 KB

english, 2012

94

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

Farhoud, Murtada H., Wessels, Hans J. C. T., Wevers, Ron A., van Engelen, Baziel G., van den Heuvel, Lambert P., Smeitink, Jan A.

Journal:

Journal of Proteome Research

Year:

2005

Language:

english

File:

PDF, 531 KB

english, 2005

95

Pinpointing Biomarkers in Proteomic LC/MS Data by Moving-Window Discriminant Analysis

Bloemberg, Tom G., Wessels, Hans J. C. T., van Dael, Maurice, Gloerich, Jolein, van den Heuvel, Lambert P., Buydens, Lutgarde M. C., Wehrens, Ron

Journal:

Analytical Chemistry

Year:

2011

Language:

english

File:

PDF, 4.49 MB

english, 2011

96

Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy

Baertling, Fabian, A.M. van den Brand, Mariel, Hertecant, Jozef L., Al-Shamsi, Aisha, P. van den Heuvel, Lambert, Distelmaier, Felix, Mayatepek, Ertan, Smeitink, Jan A., Nijtmans, Leo G.J., Rodenburg,

Journal:

Year:

2015

Language:

english

File:

PDF, 378 KB

english, 2015

97

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

Westra, Dineke, Vernon, Katherine A, Volokhina, Elena B, Pickering, Matthew C, van de Kar, Nicole C A J, van den Heuvel, Lambert P

Journal:

Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 353 KB

english, 2012

98

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

Schophuizen, Carolien M.S., De Napoli, Ilaria E., Jansen, Jitske, Teixeira, Sandra, Wilmer, Martijn J., Hoenderop, Joost G.J., Van den Heuvel, Lambert P.W., Masereeuw, Rosalinde, Stamatialis, Dimitrio

Journal:

Acta Biomaterialia

Year:

2015

Language:

english

File:

PDF, 2.62 MB

english, 2015

99

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

Schwab, Marina A., Sauer, Sven W., Okun, Jürgen G., Nijtmans, Leo G. J., Rodenburg, Richard J. T., van den Heuvel, Lambert P., Dröse, Stefan, Brandt, Ulrich, Hoffmann, Georg F., Ter Laak, Henk, Kölker

Journal:

Biochemical Journal

Year:

2006

Language:

english

File:

PDF, 366 KB

english, 2006

100

Whole exome sequencing of suspected mitochondrial patients in clinical practice

Wortmann, Saskia B., Koolen, David A., Smeitink, Jan A., van den Heuvel, Lambert, Rodenburg, Richard J.

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

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