Search

Your search keyword '"Pras‐Raves, Mia L."' showing total 50 results
Start Over Author "Pras‐Raves, Mia L."
50 results on '"Pras‐Raves, Mia L."'

1. A conserved complex lipid signature marks human muscle aging and responds to short-term exercise

Author

Janssens, Georges E., Molenaars, Marte, Herzog, Katharina, Grevendonk, Lotte, Remie, Carlijn M. E., Vervaart, Martin A. T., Elfrink, Hyung L., Wever, Eric J. M., Schomakers, Bauke V., Denis, Simone W., Waterham, Hans R., Pras-Raves, Mia L., van Weeghel, Michel, van Kampen, Antoine H. C., Tammaro, Alessandra, Butter, Loes M., van der Rijt, Sanne, Florquin, Sandrine, Jongejan, Aldo, Moerland, Perry D., Hoeks, Joris, Schrauwen, Patrick, Vaz, Frédéric M., and Houtkooper, Riekelt H.

Published
2024
Full Text
View/download PDF

3. CIAO1 and MMS19 deficiency: 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., Wasserman, Wyeth W., Houtkooper, Riekelt H., and van Kuilenburg, André B.P.

Published
2024
Full Text
View/download PDF

5. CIAO1 and MMS19 de fi ciency : A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

Author

van Karnebeek, Clara D. M., Tarailo-Graovac, Maja, Leen, Rene, Meinsma, Rutger, Correard, Solenne, Jansen-Meijer, Judith, Prykhozhij, Sergey V., Pena, Izabella A., Ban, Kevin, Schock, Sarah, Saxena, Vishal, Pras-Raves, Mia L., Drogemoller, 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, Michel A., Riva, Daria, Garavaglia, Barbara, Moeschler, John B., Filiano, James J., Ekker, Marc, Berman, Jason N., Dyment, David, Vaz, Frederic M., Wassermann, Wyeth W., Houtkooper, Riekelt H., van Kuilenburg, Andre B. P., van Karnebeek, Clara D. M., Tarailo-Graovac, Maja, Leen, Rene, Meinsma, Rutger, Correard, Solenne, Jansen-Meijer, Judith, Prykhozhij, Sergey V., Pena, Izabella A., Ban, Kevin, Schock, Sarah, Saxena, Vishal, Pras-Raves, Mia L., Drogemoller, 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, Michel A., Riva, Daria, Garavaglia, Barbara, Moeschler, John B., Filiano, James J., Ekker, Marc, Berman, Jason N., Dyment, David, Vaz, Frederic M., Wassermann, Wyeth W., Houtkooper, Riekelt H., and van Kuilenburg, Andre B. P.

Abstract

Purpose: 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 2 inherited disorders of the cytosolic iron-sulfur protein assembly system. Methods: Genetic testing via genome sequencing was applied to identify the underlying disease cause in 3 patients with microcephaly, congenital brain malformations, progressive developmental and neurologic impairments, recurrent infections, and a fatal outcome. Studies in patient-derived skin fibroblasts and zebrafish models were performed to investigate the biochemical and cellular consequences. Results: Metabolic analysis showed elevated uracil and thymine levels in body fluids but no pathogenic variants in DPYD, encoding dihydropyrimidine dehydrogenase. Genome sequencing identified compound heterozygosity in 2 patients for missense variants in CIAO1, encoding cytosolic iron-sulfur assembly component 1, and homozygosity for an in-frame 3-nucleotide deletion in MMS19, encoding the MMS19 homolog, cytosolic iron-sulfur assembly component, in the third patient. Profound alterations in the proteome, metabolome, and lipidome were observed in patient-derived fibroblasts. We confirmed the detrimental effect of deficiencies in CIAO1 and MMS19 in zebrafish models. Conclusion: A general failure of cytosolic and nuclear iron-sulfur protein maturation caused pleiotropic effects. The critical function of the cytosolic iron-sulfur protein assembly machinery for antiviral host defense may well explain the recurrent severe infections occurring in our patients. (c) 2024 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

Published
2024
Full Text
View/download PDF

7. A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases

Author

Willems, Anke P., primary, van der Ham, Maria, additional, Schiebergen-Bronkhorst, Birgit G. M., additional, van Aalderen, Mirjam, additional, de Barse, Martina M. J., additional, De Gruyter, Fini E., additional, van Hoek, Ilja N., additional, Pras-Raves, Mia L., additional, de Sain-van der Velden, Monique G. M., additional, Prinsen, Hubertus C. M. T., additional, Verhoeven-Duif, Nanda M., additional, and Jans, Judith J. M., additional

Published
2023
Full Text
View/download PDF

9. Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasis

Author

Darwisch, Warda, von Spangenberg, Marino, Lehmann, Jana, Singin, Öznur, Deubert, Geralt, Kühl, Sandra, Roos, Johannes, Horstmann, Heinz, Körber, Christoph, Hoppe, Simone, Zheng, Hongwei, Kuner, Thomas, Pras-Raves, Mia L., van Kampen, Antoine H. C., Waterham, Hans R., Schwarz, Kathrin V., Okun, Jürgen G., Schultz, Christian, Vaz, Frédéric M., and Islinger, Markus

Published
2020
Full Text
View/download PDF

12. Alterations in ether lipid metabolism and the consequences for the mouse lipidome

Author

Lackner, Katharina, primary, Sailer, Sabrina, additional, van Klinken, Jan-Bert, additional, Wever, Eric, additional, Pras-Raves, Mia L., additional, Dane, Adrie D., additional, Honsho, Masanori, additional, Abe, Yuichi, additional, Keller, Markus A., additional, Golderer, Georg, additional, Werner-Felmayer, Gabriele, additional, Fujiki, Yukio, additional, Vaz, Frédéric M., additional, Werner, Ernst R., additional, and Watschinger, Katrin, additional

Published
2023
Full Text
View/download PDF

13. A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases

Author

Genetica Sectie Metabole Diagnostiek, Genetica Lab. Metabole Diagnostiek, Genetica Medische Informatica, Child Health, Genetica, Cancer, Brain, Willems, Anke P, van der Ham, Maria, Schiebergen-Bronkhorst, Birgit G M, van Aalderen, Mirjam, de Barse, Martina M J, De Gruyter, Fini E, van Hoek, Ilja N, Pras-Raves, Mia L, de Sain-van der Velden, Monique G M, Prinsen, Hubertus C M T, Verhoeven-Duif, Nanda M, Jans, Judith J M, Genetica Sectie Metabole Diagnostiek, Genetica Lab. Metabole Diagnostiek, Genetica Medische Informatica, Child Health, Genetica, Cancer, Brain, Willems, Anke P, van der Ham, Maria, Schiebergen-Bronkhorst, Birgit G M, van Aalderen, Mirjam, de Barse, Martina M J, De Gruyter, Fini E, van Hoek, Ilja N, Pras-Raves, Mia L, de Sain-van der Velden, Monique G M, Prinsen, Hubertus C M T, Verhoeven-Duif, Nanda M, and Jans, Judith J M

Published
2023

15. Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways

Author

Hermans, Merel E., primary, van Weeghel, Michel, additional, Vaz, Frédéric M., additional, Ferdinandusse, Sacha, additional, Hollak, Carla E. M., additional, Huidekoper, Hidde H., additional, Janssen, Mirian C. H., additional, van Kuilenburg, André B. P., additional, Pras‐Raves, Mia L., additional, Wamelink, Mirjam M. C., additional, Wanders, Ronald J. A., additional, Welsink‐Karssies, Mendy M., additional, and Bosch, Annet M., additional

Published
2022
Full Text
View/download PDF

16. Adaptations of the 3T3-L1 adipocyte lipidome to defective ether lipid catabolism upon alkylglycerol monooxygenase knockdown

Author

Sailer, Sabrina, primary, Lackner, Katharina, additional, Pras-Raves, Mia L., additional, Wever, Eric J.M., additional, van Klinken, Jan B., additional, Dane, Adriaan D., additional, Geley, Stephan, additional, Koch, Jakob, additional, Golderer, Georg, additional, Werner-Felmayer, Gabriele, additional, Keller, Markus A., additional, Zwerschke, Werner, additional, Vaz, Frédéric M., additional, Werner, Ernst R., additional, and Watschinger, Katrin, additional

Published
2022
Full Text
View/download PDF

17. Multi-omics in classical galactosemia:Evidence for the involvement of multiple metabolic pathways

Author

Hermans, Merel E., van Weeghel, Michel, Vaz, Frederic M., Ferdinandusse, Sacha, Hollak, Carla E. M., Huidekoper, Hidde H., Janssen, Mirian C. H., van Kuilenburg, Andre B. P., Pras-Raves, Mia L., Wamelink, Mirjam M. C., Wanders, Ronald J. A., Welsink-Karssies, Mendy M., Bosch, Annet M., Hermans, Merel E., van Weeghel, Michel, Vaz, Frederic M., Ferdinandusse, Sacha, Hollak, Carla E. M., Huidekoper, Hidde H., Janssen, Mirian C. H., van Kuilenburg, Andre B. P., Pras-Raves, Mia L., Wamelink, Mirjam M. C., Wanders, Ronald J. A., Welsink-Karssies, Mendy M., and Bosch, Annet M.

Abstract

Classical galactosemia (CG) is one of the more frequent inborn errors of metabolism affecting approximately 1:40.000 people. Despite a life-saving galactose-restricted diet, patients develop highly variable long-term complications including intellectual disability and movement disorders. The pathophysiology of these complications is still poorly understood and development of new therapies is hampered by a lack of valid prognostic biomarkers. Multi-omics approaches may discover new biomarkers and improve prediction of patient outcome. In the current study, (semi-)targeted mass-spectrometry based metabolomics and lipidomics were performed in erythrocytes of 40 patients with both classical and variant phenotypes and 39 controls. Lipidomics did not show any significant changes or deficiencies. The metabolomics analysis revealed that CG does not only compromise the Leloir pathway, but also involves other metabolic pathways including glycolysis, the pentose phosphate pathway, and nucleotide metabolism in the erythrocyte. Moreover, the energy status of the cell appears to be compromised, with significantly decreased levels of ATP and ADP. This possibly is the consequence of two different mechanisms: impaired formation of ATP from ADP possibly due to reduced flux though the glycolytic pathway and trapping of phosphate in galactose-1-phosphate (Gal-1P) which accumulates in CG. Our findings are in line with the current notion that the accumulation of Gal-1P plays a key role in the pathophysiology of CG not only by depletion of intracellular phosphate levels but also by decreasing metabolite abundance downstream in the glycolytic pathway and affecting other pathways. New therapeutic options for CG could be directed towards the restoration of intracellular phosphate homeostasis.

Published
2022

19. Circadian misalignment disturbs the skeletal muscle lipidome in healthy young men

Author

Harmsen, Jan‐Frieder, primary, van Polanen, Nynke, additional, van Weeghel, Michel, additional, Wefers, Jakob, additional, Hoeks, Joris, additional, Vaz, Frédéric M., additional, Pras‐Raves, Mia L., additional, van Kampen, Antoine H. C., additional, Schaart, Gert, additional, van Moorsel, Dirk, additional, Hansen, Jan, additional, Hesselink, Matthijs K. C., additional, Houtkooper, Riekelt H., additional, and Schrauwen, Patrick, additional

Published
2021
Full Text
View/download PDF

20. Metabolomics and lipidomics in Caenorhabditis elegans using a single-sample preparation

Author

Molenaars, Marte, primary, Schomakers, Bauke V., additional, Elfrink, Hyung L., additional, Gao, Arwen W., additional, Vervaart, Martin A. T., additional, Pras-Raves, Mia L., additional, Luyf, Angela C., additional, Smith, Reuben L., additional, Sterken, Mark G., additional, Kammenga, Jan E., additional, van Kampen, Antoine H. C., additional, Janssens, Georges E., additional, Vaz, Frédéric M., additional, van Weeghel, Michel, additional, and Houtkooper, Riekelt H., additional

Published
2021
Full Text
View/download PDF

21. Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots

Author

Metabole ziekten onderzoek 1, Genetica Lab. Metabole Diagnostiek, DBG Metabole en Endocriene Ziekten, Genetica Sectie Metabole Diagnostiek, Metabole ziekten patientenzorg, Child Health, Knottnerus, Suzan J.G., Pras-Raves, Mia L., van der Ham, Maria, Ferdinandusse, Sacha, Houtkooper, Riekelt H., Schielen, Peter C.J.I., Visser, Gepke, Wijburg, Frits A., de Sain-van der Velden, Monique G.M., Metabole ziekten onderzoek 1, Genetica Lab. Metabole Diagnostiek, DBG Metabole en Endocriene Ziekten, Genetica Sectie Metabole Diagnostiek, Metabole ziekten patientenzorg, Child Health, Knottnerus, Suzan J.G., Pras-Raves, Mia L., van der Ham, Maria, Ferdinandusse, Sacha, Houtkooper, Riekelt H., Schielen, Peter C.J.I., Visser, Gepke, Wijburg, Frits A., and de Sain-van der Velden, Monique G.M.

Published
2020

22. Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity

Author

Metabole ziekten onderzoek 1, Cancer, Genetica Sectie Metabole Diagnostiek, CMM Groep Burgering, Child Health, MDL patientenzorg, CMM Sectie Genomics and Bioinformatics, Cluster C, Metabole ziekten patientenzorg, Rumping, Lynne, Pras-Raves, Mia L, Gerrits, Johan, Tang, Yuen Fung, Willemsen, Marcel A, Houwen, Roderick H J, van Haaften, Gijs, van Hasselt, Peter M, Verhoeven-Duif, Nanda M, Jans, Judith J M, Metabole ziekten onderzoek 1, Cancer, Genetica Sectie Metabole Diagnostiek, CMM Groep Burgering, Child Health, MDL patientenzorg, CMM Sectie Genomics and Bioinformatics, Cluster C, Metabole ziekten patientenzorg, Rumping, Lynne, Pras-Raves, Mia L, Gerrits, Johan, Tang, Yuen Fung, Willemsen, Marcel A, Houwen, Roderick H J, van Haaften, Gijs, van Hasselt, Peter M, Verhoeven-Duif, Nanda M, and Jans, Judith J M

Published
2020

24. Author Reply to Peer Reviews of Metabolomics and lipidomics in C. elegans using a single sample preparation

Author

Houtkooper, Riekelt H., primary, van Weeghel, Michel, additional, Vaz, Frédéric M., additional, Janssens, Georges E., additional, van Kampen, Antoine H. C., additional, Kammenga, Jan E., additional, Sterken, Mark G., additional, Smith, Reuben L., additional, Luyf, Angela C., additional, Pras-Raves, Mia L., additional, Vervaart, Martin A.T., additional, Gao, Arwen W., additional, Elfrink, Hyung L., additional, Schomakers, Bauke V., additional, and Molenaars, Marte, additional

Published
2020
Full Text
View/download PDF

25. Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome

Author

Staps, Pippa, primary, Rizzo, William B., additional, Vaz, Frédéric M., additional, Bugiani, Marianna, additional, Giera, Martin, additional, Heijs, Bram, additional, Kampen, Antoine H. C., additional, Pras‐Raves, Mia L., additional, Breur, Marjolein, additional, Groen, Annemieke, additional, Ferdinandusse, Sacha, additional, Graaf, Marinette, additional, Van Goethem, Gert, additional, Lammens, Martin, additional, Wevers, Ron A., additional, and Willemsen, Michèl A. A. P., additional

Published
2020
Full Text
View/download PDF

26. Metabolomics and lipidomics in C. elegans using a single sample preparation

Author

Molenaars, Marte, primary, Schomakers, Bauke V., additional, Elfrink, Hyung L., additional, Gao, Arwen W., additional, Vervaart, Martin A.T., additional, Pras-Raves, Mia L., additional, Luyf, Angela C., additional, Smith, Reuben L., additional, Sterken, Mark G., additional, Kammenga, Jan E., additional, van Kampen, Antoine H. C., additional, Janssens, Georges E., additional, Vaz, Frédéric M., additional, van Weeghel, Michel, additional, and Houtkooper, Riekelt H., additional

Published
2020
Full Text
View/download PDF

28. Impact of NBS for VLCAD deficiency on genetic, enzymatic and clinical outcomes

Author

Bleeker, Jeannette C, Kok, Irene L, Ferdinandusse, Sacha, van der Pol, W Ludo, Cuppen, Inge, Bosch, Annet M, Langeveld, Mirjam, Derks, Terry G J, Williams, Monique, de Vries, Maaike, Mulder, Margot F, Rubio Gozalbo, Estela, van der Velden, Monique G M de Sain, Rennings, Alexander J, Schielen, Peter J C I, Dekkers, Eugenie, Houtkooper, Riekelt H, Waterham, Hans R, Pras-Raves, Mia L, Wanders, Ronald J A, van Hasselt, Peter M, Schoenmakers, Marja, Wijburg, Frits A, Visser, Gepke, and Center for Liver, Digestive and Metabolic Diseases (CLDM)

Subjects
hypoglycemia, newborn screening, very-long-chain acyl-CoA dehydrogenase deficiency, embryonic structures, food and beverages, cardiomyopathy, fatty acid oxidation, myopathy
Abstract

BACKGROUND: Most infants with very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) identified by newborn screening (NBS) are asymptomatic at the time of diagnosis and remain asymptomatic. If this outcome is due to prompt diagnosis and initiation of therapy, or because of identification of individuals with biochemical abnormalities who will never develop symptoms, is unclear. METHODS: A 10 year longitudinal national cohort study of genetically confirmed VLCADD patients born before and after introduction of NBS. Main outcome measures were clinical outcome parameters, ACADVL gene analysis, VLCAD activity and overall capacity of long-chain fatty acid oxidation (LC-FAO flux) in lymphocytes and cultured skin fibroblasts. FINDINGS: Median VLCAD activity in lymphocytes of 54 patients, 21 diagnosed pre-NBS and 33 by NBS was respectively 5.4% (95% CI 4.0-8.3%) and 12.6% (95% CI 10.7-17.7%; p10% 7 out of 12 diagnosed pre-NBS versus none by NBS experienced hypoglycemic events. INTERPRETATIONS: NBS has a clear beneficial effect on the prevention of hypoglycemic events in patients with some residual enzyme activity, but does not prevent hypoglycemia nor cardiac complications in patients with very low residual enzyme activity. The effect of NBS on prevalence and prevention of myopathy-related complications remains unclear. TAKE-HOME MESSAGE: NBS has a clear beneficial effect on the prevention of hypoglycemic events in patients with some residual enzyme activity, but does not prevent hypoglycemia nor cardiac complications in patients with very low residual enzyme activity. This article is protected by copyright. All rights reserved.

Published
2019

29. Aqueous Humor Analysis Identifies Higher Branched Chain Amino Acid Metabolism as a Marker for Human Leukocyte Antigen-B27 Acute Anterior Uveitis and Disease Activity

Author

Verhagen, Fleurieke H., Stigter, Edwin C.A., Pras-Raves, Mia L., Burgering, Boudewijn M.T., Imhof, Saskia M., Radstake, Timothy R.D.J., de Boer, Joke H., Kuiper, Jonas J.W., Verhagen, Fleurieke H., Stigter, Edwin C.A., Pras-Raves, Mia L., Burgering, Boudewijn M.T., Imhof, Saskia M., Radstake, Timothy R.D.J., de Boer, Joke H., and Kuiper, Jonas J.W.

Published
2019

30. Direct infusion based metabolomics identifies metabolic disease in patients’ dried blood spots and plasma

Author

Haijes, Hanneke A., Willemsen, Marcel, van der Ham, Maria, Gerrits, Johan, Pras-Raves, Mia L., Prinsen, Hubertus C.M.T., van Hasselt, Peter M., de Sain-Van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., Jans, Judith J.M., Haijes, Hanneke A., Willemsen, Marcel, van der Ham, Maria, Gerrits, Johan, Pras-Raves, Mia L., Prinsen, Hubertus C.M.T., van Hasselt, Peter M., de Sain-Van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., and Jans, Judith J.M.

Published
2019

31. Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Author

Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, van der Pol, W. Ludo, Cuppen, Inge, Bosch, Annet M., Langeveld, Mirjam, Derks, Terry G.J., Williams, Monique, de Vries, Maaike, Mulder, Margot F., Gozalbo, Estela R., de Sain-van der Velden, Monique G.M., Rennings, Alexander J., Schielen, Peter J.C.I., Dekkers, Eugenie, Houtkooper, Riekelt H., Waterham, Hans R., Pras-Raves, Mia L., Wanders, Ronald J.A., van Hasselt, Peter M., Schoenmakers, Marja, Wijburg, Frits A., Visser, Gepke, Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, van der Pol, W. Ludo, Cuppen, Inge, Bosch, Annet M., Langeveld, Mirjam, Derks, Terry G.J., Williams, Monique, de Vries, Maaike, Mulder, Margot F., Gozalbo, Estela R., de Sain-van der Velden, Monique G.M., Rennings, Alexander J., Schielen, Peter J.C.I., Dekkers, Eugenie, Houtkooper, Riekelt H., Waterham, Hans R., Pras-Raves, Mia L., Wanders, Ronald J.A., van Hasselt, Peter M., Schoenmakers, Marja, Wijburg, Frits A., and Visser, Gepke

Published
2019

32. Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Author

Metabole ziekten onderzoek 1, UMC Utrecht, Afdeling Dietetiek, ZL Neuromusculaire Ziekten Medisch, Brain, ZL Kinder Ner en Nec Medisch, Genetica Sectie Metabole Diagnostiek, Child Health, Cluster C, Metabole ziekten patientenzorg, Kinderbewegingszorg patientenzorg, Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, van der Pol, W. Ludo, Cuppen, Inge, Bosch, Annet M., Langeveld, Mirjam, Derks, Terry G.J., Williams, Monique, de Vries, Maaike, Mulder, Margot F., Gozalbo, Estela R., de Sain-van der Velden, Monique G.M., Rennings, Alexander J., Schielen, Peter J.C.I., Dekkers, Eugenie, Houtkooper, Riekelt H., Waterham, Hans R., Pras-Raves, Mia L., Wanders, Ronald J.A., van Hasselt, Peter M., Schoenmakers, Marja, Wijburg, Frits A., Visser, Gepke, Metabole ziekten onderzoek 1, UMC Utrecht, Afdeling Dietetiek, ZL Neuromusculaire Ziekten Medisch, Brain, ZL Kinder Ner en Nec Medisch, Genetica Sectie Metabole Diagnostiek, Child Health, Cluster C, Metabole ziekten patientenzorg, Kinderbewegingszorg patientenzorg, Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, van der Pol, W. Ludo, Cuppen, Inge, Bosch, Annet M., Langeveld, Mirjam, Derks, Terry G.J., Williams, Monique, de Vries, Maaike, Mulder, Margot F., Gozalbo, Estela R., de Sain-van der Velden, Monique G.M., Rennings, Alexander J., Schielen, Peter J.C.I., Dekkers, Eugenie, Houtkooper, Riekelt H., Waterham, Hans R., Pras-Raves, Mia L., Wanders, Ronald J.A., van Hasselt, Peter M., Schoenmakers, Marja, Wijburg, Frits A., and Visser, Gepke

Published
2019

33. Aqueous Humor Analysis Identifies Higher Branched Chain Amino Acid Metabolism as a Marker for Human Leukocyte Antigen-B27 Acute Anterior Uveitis and Disease Activity

Author

Polisecretariaat Oogheelkunde, Infection & Immunity, CMM Groep Burgering, Cancer, Genetica Sectie Metabole Diagnostiek, CMM Sectie Molecular Cancer Research, Translationele immunologie, Other research (not in main researchprogram), Verhagen, Fleurieke H., Stigter, Edwin C.A., Pras-Raves, Mia L., Burgering, Boudewijn M.T., Imhof, Saskia M., Radstake, Timothy R.D.J., de Boer, Joke H., Kuiper, Jonas J.W., Polisecretariaat Oogheelkunde, Infection & Immunity, CMM Groep Burgering, Cancer, Genetica Sectie Metabole Diagnostiek, CMM Sectie Molecular Cancer Research, Translationele immunologie, Other research (not in main researchprogram), Verhagen, Fleurieke H., Stigter, Edwin C.A., Pras-Raves, Mia L., Burgering, Boudewijn M.T., Imhof, Saskia M., Radstake, Timothy R.D.J., de Boer, Joke H., and Kuiper, Jonas J.W.

Published
2019

34. Direct infusion based metabolomics identifies metabolic disease in patients’ dried blood spots and plasma

Author

Genetica Lab. Metabole Diagnostiek, Genetica Sectie Metabole Diagnostiek, Child Health, DBG Metabole en Endocriene Ziekten, Metabole ziekten patientenzorg, Cluster C, Haijes, Hanneke A., Willemsen, Marcel, van der Ham, Maria, Gerrits, Johan, Pras-Raves, Mia L., Prinsen, Hubertus C.M.T., van Hasselt, Peter M., de Sain-Van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., Jans, Judith J.M., Genetica Lab. Metabole Diagnostiek, Genetica Sectie Metabole Diagnostiek, Child Health, DBG Metabole en Endocriene Ziekten, Metabole ziekten patientenzorg, Cluster C, Haijes, Hanneke A., Willemsen, Marcel, van der Ham, Maria, Gerrits, Johan, Pras-Raves, Mia L., Prinsen, Hubertus C.M.T., van Hasselt, Peter M., de Sain-Van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., and Jans, Judith J.M.

Published
2019

35. Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Author

Bleeker, Jeannette C., primary, Kok, Irene L., additional, Ferdinandusse, Sacha, additional, van der Pol, W. Ludo, additional, Cuppen, Inge, additional, Bosch, Annet M., additional, Langeveld, Mirjam, additional, Derks, Terry G. J., additional, Williams, Monique, additional, de Vries, Maaike, additional, Mulder, Margot F., additional, Gozalbo, Estela R., additional, de Sain‐van der Velden, Monique G. M., additional, Rennings, Alexander J., additional, Schielen, Peter J. C. I., additional, Dekkers, Eugenie, additional, Houtkooper, Riekelt H., additional, Waterham, Hans R., additional, Pras‐Raves, Mia L., additional, Wanders, Ronald J. A., additional, van Hasselt, Peter M., additional, Schoenmakers, Marja, additional, Wijburg, Frits A., additional, and Visser, Gepke, additional

Published
2019
Full Text
View/download PDF

37. Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.

Author

Vaz, Frédéric M, McDermott, John H, Alders, Mariëlle, Wortmann, Saskia B, Kölker, Stefan, Pras-Raves, Mia L, Vervaart, Martin A T, Lenthe, Henk van, Luyf, Angela C M, Elfrink, Hyung L, Metcalfe, Kay, Cuvertino, Sara, Clayton, Peter E, Yarwood, Rebecca, Lowe, Martin P, Lovell, Simon, Rogers, Richard C, Study, Deciphering Developmental Disorders, Kampen, Antoine H C van, and Ruiter, Jos P N

Subjects
BIOSYNTHESIS, FAMILIAL spastic paraplegia, CEREBRAL atrophy, MEMBRANE lipids, NEURAL development, DEVELOPMENTAL delay
Abstract

CTP:phosphoethanolamine cytidylyltransferase (ET), encoded by PCYT2, is the rate-limiting enzyme for phosphatidylethanolamine synthesis via the CDP-ethanolamine pathway. Phosphatidylethanolamine is one of the most abundant membrane lipids and is particularly enriched in the brain. We identified five individuals with biallelic PCYT2 variants clinically characterized by global developmental delay with regression, spastic para- or tetraparesis, epilepsy and progressive cerebral and cerebellar atrophy. Using patient fibroblasts we demonstrated that these variants are hypomorphic, result in altered but residual ET protein levels and concomitant reduced enzyme activity without affecting mRNA levels. The significantly better survival of hypomorphic CRISPR-Cas9 generated pcyt2 zebrafish knockout compared to a complete knockout, in conjunction with previously described data on the Pcyt2 mouse model, indicates that complete loss of ET function may be incompatible with life in vertebrates. Lipidomic analysis revealed profound lipid abnormalities in patient fibroblasts impacting both neutral etherlipid and etherphospholipid metabolism. Plasma lipidomics studies also identified changes in etherlipids that have the potential to be used as biomarkers for ET deficiency. In conclusion, our data establish PCYT2 as a disease gene for a new complex hereditary spastic paraplegia and confirm that etherlipid homeostasis is important for the development and function of the brain. [ABSTRACT FROM AUTHOR]

Published
2019
Full Text
View/download PDF

38. A Decade of Newborn Screening for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD): Benefits, Complications and the Need for Long-Term Follow-Up

Author

Bleeker, Jeannette C., primary, Kok, Irene L., additional, Ferdinandusse, Sacha, additional, van der Pol, W. Ludo, additional, Cuppen, Inge, additional, Bosch, Annet M., additional, Langeveld, Mirjam, additional, Derks, Terry G. J., additional, Williams, Monique, additional, de Vries, Maaike, additional, Mulder, Margot F, additional, Gozalbo, Estela Rubio, additional, de Sain-van der Velden, Monique G.M., additional, Rennings, Alexander J., additional, Schielen, Peter J.C.I., additional, Dekkers, Eugenie, additional, Houtkooper, Riekelt H., additional, Waterham, Hans R., additional, Pras-Raves, Mia L., additional, Wanders, Ronald J.A., additional, van Hasselt, Peter M., additional, Schoenmakers, Marja, additional, Wijburg, Frits A., additional, and Visser, Gepke, additional

Published
2018
Full Text
View/download PDF

39. Plasma lipidomics as a diagnostic tool for peroxisomal disorders

Author

Herzog, Katharina, primary, Pras-Raves, Mia L., additional, Ferdinandusse, Sacha, additional, Vervaart, Martin A. T., additional, Luyf, Angela C. M., additional, van Kampen, Antoine H. C., additional, Wanders, Ronald J. A., additional, Waterham, Hans R., additional, and Vaz, Frédéric M., additional

Published
2017
Full Text
View/download PDF

41. Vitamin B6 is essential for serine de novo biosynthesis

Author

Genetica Lab. Metabole Diagnostiek, Child Health, DBG Metabole en Endocriene Ziekten, Cancer, CMM, Ramos, Rúben J., Pras-Raves, Mia L., Gerrits, Johan, van der Ham, Maria, Willemsen, Marcel, Prinsen, Hubertus, Burgering, Boudewijn, Jans, Judith J., Verhoeven-Duif, Nanda M., Genetica Lab. Metabole Diagnostiek, Child Health, DBG Metabole en Endocriene Ziekten, Cancer, CMM, Ramos, Rúben J., Pras-Raves, Mia L., Gerrits, Johan, van der Ham, Maria, Willemsen, Marcel, Prinsen, Hubertus, Burgering, Boudewijn, Jans, Judith J., and Verhoeven-Duif, Nanda M.

Published
2017

42. Quantification of metabolites in dried blood spots by direct infusion high resolution mass spectrometry

Author

Genetica Sectie Metabole Diagnostiek, Child Health, DBG Metabole en Endocriene Ziekten, de Sain-van der Velden, Monique G M, van der Ham, Maria, Gerrits, Johan, Prinsen, Hubertus C M T, Willemsen, Marcel, Pras-Raves, Mia L, Jans, Judith J, Verhoeven-Duif, Nanda M, Genetica Sectie Metabole Diagnostiek, Child Health, DBG Metabole en Endocriene Ziekten, de Sain-van der Velden, Monique G M, van der Ham, Maria, Gerrits, Johan, Prinsen, Hubertus C M T, Willemsen, Marcel, Pras-Raves, Mia L, Jans, Judith J, and Verhoeven-Duif, Nanda M

Published
2017

44. A sensitive mass spectrometry platform identifies metabolic changes of life history traits in C. elegans

Author

Gao, Arwen W., primary, Chatzispyrou, Iliana A., additional, Kamble, Rashmi, additional, Liu, Yasmine J., additional, Herzog, Katharina, additional, Smith, Reuben L., additional, van Lenthe, Henk, additional, Vervaart, Martin A. T., additional, van Cruchten, Arno, additional, Luyf, Angela C., additional, van Kampen, Antoine, additional, Pras-Raves, Mia L., additional, Vaz, Frédéric M., additional, and Houtkooper, Riekelt H., additional

Published
2017
Full Text
View/download PDF

45. 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

47. Plasma lipidomics as a diagnostic tool for peroxisomal disorders.

Author

Herzog, Katharina, Pras-Raves, Mia L., Ferdinandusse, Sacha, Vervaart, Martin A. T., Luyf, Angela C. M., van Kampen, Antoine H. C., Wanders, Ronald J. A., Waterham, Hans R., and Vaz, Frédéric M.

Abstract

Peroxisomes are ubiquitous cell organelles that play an important role in lipid metabolism. Accordingly, peroxisomal disorders, including the peroxisome biogenesis disorders and peroxisomal single-enzyme deficiencies, are associated with aberrant lipid metabolism. Lipidomics is an emerging tool for diagnosis, disease-monitoring, identifying lipid biomarkers, and studying the underlying pathophysiology in disorders of lipid metabolism. In this study, we demonstrate the potential of lipidomics for the diagnosis of peroxisomal disorders using plasma samples from patients with different types of peroxisomal disorders. We show that the changes in the plasma profiles of phospholipids, di- and triglycerides, and cholesterol esters correspond with the characteristic metabolite abnormalities that are currently used in the metabolic screening for peroxisomal disorders. The lipidomics approach, however, gives a much more detailed overview of the metabolic changes that occur in the lipidome. Furthermore, we identified novel unique lipid species for specific peroxisomal diseases that are candidate biomarkers. The results presented in this paper show the power of lipidomics approaches to enable the specific diagnosis of different peroxisomal disorders. [ABSTRACT FROM AUTHOR]

Published
2018
Full Text
View/download PDF

48. Adaptations of the 3T3-L1 adipocyte lipidome to defective ether lipid catabolism upon Agmo knockdown.

Author

Sailer S, Lackner K, Pras-Raves ML, Wever EJM, van Klinken JB, Dane AD, Geley S, Koch J, Golderer G, Werner-Felmayer G, Keller MA, Zwerschke W, Vaz FM, Werner ER, and Watschinger K

Subjects
3T3-L1 Cells, Adipocytes metabolism, Adipogenesis, Animals, Cell Differentiation, Ethers, Lipid Metabolism genetics, Mice, Phospholipids metabolism, Triglycerides metabolism, Ether metabolism, Lipidomics
Abstract

Little is known about the physiological role of alkylglycerol monooxygenase (AGMO), the only enzyme capable of cleaving the 1-O-alkyl ether bond of ether lipids. Expression and enzymatic activity of this enzyme can be detected in a variety of tissues including adipose tissue. This labile lipolytic membrane-bound protein uses tetrahydrobiopterin as a cofactor, and mice with reduced tetrahydrobiopterin levels have alterations in body fat distribution and blood lipid concentrations. In addition, manipulation of AGMO in macrophages led to significant changes in the cellular lipidome, and alkylglycerolipids, the preferred substrates of AGMO, were shown to accumulate in mature adipocytes. Here, we investigated the roles of AGMO in lipid metabolism by studying 3T3-L1 adipogenesis. AGMO activity was induced over 11 days using an adipocyte differentiation protocol. We show that RNA interference-mediated knockdown of AGMO did not interfere with adipocyte differentiation or affect lipid droplet formation. Furthermore, lipidomics revealed that plasmalogen phospholipids were preferentially accumulated upon Agmo knockdown, and a significant shift toward longer and more polyunsaturated acyl side chains of diacylglycerols and triacylglycerols could be detected by mass spectrometry. Our results indicate that alkylglycerol catabolism has an influence not only on ether-linked species but also on the degree of unsaturation in the massive amounts of triacylglycerols formed during in vitro 3T3-L1 adipocyte differentiation., Competing Interests: Conflict of interest The authors declare that they have no conflicts of interest with the contents of this article., (Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.)

Published
2022
Full Text
View/download PDF

49. Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.

Author

Vaz FM, McDermott JH, Alders M, Wortmann SB, Kölker S, Pras-Raves ML, Vervaart MAT, van Lenthe H, Luyf ACM, Elfrink HL, Metcalfe K, Cuvertino S, Clayton PE, Yarwood R, Lowe MP, Lovell S, Rogers RC, van Kampen AHC, Ruiter JPN, Wanders RJA, Ferdinandusse S, van Weeghel M, Engelen M, and Banka S

Subjects
Adolescent, Alleles, Animals, Atrophy, Brain pathology, Child, Child, Preschool, Developmental Disabilities genetics, Epilepsy genetics, Female, Gene Knockout Techniques, Genetic Variation, Humans, Lipidomics, Male, Mice, RNA Nucleotidyltransferases deficiency, Young Adult, Zebrafish, Phosphatidylethanolamines biosynthesis, RNA Nucleotidyltransferases genetics, Spastic Paraplegia, Hereditary genetics
Abstract

CTP:phosphoethanolamine cytidylyltransferase (ET), encoded by PCYT2, is the rate-limiting enzyme for phosphatidylethanolamine synthesis via the CDP-ethanolamine pathway. Phosphatidylethanolamine is one of the most abundant membrane lipids and is particularly enriched in the brain. We identified five individuals with biallelic PCYT2 variants clinically characterized by global developmental delay with regression, spastic para- or tetraparesis, epilepsy and progressive cerebral and cerebellar atrophy. Using patient fibroblasts we demonstrated that these variants are hypomorphic, result in altered but residual ET protein levels and concomitant reduced enzyme activity without affecting mRNA levels. The significantly better survival of hypomorphic CRISPR-Cas9 generated pcyt2 zebrafish knockout compared to a complete knockout, in conjunction with previously described data on the Pcyt2 mouse model, indicates that complete loss of ET function may be incompatible with life in vertebrates. Lipidomic analysis revealed profound lipid abnormalities in patient fibroblasts impacting both neutral etherlipid and etherphospholipid metabolism. Plasma lipidomics studies also identified changes in etherlipids that have the potential to be used as biomarkers for ET deficiency. In conclusion, our data establish PCYT2 as a disease gene for a new complex hereditary spastic paraplegia and confirm that etherlipid homeostasis is important for the development and function of the brain., (© The Author(s) (2019). Published by Oxford University Press on behalf of the Guarantors of Brain.)

Published
2019
Full Text
View/download PDF

50. Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma.

Author

Haijes HA, Willemsen M, Van der Ham M, Gerrits J, Pras-Raves ML, Prinsen HCMT, Van Hasselt PM, De Sain-van der Velden MGM, Verhoeven-Duif NM, and Jans JJM

Abstract

In metabolic diagnostics, there is an emerging need for a comprehensive test to acquire a complete view of metabolite status. Here, we describe a non-quantitative direct-infusion high-resolution mass spectrometry (DI-HRMS) based metabolomics method and evaluate the method for both dried blood spots (DBS) and plasma. 110 DBS of 42 patients harboring 23 different inborn errors of metabolism (IEM) and 86 plasma samples of 38 patients harboring 21 different IEM were analyzed using DI-HRMS. A peak calling pipeline developed in R programming language provided Z-scores for ~1875 mass peaks corresponding to ~3835 metabolite annotations (including isomers) per sample. Based on metabolite Z-scores, patients were assigned a 'most probable diagnosis' by an investigator blinded for the known diagnoses of the patients. Based on DBS sample analysis, 37/42 of the patients, corresponding to 22/23 IEM, could be correctly assigned a 'most probable diagnosis'. Plasma sample analysis, resulted in a correct 'most probable diagnosis' in 32/38 of the patients, corresponding to 19/21 IEM. The added clinical value of the method was illustrated by a case wherein DI-HRMS metabolomics aided interpretation of a variant of unknown significance (VUS) identified by whole-exome sequencing. In summary, non-quantitative DI-HRMS metabolomics in DBS and plasma is a very consistent, high-throughput and nonselective method for investigating the metabolome in genetic disease.

Published
2019
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results