Search

Your search keyword '"van Kuilenburg, André B.P."' showing total 38 results
Start Over Author "van Kuilenburg, André B.P." Search Limiters Available in Library Collection
38 results on '"van Kuilenburg, André B.P."'

3. Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure

Author

Pérez-Torras, Sandra, Mata-Ventosa, Aida, Drögemöller, Britt, Tarailo-Graovac, Maja, Meijer, Judith, Meinsma, Rutger, van Cruchten, Arno G., Kulik, Wim, Viel-Oliva, Albert, Bidon-Chanal, Axel, Ross, Colin J., Wassermann, Wyeth W., van Karnebeek, Clara D.M., Pastor-Anglada, Marçal, and van Kuilenburg, André B.P.

Published
2019
Full Text
View/download PDF

9. Dihydropyrimidine Dehydrogenase Phenotyping Using Pretreatment Uracil:A Note of Caution Based on a Large Prospective Clinical Study

Author

de With, Mirjam, Knikman, Jonathan, de Man, Femke M., Lunenburg, Carin A.T.C., Henricks, Linda M., van Kuilenburg, André B.P., Maring, Jan G., van Staveren, Maurice C., de Vries, Niels, Rosing, Hilde, Beijnen, Jos H., Pluim, Dick, Modak, Anil, Imholz, Alex L.T., van Schaik, Ron H.N., Schellens, Jan H.M., Gelderblom, Hans, Cats, Annemieke, Guchelaar, Henk Jan, Mathijssen, Ron H.J., Swen, Jesse J., Meulendijks, Didier, de With, Mirjam, Knikman, Jonathan, de Man, Femke M., Lunenburg, Carin A.T.C., Henricks, Linda M., van Kuilenburg, André B.P., Maring, Jan G., van Staveren, Maurice C., de Vries, Niels, Rosing, Hilde, Beijnen, Jos H., Pluim, Dick, Modak, Anil, Imholz, Alex L.T., van Schaik, Ron H.N., Schellens, Jan H.M., Gelderblom, Hans, Cats, Annemieke, Guchelaar, Henk Jan, Mathijssen, Ron H.J., Swen, Jesse J., and Meulendijks, Didier

Abstract

In clinical practice, 25–30% of the patients treated with fluoropyrimidines experience severe fluoropyrimidine-related toxicity. Extensively clinically validated DPYD genotyping tests are available to identify patients at risk of severe toxicity due to decreased activity of dihydropyrimidine dehydrogenase (DPD), the rate limiting enzyme in fluoropyrimidine metabolism. In April 2020, the European Medicines Agency recommended that, as an alternative for DPYD genotype-based testing for DPD deficiency, also phenotype testing based on pretreatment plasma uracil levels is a suitable method to identify patients with DPD deficiency. Although the evidence for genotype-directed dosing of fluoropyrimidines is substantial, the level of evidence supporting plasma uracil levels to predict DPD activity in clinical practice is limited. Notwithstanding this, uracil-based phenotyping is now used in clinical practice in various countries in Europe. We aimed to determine the value of pretreatment uracil levels in predicting DPD deficiency and severe treatment-related toxicity. To this end, we determined pretreatment uracil levels in 955 patients with cancer, and assessed the correlation with DPD activity in peripheral blood mononuclear cells (PBMCs) and fluoropyrimidine-related severe toxicity. We identified substantial issues concerning the use of pretreatment uracil in clinical practice, including large between-center study differences in measured pretreatment uracil levels, most likely as a result of pre-analytical factors. Importantly, we were not able to correlate pretreatment uracil levels with DPD activity nor were uracil levels predictive of severe treatment-related toxicity. We urge that robust clinical validation should first be performed before pretreatment plasma uracil levels are used in clinical practice as part of a dosing strategy for fluoropyrimidines.

Published
2022

10. Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients

Author

van Kuilenburg, André B.P., Dobritzsch, Doreen, Meijer, Judith, Meinsma, Rutger, Benoist, Jean-François, Assmann, Birgit, Schubert, Susanne, Hoffmann, Georg F., Duran, Marinus, de Vries, Maaike C., Kurlemann, Gerd, Eyskens, François J.M., Greed, Lawrence, Sass, Jörn Oliver, Schwab, K. Otfried, Sewell, Adrian C., Walter, John, Hahn, Andreas, Zoetekouw, Lida, Ribes, Antonia, Lind, Suzanne, and Hennekam, Raoul C.M.

Published
2010
Full Text
View/download PDF

11. Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1

Author

de Brouwer, Arjan P.M., Williams, Kelly L., Duley, John A., van Kuilenburg, André B.P., Nabuurs, Sander B., Egmont-Petersen, Michael, Lugtenberg, Dorien, Zoetekouw, Lida, Banning, Martijn J.G., Roeffen, Melissa, Hamel, Ben C.J., Weaving, Linda, Ouvrier, Robert A., Donald, Jennifer A., Wevers, Ron A., Christodoulou, John, and van Bokhoven, Hans

Published
2007
Full Text
View/download PDF

12. Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)

Author

Lenherr, Nina, primary, Christodoulou, John, additional, Duley, John, additional, Dobritzsch, Doreen, additional, Fairbanks, Lynette, additional, Datta, Alexandre N., additional, Filges, Isabel, additional, Gürtler, Nicolas, additional, Roelofsen, Jeroen, additional, van Kuilenburg, André B.P., additional, Kemper, Claudia, additional, West, Erin E., additional, Szinnai, Gabor, additional, and Huemer, Martina, additional

Published
2021
Full Text
View/download PDF

14. Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease

Author

van der Veen, Sanne J., primary, Vlietstra, Wytze J., additional, van Dussen, Laura, additional, van Kuilenburg, André B.P., additional, Dijkgraaf, Marcel G. W., additional, Lenders, Malte, additional, Brand, Eva, additional, Wanner, Christoph, additional, Hughes, Derralynn, additional, Elliott, Perry M., additional, Hollak, Carla E. M., additional, and Langeveld, Mirjam, additional

Published
2020
Full Text
View/download PDF

15. Liposome-targeted recombinant human acid sphingomyelinase: Production, formulation, and in vitro evaluation

Author

Aldosari, Mohammed H., de Vries, Robert P., Rodriguez, Lucia R., Hesen, Nienke A., Beztsinna, Nataliia, van Kuilenburg, André B.P., Hollak, Carla E.M., Schellekens, Huub, Mastrobattista, Enrico, Afd Pharmaceutics, Afd Chemical Biology and Drug Discovery, Pharmaceutics, Chemical Biology and Drug Discovery, Afd Pharmaceutics, Afd Chemical Biology and Drug Discovery, Pharmaceutics, Chemical Biology and Drug Discovery, Laboratory Genetic Metabolic Diseases, AGEM - Inborn errors of metabolism, and Endocrinology

Subjects
Ceramide, Pharmaceutical Science, Lysosomal storage disease, 02 engineering and technology, Pharmacology, Ceramides, 030226 pharmacology & pharmacy, 03 medical and health sciences, chemistry.chemical_compound, Mice, 0302 clinical medicine, medicine, Extracellular, Animals, Humans, Acid sphingomyelinase, Phosphocholine, Liposome, Dose-Response Relationship, Drug, Macrophages, General Medicine, Fibroblasts, 021001 nanoscience & nanotechnology, medicine.disease, Lipids, In vitro, Recombinant Proteins, Sphingomyelins, HEK293 Cells, RAW 264.7 Cells, Sphingomyelin Phosphodiesterase, chemistry, Enzyme replacement therapy, Liposomes, lipids (amino acids, peptides, and proteins), 0210 nano-technology, Niemann–Pick disease, Sphingomyelin, Lysosomes, Niemann-Pick disease, Rare disease, medicine.drug, Biotechnology
Abstract

Niemann-Pick disease type B is a hereditary rare condition caused by deficiency of the acid sphingomyelinase (ASM) that is needed for lysosomal hydrolysis of sphingomyelin to ceramide and phosphocholine. This deficiency leads to a massive accumulation of sphingomyelin in cells throughout the body, predominantly in the liver, spleen and lungs. Currently, there is no effective treatment available. Olipudase alfa (recombinant human acid sphingomyelinase; rhASM) is an investigational drug that has shown promising results. However, dose-dependent toxicity was observed in mice upon the intravenous administration of rhASM, potentially due to the systemic release of ceramide upon the extracellular degradation of sphingomyelin by rhASM. Using a nanocarrier to deliver the rhASM to cells could improve the therapeutic window by shielding the rhASM to prevent the off-target degradation of sphingomyelin. For this aim, we recombinantly expressed hASM in human cells and loaded it into different liposomal formulations at a drug-to-lipid ratio of 4% (w/w). Among four formulations, the liposomal rhASM formulation with the composition DPPC:DOPS:BMP:CHOL:DiD (59:20:10:10:1 mol%) was selected because of its superiority concerning the encapsulation efficiency of rhASM (21%) and cellular uptake by fibroblasts and macrophages. The selected liposomal rhASM formulation significantly reduced the accumulated lyso-sphingomyelin in NPD-B fibroblasts by 71%, part of this effect was stimulated by the used lipids, compared to 55% when using the free rhASM enzyme. More importantly, the undesired extracellular degradation of sphingomyelin was reduced when using the selected liposomal rhASM by 61% relative to the free rhASM. The presented in vitro data indicate that the liposomal rhASM is effective and may provide a safer intervention than free rhASM.

Published
2019

18. A cost analysis of upfront DPYD genotype–guided dose individualisation in fluoropyrimidine-based anticancer therapy

Author

Henricks, Linda M., Lunenburg, Carin A.T.C., de Man, Femke M., Meulendijks, Didier, Frederix, Geert W.J., Kienhuis, Emma, Creemers, Geert Jan, Baars, Arnold, Dezentjé, Vincent O., Imholz, Alexander L.T., Jeurissen, Frank J.F., Portielje, Johanna E.A., Jansen, Rob L.H., Hamberg, Paul, ten Tije, Albert J., Droogendijk, Helga J., Koopman, Miriam, Nieboer, Peter, van de Poel, Marlène H.W., Mandigers, Caroline M.P.W., Rosing, Hilde, Beijnen, Jos H., van Werkhoven, Erik, van Kuilenburg, André B.P., van Schaik, Ron H.N., Mathijssen, Ron H.J., Swen, Jesse J., Gelderblom, Hans, Cats, Annemieke, Guchelaar, Henk Jan, Schellens, Jan H.M., Henricks, Linda M., Lunenburg, Carin A.T.C., de Man, Femke M., Meulendijks, Didier, Frederix, Geert W.J., Kienhuis, Emma, Creemers, Geert Jan, Baars, Arnold, Dezentjé, Vincent O., Imholz, Alexander L.T., Jeurissen, Frank J.F., Portielje, Johanna E.A., Jansen, Rob L.H., Hamberg, Paul, ten Tije, Albert J., Droogendijk, Helga J., Koopman, Miriam, Nieboer, Peter, van de Poel, Marlène H.W., Mandigers, Caroline M.P.W., Rosing, Hilde, Beijnen, Jos H., van Werkhoven, Erik, van Kuilenburg, André B.P., van Schaik, Ron H.N., Mathijssen, Ron H.J., Swen, Jesse J., Gelderblom, Hans, Cats, Annemieke, Guchelaar, Henk Jan, and Schellens, Jan H.M.

Published
2019

19. Liposome-targeted recombinant human acid sphingomyelinase: Production, formulation, and in vitro evaluation

Author

Afd Pharmaceutics, Afd Chemical Biology and Drug Discovery, Pharmaceutics, Chemical Biology and Drug Discovery, Aldosari, Mohammed H., de Vries, Robert P., Rodriguez, Lucia R., Hesen, Nienke A., Beztsinna, Nataliia, van Kuilenburg, André B.P., Hollak, Carla E.M., Schellekens, Huub, Mastrobattista, Enrico, Afd Pharmaceutics, Afd Chemical Biology and Drug Discovery, Pharmaceutics, Chemical Biology and Drug Discovery, Aldosari, Mohammed H., de Vries, Robert P., Rodriguez, Lucia R., Hesen, Nienke A., Beztsinna, Nataliia, van Kuilenburg, André B.P., Hollak, Carla E.M., Schellekens, Huub, and Mastrobattista, Enrico

Published
2019

20. A cost analysis of upfront DPYD genotype–guided dose individualisation in fluoropyrimidine-based anticancer therapy

Author

Apotheek Opleiding, UMC Utrecht, HEE, Child Health, JC onderzoeksprogramma Methodologie, MS Medische Oncologie, Henricks, Linda M., Lunenburg, Carin A.T.C., de Man, Femke M., Meulendijks, Didier, Frederix, Geert W.J., Kienhuis, Emma, Creemers, Geert Jan, Baars, Arnold, Dezentjé, Vincent O., Imholz, Alexander L.T., Jeurissen, Frank J.F., Portielje, Johanna E.A., Jansen, Rob L.H., Hamberg, Paul, ten Tije, Albert J., Droogendijk, Helga J., Koopman, Miriam, Nieboer, Peter, van de Poel, Marlène H.W., Mandigers, Caroline M.P.W., Rosing, Hilde, Beijnen, Jos H., van Werkhoven, Erik, van Kuilenburg, André B.P., van Schaik, Ron H.N., Mathijssen, Ron H.J., Swen, Jesse J., Gelderblom, Hans, Cats, Annemieke, Guchelaar, Henk Jan, Schellens, Jan H.M., Apotheek Opleiding, UMC Utrecht, HEE, Child Health, JC onderzoeksprogramma Methodologie, MS Medische Oncologie, Henricks, Linda M., Lunenburg, Carin A.T.C., de Man, Femke M., Meulendijks, Didier, Frederix, Geert W.J., Kienhuis, Emma, Creemers, Geert Jan, Baars, Arnold, Dezentjé, Vincent O., Imholz, Alexander L.T., Jeurissen, Frank J.F., Portielje, Johanna E.A., Jansen, Rob L.H., Hamberg, Paul, ten Tije, Albert J., Droogendijk, Helga J., Koopman, Miriam, Nieboer, Peter, van de Poel, Marlène H.W., Mandigers, Caroline M.P.W., Rosing, Hilde, Beijnen, Jos H., van Werkhoven, Erik, van Kuilenburg, André B.P., van Schaik, Ron H.N., Mathijssen, Ron H.J., Swen, Jesse J., Gelderblom, Hans, Cats, Annemieke, Guchelaar, Henk Jan, and Schellens, Jan H.M.

Published
2019

21. DPYD genotype-guided dose individualisation of fluoropyrimidine therapy in patients with cancer : a prospective safety analysis

Author

Henricks, Linda M., Lunenburg, Carin A.T.C., de Man, Femke M., Meulendijks, Didier, Frederix, Geert W.J., Kienhuis, Emma, Creemers, Geert Jan, Baars, Arnold, Dezentjé, Vincent O., Imholz, Alexander L.T., Jeurissen, Frank J.F., Portielje, Johanna E.A., Jansen, Rob L.H., Hamberg, Paul, ten Tije, Albert J., Droogendijk, Helga J., Koopman, Miriam, Nieboer, Peter, van de Poel, Marlène H.W., Mandigers, Caroline M.P.W., Rosing, Hilde, Beijnen, Jos H., Werkhoven, Erik van, van Kuilenburg, André B.P., van Schaik, Ron H.N., Mathijssen, Ron H.J., Swen, Jesse J., Gelderblom, Hans, Cats, Annemieke, Guchelaar, Henk Jan, Schellens, Jan H.M., Henricks, Linda M., Lunenburg, Carin A.T.C., de Man, Femke M., Meulendijks, Didier, Frederix, Geert W.J., Kienhuis, Emma, Creemers, Geert Jan, Baars, Arnold, Dezentjé, Vincent O., Imholz, Alexander L.T., Jeurissen, Frank J.F., Portielje, Johanna E.A., Jansen, Rob L.H., Hamberg, Paul, ten Tije, Albert J., Droogendijk, Helga J., Koopman, Miriam, Nieboer, Peter, van de Poel, Marlène H.W., Mandigers, Caroline M.P.W., Rosing, Hilde, Beijnen, Jos H., Werkhoven, Erik van, van Kuilenburg, André B.P., van Schaik, Ron H.N., Mathijssen, Ron H.J., Swen, Jesse J., Gelderblom, Hans, Cats, Annemieke, Guchelaar, Henk Jan, and Schellens, Jan H.M.

Published
2018

22. DPYD genotype-guided dose individualisation of fluoropyrimidine therapy in patients with cancer: a prospective safety analysis

Author

Apotheek Opleiding, UMC Utrecht, HEE, Child Health, JC onderzoeksprogramma Methodologie, MS Medische Oncologie, Henricks, Linda M., Lunenburg, Carin A.T.C., de Man, Femke M., Meulendijks, Didier, Frederix, Geert W.J., Kienhuis, Emma, Creemers, Geert Jan, Baars, Arnold, Dezentjé, Vincent O., Imholz, Alexander L.T., Jeurissen, Frank J.F., Portielje, Johanna E.A., Jansen, Rob L.H., Hamberg, Paul, ten Tije, Albert J., Droogendijk, Helga J., Koopman, Miriam, Nieboer, Peter, van de Poel, Marlène H.W., Mandigers, Caroline M.P.W., Rosing, Hilde, Beijnen, Jos H., Werkhoven, Erik van, van Kuilenburg, André B.P., van Schaik, Ron H.N., Mathijssen, Ron H.J., Swen, Jesse J., Gelderblom, Hans, Cats, Annemieke, Guchelaar, Henk Jan, Schellens, Jan H.M., Apotheek Opleiding, UMC Utrecht, HEE, Child Health, JC onderzoeksprogramma Methodologie, MS Medische Oncologie, Henricks, Linda M., Lunenburg, Carin A.T.C., de Man, Femke M., Meulendijks, Didier, Frederix, Geert W.J., Kienhuis, Emma, Creemers, Geert Jan, Baars, Arnold, Dezentjé, Vincent O., Imholz, Alexander L.T., Jeurissen, Frank J.F., Portielje, Johanna E.A., Jansen, Rob L.H., Hamberg, Paul, ten Tije, Albert J., Droogendijk, Helga J., Koopman, Miriam, Nieboer, Peter, van de Poel, Marlène H.W., Mandigers, Caroline M.P.W., Rosing, Hilde, Beijnen, Jos H., Werkhoven, Erik van, van Kuilenburg, André B.P., van Schaik, Ron H.N., Mathijssen, Ron H.J., Swen, Jesse J., Gelderblom, Hans, Cats, Annemieke, Guchelaar, Henk Jan, and Schellens, Jan H.M.

Published
2018

23. Diagnostic and therapeutic strategies for fluoropyrimidine treatment of patients carrying multiple DPYD variants

Author

Lunenburg, Carin A.T.C., Henricks, Linda M., van Kuilenburg, André B.P., Mathijssen, Ron H.J., Schellens, Jan H.M., Gelderblom, Hans, Guchelaar, Henk Jan, Swen, Jesse J., Lunenburg, Carin A.T.C., Henricks, Linda M., van Kuilenburg, André B.P., Mathijssen, Ron H.J., Schellens, Jan H.M., Gelderblom, Hans, Guchelaar, Henk Jan, and Swen, Jesse J.

Abstract

DPYD genotyping prior to fluoropyrimidine treatment is increasingly implemented in clinical care. Without phasing information (i.e., allelic location of variants), current genotype-based dosing guidelines cannot be applied to patients carrying multiple DPYD variants. The primary aim of this study is to examine diagnostic and therapeutic strategies for fluoropyrimidine treatment of patients carrying multiple DPYD variants. A case series of patients carrying multiple DPYD variants is presented. Different genotyping techniques were used to determine phasing information. Phenotyping was performed by dihydropyrimidine dehydrogenase (DPD) enzyme activity measurements. Publicly available databases were queried to explore the frequency and phasing of variants of patients carrying multiple DPYD variants. Four out of seven patients carrying multiple DPYD variants received a full dose of fluoropyrimidines and experienced severe toxicity. Phasing information could be retrieved for four patients. In three patients, variants were located on two different alleles, i.e., in trans. Recommended dose reductions based on the phased genotype differed from the phenotype-derived dose reductions in three out of four cases. Data from publicly available databases show that the frequency of patients carrying multiple DPYD variants is low (< 0.2%), but higher than the frequency of the commonly tested DPYD*13 variant (0.1%). Patients carrying multiple DPYD variants are at high risk of developing severe toxicity. Additional analyses are required to determine the correct dose of fluoropyrimidine treatment. In patients carrying multiple DPYD variants, we recommend that a DPD phenotyping assay be carried out to determine a safe starting dose.

Published
2018

25. Catecholamines profiles at diagnosis: Increased diagnostic sensitivity and correlation with biological and clinical features in neuroblastoma patients

Author

PMC Research, Onderzoek Beeld, Cancer, Verly, Iedan R.N., van Kuilenburg, André B.P., Abeling, Nico G.G.M., Goorden, Susan M.I., Fiocco, Marta, Vaz, Frédéric M., van Noesel, Max M., Zwaan, C. Michel, Kaspers, Gert Jan L., Merks, Johannes H.M., Caron, Huib N., Tytgat, Godelieve A.M., PMC Research, Onderzoek Beeld, Cancer, Verly, Iedan R.N., van Kuilenburg, André B.P., Abeling, Nico G.G.M., Goorden, Susan M.I., Fiocco, Marta, Vaz, Frédéric M., van Noesel, Max M., Zwaan, C. Michel, Kaspers, Gert Jan L., Merks, Johannes H.M., Caron, Huib N., and Tytgat, Godelieve A.M.

Published
2017

26. CIAO1and MMS19deficiency: a lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

Author

van Karnebeek, Clara D.M., Tarailo-Graovac, Maja, Leen, René, Meinsma, Rutger, Correard, Solenne, Jansen-Meijer, Judith, Prykhozhij, Sergey V., Pena, Izabella A., Ban, Kevin, Schock, Sarah, Saxena, Vishal, Pras-Raves, Mia L., Drögemöller, Britt I., Grootemaat, Anita E., van der Wel, Nicole N., Dobritzsch, Doreen, Roseboom, Winfried, Schomakers, Bauke V., Jaspers, Yorrick R.J., Zoetekouw, Lida, Roelofsen, Jeroen, Ferreira, Carlos R., van der Lee, Robin, Ross, Colin J., Kochan, Jakub, McIntyre, Rebecca L., van Klinken, Jan B., van Weeghel, Michel, Kramer, Gertjan, Weschke, Bernhard, Labrune, Philippe, Willemsen, Michèl A., Riva, Daria, Garavaglia, Barbara, Moeschler, John B., Filiano, James J., Ekker, Marc, Berman, Jason N., Dyment, David, Vaz, Frédéric M., Wassermann, Wyeth W., Houtkooper, Riekelt H., and van Kuilenburg, André B.P.

Abstract

The functionality of many cellular proteins depends on cofactors, yet they have only been implicated in a minority of Mendelian diseases. Here, we describe the first two inherited disorders of the cytosolic iron-sulfur protein assembly system

Published
2024
Full Text
View/download PDF

29. 6-Mercaptopurine Inhibits Atherosclerosis in Apolipoprotein E*3-Leiden Transgenic Mice Through Atheroprotective Actions on Monocytes and Macrophages

Author

Pols, Thijs W.H., primary, Bonta, Peter I., additional, Pires, Nuno M.M., additional, Otermin, Iker, additional, Vos, Mariska, additional, de Vries, Margreet R., additional, van Eijk, Marco, additional, Roelofsen, Jeroen, additional, Havekes, Louis M., additional, Quax, Paul H.A., additional, van Kuilenburg, André B.P., additional, de Waard, Vivian, additional, Pannekoek, Hans, additional, and de Vries, Carlie J.M., additional

Published
2010
Full Text
View/download PDF

31. Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure

Author

van KUILENBURG, André B.P., primary, DOBRITZSCH, Doreen, additional, MEINSMA, Rutger, additional, HAASJES, Janet, additional, WATERHAM, Hans R., additional, NOWACZYK, Malgorzata J.M., additional, MAROPOULOS, George D., additional, HEIN, Guido, additional, KALHOFF, Hermann, additional, KIRK, Jean M., additional, BAASKE, Holger, additional, AUKETT, Anne, additional, DULEY, John A., additional, WARD, Kate P., additional, LINDQVIST, Ylva, additional, and van GENNIP, Albert H., additional

Published
2002
Full Text
View/download PDF

34. Subunits VIIa,b,c of human cytochrome <em>c</em> oxidase.

Author

van Kuilenburg, André B.P., van Beeumen, Jozef J., van der Meer, Niek M., and Muijsers, Anton O.

Subjects
*CYTOCHROMES, *OXIDASES, *LIVER, *BILIARY tract, *AMINO acid sequence, *POLYACRYLAMIDE
Abstract

The N-terminal amino acid sequences and the electrophoretic mobilities of the subunits VIIa, VIIb and VIIc of cytochrome c oxidase purified from human heart were investigated and compared with those from human skeletal muscle and from bovine heart. In purified human heart cytochrome c oxidase, both so-called 'heart-type' and 'liver-type' isoforms of subunit VIIa were found. The first 30 residues of the N-terminal amino acid sequences of these 'heart-type' and 'liver-type' subunits VIIa showed nine differences. The two isoforms of subunit VIIa in human heart were present in almost equal amounts, in contrast to the situation in skeletal muscle, where the 'heart-type' subunit VIIa was predominant. Therefore, our results imply that in human heart a cytochrome c oxidase isoform pattern is present that differs from that found in skeletal muscle. Subunits VIIb and Vile purified from human heart oxidase proved to be very similar to their bovine heart counterparts. Our direct demonstration of the presence of subunit VIIb, the sequence of which has only recently been identified in the bovine heart enzyme, suggests that human cytochrome c oxidase also contains 13 subunits. We found no evidence for the presence of different isoforms of subunit VIIc in cytochrome c oxidase from human heart and skeletal muscle. We observed clear differences in the electrophoretic mobility of the subunits VIIa,b,c between bovine and human cytochrome c oxidase. On Tricine/glycerol/SDS/polyacrylamide gels the 'hearttype' and 'liver-type' subunits VIIa present in human heart cytochrome c oxidase migrated with almost the same electrophoretic mobility. Subunit VIIb migrated only slightly faster than subunit VIIa, whereas Vile proved to have the highest electrophoretic mobility on Tricine/SDS/glycerol/ polyacrylamide gels. Our findings may have implications for the elucidation of certain tissue-specific cytochrome c oxidase deficiencies in man. [ABSTRACT FROM AUTHOR]

Published
1992
Full Text
View/download PDF

35. Demonstration of two isoforms of subunit VIIa of cytochrome coxidase from human skeletal muscle

Author

Van Beeumen, Jozef J., Van Kuilenburg, André B.P., Van Bun, Stefaan, Van den Bogert, Coby, Tager, Joseph M., and Muijsers, Anton O.

Abstract

Two different isoforms of subunit VIIa have been found in cytochrome coxidase isolated from human skeletal muscle. The first 22 residues of the N‐terminal amino acid sequences showed 5 differences. Our results provide the first conclusive evidence for the existence of cytochrome coxida isoenzymes in man. Since the two cytochrome coxidase isoforms were both present in skeletal muscle tissue, though not necessarily in the same cell type, this suggests that human cytochrome coxidase isoforms are not strictly tissue‐specific. These findings may have important implications for the elucidation of genetic diseases in man in which a deficiency of cytochrome coxidase is restricted to certain tissues.

Published
1990
Full Text
View/download PDF

36. Human heart cytochrome coxidase subunit VIII Purification and determination of the complete amino acid sequence

Author

Van Kuilenburg, André B.P., Muijsers, Anton O., Demol, Hans, Dekker, Henk L., and Van Beeumen, Jozef J.

Abstract

Subunit VIII was purified from a preparation of the human heart cytochrome coxidase and its complete amino acid sequence was determined. The sequence proved to be much more related to that of the bovine liver oxidase subunit VIII than to that found in bovine heart. Our finding of a ‘liver-type’ subunit VIII in the human heart enzyme suggests that either there are no isoforms of human subunit VIII or the human oxidase does not show the type of tissue specificity that has been reported for the oxidase in other mammals.

Published
1988
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results