Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation
de Laat, Paul, Koene, Saskia, van den Heuvel, Lambert P. W. J., Rodenburg, Richard J. T., Janssen, Mirian C. H., Smeitink, Jan A. M.
Published in Journal of inherited metabolic disease (01.11.2012)
Published in Journal of inherited metabolic disease (01.11.2012)
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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, Stefan, Smeitink, Jan A M
Published in Biochemical journal (15.08.2006)
Published in Biochemical journal (15.08.2006)
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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
Published in Journal of human genetics (01.07.2012)
Published in Journal of human genetics (01.07.2012)
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Journal Article
Identification of Mitochondrial Complex I Assembly Intermediates by Tracing Tagged NDUFS3 Demonstrates the Entry Point of Mitochondrial Subunits
Vogel, Rutger O., Dieteren, Cindy E.J., van den Heuvel, Lambert P. W.J., Willems, Peter H. G.M., Smeitink, Jan A.M., Koopman, Werner J.H., Nijtmans, Leo G.J.
Published in The Journal of biological chemistry (09.03.2007)
Published in The Journal of biological chemistry (09.03.2007)
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Journal Article
Reconstructing the evolution of the mitochondrial ribosomal proteome
Smits, Paulien, Smeitink, Jan A.M, van den Heuvel, Lambert P, Huynen, Martijn A, Ettema, Thijs J.G
Published in Nucleic acids research (01.07.2007)
Published in Nucleic acids research (01.07.2007)
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Mitochondrial complex I: Structure, function and pathology
Janssen, Rolf J. R. J., Nijtmans, Leo G., Heuvel, Lambert P. van den, Smeitink, Jan A. M.
Published in Journal of inherited metabolic disease (01.08.2006)
Published in Journal of inherited metabolic disease (01.08.2006)
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Journal Article
Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLGI) mutations
DE VRIES, Maaike C, RODENBURG, Richard J, SMEITINK, Jan A. M, MORAVA, Eva, VAN KAAUWEN, Edwin P. M, TER LAAK, Henk, MULLAART, Reinier A, SNOECK, Irina N, VAN HASSELT, Peter M, HARDING, Peter, VAN DEN HEUVEL, Lambert P. W
Published in European journal of pediatrics (01.03.2007)
Published in European journal of pediatrics (01.03.2007)
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Implications of genetic variation in the complement system in age-related macular degeneration
de Jong, Sarah, Gagliardi, Giuliana, Garanto, Alejandro, de Breuk, Anita, Lechanteur, Yara T.E., Katti, Suresh, van den Heuvel, Lambert P., Volokhina, Elena B., den Hollander, Anneke I.
Published in Progress in retinal and eye research (01.09.2021)
Published in Progress in retinal and eye research (01.09.2021)
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Therapeutic concentrations of calcineurin inhibitors do not deregulate glutathione redox balance in human renal proximal tubule cells
Ramazani, Yasaman, Knops, Noël, Berlingerio, Sante Princiero, Adebayo, Oyindamola Christiana, Lismont, Celien, Kuypers, Dirk J, Levtchenko, Elena, van den Heuvel, Lambert P, Fransen, Marc
Published in PloS one (30.04.2021)
Published in PloS one (30.04.2021)
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Journal Article
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, Richard J.T.
Published in Human mutation (01.01.2015)
Published in Human mutation (01.01.2015)
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Journal Article
Identification and subcellular localization of a new cystinosin isoform
Taranta, Anna, Petrini, Stefania, Palma, Alessia, Mannucci, Liliana, Wilmer, Martijn J, De Luca, Veronica, Diomedi-Camassei, Francesca, Corallini, Serena, Bellomo, Francesco, van den Heuvel, Lambert P, Levtchenko, Elena N, Emma, Francesco
Published in American journal of physiology. Renal physiology (01.05.2008)
Published in American journal of physiology. Renal physiology (01.05.2008)
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Journal Article
Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome
de Jong, Sarah, de Breuk, Anita, Bakker, Bjorn, Katti, Suresh, Hoyng, Carel B, Nilsson, Sara C, Blom, Anna M, van den Heuvel, Lambert P, den Hollander, Anneke I, Volokhina, Elena B
Published in Frontiers in immunology (05.01.2022)
Published in Frontiers in immunology (05.01.2022)
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Isolation and characterization of conditionally immortalized mouse glomerular endothelial cell lines
Rops, Angelique L., Van Der Vlag, Johan, Jacobs, Cor W., Dijkman, Henry B., Lensen, Joost F., Wijnhoven, Tessa J., Van Den Heuvel, Lambert P., Van Kuppevelt, Toin H., Berden, Jo H.
Published in Kidney international (01.12.2004)
Published in Kidney international (01.12.2004)
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Journal Article
A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy
JONCKHEERE, An I, RENKEMA, G. Herma, RODENBURG, Richard J. T, BRAS, Maaike, DEN HEUVEL, Lambert P. Van, HOISCHEN, Alexander, GILISSEN, Christian, NABUURS, Sander B, HUYNEN, Martijn A, DE VRIES, Maaike C, SMEITINK, Jan A. M
Published in Brain (London, England : 1878) (01.05.2013)
Published in Brain (London, England : 1878) (01.05.2013)
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Journal Article
Primary Human Derived Blood Outgrowth Endothelial Cells: An Appropriate In Vitro Model to Study Shiga Toxin Mediated Damage of Endothelial Cells
Feitz, Wouter J C, van de Kar, Nicole C A J, Cheong, Ian, van der Velden, Thea J A M, Ortiz-Sandoval, Carolina G, Orth-Höller, Dorothea, van den Heuvel, Lambert P J W, Licht, Christoph
Published in Toxins (29.07.2020)
Published in Toxins (29.07.2020)
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Journal Article
Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease
Saada, Ann, Vogel, Rutger O., Hoefs, Saskia J., van den Brand, Mariël A., Wessels, Hans J., Willems, Peter H., Venselaar, Hanka, Shaag, Avraham, Barghuti, Flora, Reish, Orit, Shohat, Mordechai, Huynen, Martijn A., Smeitink, Jan A.M., van den Heuvel, Lambert P., Nijtmans, Leo G.
Published in American journal of human genetics (12.06.2009)
Published in American journal of human genetics (12.06.2009)
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Journal Article
The Shiga Toxin Receptor Globotriaosylceramide as Therapeutic Target in Shiga Toxin E. coli Mediated HUS
Feitz, Wouter J. C., Bouwmeester, Romy, van der Velden, Thea J. A. M., Goorden, Susan, Licht, Christoph, van den Heuvel, Lambert P. J. W., van de Kar, Nicole C. A. J.
Published in Microorganisms (Basel) (16.10.2021)
Published in Microorganisms (Basel) (16.10.2021)
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Journal Article
A Novel Choroidal Endothelial Cell Line Has a Decreased Affinity for the Age-Related Macular Degeneration-Associated Complement Factor H Variant 402H
Loeven, Markus A, van Gemst, Jasper J, Schophuizen, Carolien M S, Tilakaratna, Viranga, van den Heuvel, Lambert P, Day, Anthony J, Klevering, B Jeroen, van der Vlag, Johan
Published in Investigative ophthalmology & visual science (01.02.2018)
Published in Investigative ophthalmology & visual science (01.02.2018)
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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
Szklarczyk, Radek, Wanschers, Bas Fj, Cuypers, Thomas D, Esseling, John J, Riemersma, Moniek, van den Brand, Mariël Am, Gloerich, Jolein, Lasonder, Edwin, van den Heuvel, Lambert P, Nijtmans, Leo G, Huynen, Martijn A
Published in Genome biology (22.02.2012)
Published in Genome biology (22.02.2012)
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