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9. Western diet triggers cardiac dysfunction in heterozygous Mybpc3-targeted knock-in mice: A two-hit model of hypertrophic cardiomyopathy

Author

Nollet, Edgar E., Algül, Sila, Goebel, Max, Schlossarek, Saskia, van der Wel, Nicole N., Jans, Judith J.M., van de Wiel, Mark A., Knol, Jaco C., Pham, Thang V., Piersma, Sander R., de Goeij-de Haas, Richard, Hermans, Jill, van Klinken, Jan Bert, van Weeghel, Michel, Houtkooper, Riekelt H., Carrier, Lucie, Jimenez, Connie R., Kuster, Diederik W.D., and van der Velden, Jolanda

Published
2023
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11. Viral, Bacterial, Metabolic, and Autoimmune Causes of Severe Acute Encephalopathy in Sub-Saharan Africa: A Multicenter Cohort Study

Author

Edridge, Arthur, Namazzi, Ruth, Tebulo, Andrew, Mfizi, Anan, Deijs, Martin, Koekkoek, Sylvie, de Wever, Bob, van der Ende, Arie, Umiwana, Jeanine, de Jong, Menno D., Jans, Judith, Verhoeven-Duif, Nanda, Titulaer, Maarten, van Karnebeek, Clara, Seydel, Karl, Taylor, Terrie, Asiimwe-Kateera, Brenda, van der Hoek, Lia, Kabayiza, Jean-Claude, Mallewa, Macpherson, Idro, Richard, Boele van Hensbroek, Michael, and van Woensel, Job B.M.

Published
2023
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14. PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

Author

Johnstone, Devon L, Al-Shekaili, Hilal H, Tarailo-Graovac, Maja, Wolf, Nicole I, Ivy, Autumn S, Demarest, Scott, Roussel, Yann, Ciapaite, Jolita, van Roermund, Carlo WT, Kernohan, Kristin D, Kosuta, Ceres, Ban, Kevin, Ito, Yoko, McBride, Skye, Al-Thihli, Khalid, Abdelrahim, Rana A, Koul, Roshan, Al Futaisi, Amna, Haaxma, Charlotte A, Olson, Heather, Sigurdardottir, Laufey Yr, Arnold, Georgianne L, Gerkes, Erica H, Boon, M, Heiner-Fokkema, M Rebecca, Noble, Sandra, Bosma, Marjolein, Jans, Judith, Koolen, David A, Kamsteeg, Erik-Jan, Drögemöller, Britt, Ross, Colin J, Majewski, Jacek, Cho, Megan T, Begtrup, Amber, Wasserman, Wyeth W, Bui, Tuan, Brimble, Elise, Violante, Sara, Houten, Sander M, Wevers, Ron A, van Faassen, Martijn, Kema, Ido P, Lepage, Nathalie, Lines, Matthew A, Dyment, David A, Wanders, Ronald JA, Verhoeven-Duif, Nanda, Ekker, Marc, Boycott, Kym M, Friedman, Jan M, Pena, Izabella A, and van Karnebeek, Clara DM

Subjects
Epilepsy, Neurosciences, Brain Disorders, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, Animals, Disease Models, Animal, Female, HEK293 Cells, Humans, Male, Phenotype, Proteins, Pyridoxal Phosphate, Pyridoxine, Vitamin B 6, Vitamin B 6 Deficiency, Zebrafish, PLPBP, PROSC, epilepsy, pyridoxine, vitamin B6-responsive epilepsy, Care4Rare Canada Consortium, PLPBP, PROSC, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

Biallelic pathogenic variants in PLPBP (formerly called PROSC) have recently been shown to cause a novel form of vitamin B6-dependent epilepsy, the pathophysiological basis of which is poorly understood. When left untreated, the disease can progress to status epilepticus and death in infancy. Here we present 12 previously undescribed patients and six novel pathogenic variants in PLPBP. Suspected clinical diagnoses prior to identification of PLPBP variants included mitochondrial encephalopathy (two patients), folinic acid-responsive epilepsy (one patient) and a movement disorder compatible with AADC deficiency (one patient). The encoded protein, PLPHP is believed to be crucial for B6 homeostasis. We modelled the pathogenicity of the variants and developed a clinical severity scoring system. The most severe phenotypes were associated with variants leading to loss of function of PLPBP or significantly affecting protein stability/PLP-binding. To explore the pathophysiology of this disease further, we developed the first zebrafish model of PLPHP deficiency using CRISPR/Cas9. Our model recapitulates the disease, with plpbp-/- larvae showing behavioural, biochemical, and electrophysiological signs of seizure activity by 10 days post-fertilization and early death by 16 days post-fertilization. Treatment with pyridoxine significantly improved the epileptic phenotype and extended lifespan in plpbp-/- animals. Larvae had disruptions in amino acid metabolism as well as GABA and catecholamine biosynthesis, indicating impairment of PLP-dependent enzymatic activities. Using mass spectrometry, we observed significant B6 vitamer level changes in plpbp-/- zebrafish, patient fibroblasts and PLPHP-deficient HEK293 cells. Additional studies in human cells and yeast provide the first empirical evidence that PLPHP is localized in mitochondria and may play a role in mitochondrial metabolism. These models provide new insights into disease mechanisms and can serve as a platform for drug discovery.

Published
2019

15. The Alkaline Phosphatase (ALPL) Locus Is Associated with B6 Vitamer Levels in CSF and Plasma

Author

Loohuis, Loes M Olde, Albersen, Monique, de Jong, Simone, Wu, Timothy, Luykx, Jurjen J, Jans, Judith JM, Verhoeven-Duif, Nanda M, and Ophoff, Roel A

Subjects
Biological Sciences, Genetics, Nutrition, Human Genome, 1.1 Normal biological development and functioning, Underpinning research, Aetiology, 2.1 Biological and endogenous factors, genome wide association study, vitamin B6, cerebrospinal fluid, plasma
Abstract

The active form of vitamin B6, pyridoxal phosphate (PLP), is essential for human metabolism. The brain is dependent on vitamin B6 for its neurotransmitter balance. To obtain insight into the genetic determinants of vitamin B6 homeostasis, we conducted a genome-wide association study (GWAS) of the B6 vitamers pyridoxal (PL), PLP and the degradation product of vitamin B6, pyridoxic acid (PA). We collected a unique sample set of cerebrospinal fluid (CSF) and plasma from the same healthy human subjects of Dutch ancestry (n = 493) and included concentrations and ratios in and between these body fluids in our analysis. Based on a multivariate joint analysis of all B6 vitamers and their ratios, we identified a genome-wide significant association at a locus on chromosome 1 containing the ALPL (alkaline phosphatase) gene (minimal p = 7.89 × 10-10, rs1106357, minor allele frequency (MAF) = 0.46), previously associated with vitamin B6 levels in blood. Subjects homozygous for the minor allele showed a 1.4-times-higher ratio between PLP and PL in plasma, and even a 1.6-times-higher ratio between PLP and PL in CSF than subjects homozygous for the major allele. In addition, we observed a suggestive association with the CSF:plasma ratio of PLP on chromosome 15 (minimal p = 7.93 × 10-7, and MAF = 0.06 for rs28789220). Even though this finding is not reaching genome-wide significance, it highlights the potential of our experimental setup for studying transport and metabolism across the blood⁻CSF barrier. This GWAS of B6 vitamers identifies alkaline phosphatase as a key regulator in human vitamin B6 metabolism in CSF as well as plasma. Furthermore, our results demonstrate the potential of genetic studies of metabolites in plasma and CSF to elucidate biological aspects underlying metabolite generation, transport and degradation.

Published
2019

16. The Alkaline Phosphatase (ALPL) Locus Is Associated with B6 Vitamer Levels in CSF and Plasma.

Author

Loohuis, Loes M, Albersen, Monique, de Jong, Simone, Wu, Timothy, Luykx, Jurjen J, Jans, Judith JM, Verhoeven-Duif, Nanda M, and Ophoff, Roel A

Subjects
cerebrospinal fluid, genome wide association study, plasma, vitamin B6, Genetics
Abstract

The active form of vitamin B6, pyridoxal phosphate (PLP), is essential for human metabolism. The brain is dependent on vitamin B6 for its neurotransmitter balance. To obtain insight into the genetic determinants of vitamin B6 homeostasis, we conducted a genome-wide association study (GWAS) of the B6 vitamers pyridoxal (PL), PLP and the degradation product of vitamin B6, pyridoxic acid (PA). We collected a unique sample set of cerebrospinal fluid (CSF) and plasma from the same healthy human subjects of Dutch ancestry (n = 493) and included concentrations and ratios in and between these body fluids in our analysis. Based on a multivariate joint analysis of all B6 vitamers and their ratios, we identified a genome-wide significant association at a locus on chromosome 1 containing the ALPL (alkaline phosphatase) gene (minimal p = 7.89 × 10-10, rs1106357, minor allele frequency (MAF) = 0.46), previously associated with vitamin B6 levels in blood. Subjects homozygous for the minor allele showed a 1.4-times-higher ratio between PLP and PL in plasma, and even a 1.6-times-higher ratio between PLP and PL in CSF than subjects homozygous for the major allele. In addition, we observed a suggestive association with the CSF:plasma ratio of PLP on chromosome 15 (minimal p = 7.93 × 10-7, and MAF = 0.06 for rs28789220). Even though this finding is not reaching genome-wide significance, it highlights the potential of our experimental setup for studying transport and metabolism across the blood⁻CSF barrier. This GWAS of B6 vitamers identifies alkaline phosphatase as a key regulator in human vitamin B6 metabolism in CSF as well as plasma. Furthermore, our results demonstrate the potential of genetic studies of metabolites in plasma and CSF to elucidate biological aspects underlying metabolite generation, transport and degradation.

Published
2018

20. Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

Author

Ghosh, Shereen G., Lee, Sangmoon, Fabunan, Rudy, Chai, Guoliang, Zaki, Maha S., Abdel-Salam, Ghada, Sultan, Tipu, Ben-Omran, Tawfeg, Alvi, Javeria Raza, McEvoy-Venneri, Jennifer, Stanley, Valentina, Patel, Aakash, Ross, Danica, Ding, Jeffrey, Jain, Mohit, Pan, Daqiang, Lübbert, Philipp, Kammerer, Bernd, Wiedemann, Nils, Verhoeven-Duif, Nanda M., Jans, Judith J., Murphy, David, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Ibrahim, Khalid, Waters, Elizabeth R., Maroofian, Reza, and Gleeson, Joseph G.

Published
2021
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24. Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases

Author

Genetica, Genetica Sectie Metabole Diagnostiek, Brain, Child Health, van Karnebeek, Clara D.M., O’Donnell-Luria, Anne, Baynam, Gareth, Baudot, Anaïs, Groza, Tudor, Jans, Judith J.M., Lassmann, Timo, Letinturier, Mary Catherine V., Montgomery, Stephen B., Robinson, Peter N., Sansen, Stefaan, Mehrian-Shai, Ruty, Steward, Charles, Kosaki, Kenjiro, Durao, Patricia, Sadikovic, Bekim, Genetica, Genetica Sectie Metabole Diagnostiek, Brain, Child Health, van Karnebeek, Clara D.M., O’Donnell-Luria, Anne, Baynam, Gareth, Baudot, Anaïs, Groza, Tudor, Jans, Judith J.M., Lassmann, Timo, Letinturier, Mary Catherine V., Montgomery, Stephen B., Robinson, Peter N., Sansen, Stefaan, Mehrian-Shai, Ruty, Steward, Charles, Kosaki, Kenjiro, Durao, Patricia, and Sadikovic, Bekim

Published
2024

25. Inborn errors of the malate aspartate shuttle – Update on patients and cellular models

Author

Genetica, Genetica Sectie Metabole Diagnostiek, Cancer, Brain, Child Health, Koch, Jasmine, Broeks, Melissa H., Gautschi, Matthias, Jans, Judith, Laemmle, Alexander, Genetica, Genetica Sectie Metabole Diagnostiek, Cancer, Brain, Child Health, Koch, Jasmine, Broeks, Melissa H., Gautschi, Matthias, Jans, Judith, and Laemmle, Alexander

Published
2024

26. UPLC-Orbitrap-HRMS application for analysis of plasma sterols

Author

Genetica Lab. Metabole Diagnostiek, Genetica Sectie Metabole Diagnostiek, Child Health, Metabole ziekten patientenzorg, Infection & Immunity, Regenerative Medicine and Stem Cells, Brain, van der Ham, Maria, Gerrits, Johan, Prinsen, Berthil, van Hasselt, Peter, Fuchs, Sabine, Jans, Judith, Willems, Anke, de Sain-van der Velden, Monique, Genetica Lab. Metabole Diagnostiek, Genetica Sectie Metabole Diagnostiek, Child Health, Metabole ziekten patientenzorg, Infection & Immunity, Regenerative Medicine and Stem Cells, Brain, van der Ham, Maria, Gerrits, Johan, Prinsen, Berthil, van Hasselt, Peter, Fuchs, Sabine, Jans, Judith, Willems, Anke, and de Sain-van der Velden, Monique

Published
2024

27. Metabolic blood profile and response to treatment with the pyruvate kinase activator mitapivat in patients with sickle cell disease

Author

CDL Rode cel, Unit Opleiding Aios, Genetica Sectie Metabole Diagnostiek, Poli Van Creveldkliniek Medisch, Circulatory Health, CDL Research analisten, Haematologie patientenzorg, Child Health, Infection & Immunity, Centraal Diagnostisch Laboratorium, Brain, CDL Cluster Speciële Diagnostiek, van Dijk, Myrthe J, Ruiter, Titine J J, van der Veen, Sigrid, Rab, Minke A E, van Oirschot, Brigitte A, Bos, Jennifer, Derichs, Cleo, Rijneveld, Anita W, Cnossen, Marjon H, Nur, Erfan, Biemond, Bart J, Bartels, Marije, Schutgens, Roger E G, van Solinge, Wouter W, Jans, Judith J M, van Beers, Eduard J, van Wijk, Richard, CDL Rode cel, Unit Opleiding Aios, Genetica Sectie Metabole Diagnostiek, Poli Van Creveldkliniek Medisch, Circulatory Health, CDL Research analisten, Haematologie patientenzorg, Child Health, Infection & Immunity, Centraal Diagnostisch Laboratorium, Brain, CDL Cluster Speciële Diagnostiek, van Dijk, Myrthe J, Ruiter, Titine J J, van der Veen, Sigrid, Rab, Minke A E, van Oirschot, Brigitte A, Bos, Jennifer, Derichs, Cleo, Rijneveld, Anita W, Cnossen, Marjon H, Nur, Erfan, Biemond, Bart J, Bartels, Marije, Schutgens, Roger E G, van Solinge, Wouter W, Jans, Judith J M, van Beers, Eduard J, and van Wijk, Richard

Published
2024

28. Metabolic blood profile and response to treatment with the pyruvate kinase activator mitapivat in patients with sickle cell disease

Author

van Dijk, Myrthe J., Ruiter, Titine J.J., van der Veen, Sigrid, Rab, Minke A.E., van Oirschot, Brigitte A., Bos, Jennifer, Derichs, Cleo, Rijneveld, Anita W., Cnossen, Marjon H., Nur, Erfan, Biemond, Bart J., Bartels, Marije, Schutgens, Roger E.G., van Solinge, Wouter W., Jans, Judith J.M., van Beers, Eduard J., van Wijk, Richard, van Dijk, Myrthe J., Ruiter, Titine J.J., van der Veen, Sigrid, Rab, Minke A.E., van Oirschot, Brigitte A., Bos, Jennifer, Derichs, Cleo, Rijneveld, Anita W., Cnossen, Marjon H., Nur, Erfan, Biemond, Bart J., Bartels, Marije, Schutgens, Roger E.G., van Solinge, Wouter W., Jans, Judith J.M., van Beers, Eduard J., and van Wijk, Richard

Abstract

Mitapivat is an investigational, oral, small-molecule allosteric activator of pyruvate kinase (PK). PK is a regulatory glycolytic enzyme that is key in providing the red blood cell (RBC) with sufficient amounts of adenosine triphosphate (ATP). In sickle cell disease (SCD), decreased 2,3-DPG levels increase the oxygen affinity of hemoglobin, thereby preventing deoxygenation and polymerization of sickle hemoglobin. The PK activator mitapivat has been shown to decrease levels of 2,3-DPG and increase levels of ATP in RBCs in patients with SCD. In this phase 2, investigator-initiated, open-label study (https://www.clinicaltrialsregister.eu/ NL8517; EudraCT 2019-003438-18), untargeted metabolomics was used to explore the overall metabolic effects of 8-week treatment with mitapivat in the dose-finding period. In total, 1773 unique metabolites were identified in dried blood spots of whole blood from ten patients with SCD and 42 healthy controls (HCs). The metabolic phenotype of patients with SCD revealed alterations in 139/1773 (7.8%) metabolites at baseline when compared to HCs (false discovery rate-adjusted p < 0.05), including increases of (derivatives of) polyamines, purines, and acyl carnitines. Eight-week treatment with mitapivat in nine patients with SCD altered 85/1773 (4.8%) of the total metabolites and 18/139 (12.9%) of the previously identified altered metabolites in SCD (unadjusted p < 0.05). Effects were observed on a broad spectrum of metabolites and were not limited to glycolytic intermediates. Our results show the relevance of metabolic profiling in SCD, not only to unravel potential pathophysiological pathways and biomarkers in multisystem diseases but also to determine the effect of treatment.

Published
2024

29. Direct Infusion Mass Spectrometry to Rapidly Map Metabolic Flux of Substrates Labeled with Stable Isotopes

Author

Genetica Sectie Metabole Diagnostiek, CMM Groep Kalkhoven, Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Genetica, Cancer, Brain, Meijer, Nils W F, Zwakenberg, Susan, Gerrits, Johan, Westland, Denise, Ardisasmita, Arif I, Fuchs, Sabine A, Verhoeven-Duif, Nanda M, Jans, Judith J M, Zwartkruis, Fried J T, Genetica Sectie Metabole Diagnostiek, CMM Groep Kalkhoven, Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Genetica, Cancer, Brain, Meijer, Nils W F, Zwakenberg, Susan, Gerrits, Johan, Westland, Denise, Ardisasmita, Arif I, Fuchs, Sabine A, Verhoeven-Duif, Nanda M, Jans, Judith J M, and Zwartkruis, Fried J T

Published
2024

30. A novel composition of endogenous metabolic modulators improves red blood cell properties in sickle cell disease

Author

CDL Rode cel, Unit Opleiding Aios, Cancer, Genetica Sectie Metabole Diagnostiek, CDL Research analisten, Centraal Diagnostisch Laboratorium, Brain, Child Health, Poli Van Creveldkliniek Medisch, CDL Cluster Speciële Diagnostiek, Circulatory Health, van Dijk, Myrthe J, Traets, Marissa J M, van Oirschot, Brigitte A, Ruiter, Titine J J, de Wilde, Jonathan R A, Bos, Jennifer, van Solinge, Wouter W, Koziel, Margaret J, Jans, Judith J M, Wani, Revati, van Beers, Eduard J, van Wijk, Richard, Rab, Minke A E, CDL Rode cel, Unit Opleiding Aios, Cancer, Genetica Sectie Metabole Diagnostiek, CDL Research analisten, Centraal Diagnostisch Laboratorium, Brain, Child Health, Poli Van Creveldkliniek Medisch, CDL Cluster Speciële Diagnostiek, Circulatory Health, van Dijk, Myrthe J, Traets, Marissa J M, van Oirschot, Brigitte A, Ruiter, Titine J J, de Wilde, Jonathan R A, Bos, Jennifer, van Solinge, Wouter W, Koziel, Margaret J, Jans, Judith J M, Wani, Revati, van Beers, Eduard J, van Wijk, Richard, and Rab, Minke A E

Published
2024

31. Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

Author

van Karnebeek, Clara D.M., Ramos, Rúben J., Wen, Xiao-Yan, Tarailo-Graovac, Maja, Gleeson, Joseph G., Skrypnyk, Cristina, Brand-Arzamendi, Koroboshka, Karbassi, Farhad, Issa, Mahmoud Y., van der Lee, Robin, Drögemöller, Britt I., Koster, Janet, Rousseau, Justine, Campeau, Philippe M., Wang, Youdong, Cao, Feng, Li, Meng, Ruiter, Jos, Ciapaite, Jolita, Kluijtmans, Leo A.J., Willemsen, Michel A.A.P., Jans, Judith J., Ross, Colin J., Wintjes, Liesbeth T., Rodenburg, Richard J., Huigen, Marleen C.D.G., Jia, Zhengping, Waterham, Hans R., Wasserman, Wyeth W., Wanders, Ronald J.A., Verhoeven-Duif, Nanda M., Zaki, Maha S., and Wevers, Ron A.

Published
2019
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37. PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening

Author

Achleitner, Melanie T., primary, Jans, Judith J. M., additional, Ebner, Laura, additional, Spenger, Johannes, additional, Konstantopoulou, Vassiliki, additional, Feichtinger, René G., additional, Brugger, Karin, additional, Mayr, Doris, additional, Wevers, Ron A., additional, Thiel, Christian, additional, Wortmann, Saskia B., additional, and Mayr, Johannes A., additional

Published
2023
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38. 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
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39. Inflammation-induced mitochondrial and metabolic disturbances in sensory neurons control the switch from acute to chronic pain

Author

Willemen, Hanneke L.D.M., primary, Santos Ribeiro, Patrícia Silva, additional, Broeks, Melissa, additional, Meijer, Nils, additional, Versteeg, Sabine, additional, Tiggeler, Annefien, additional, de Boer, Teun P., additional, Małecki, Jędrzej M., additional, Falnes, Pål Ø., additional, Jans, Judith, additional, and Eijkelkamp, Niels, additional

Published
2023
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42. Direct Infusion Mass Spectrometry to Rapidly Map Metabolic Flux of Substrates Labeled with Stable Isotopes.

Author

Meijer, Nils W. F., Zwakenberg, Susan, Gerrits, Johan, Westland, Denise, Ardisasmita, Arif I., Fuchs, Sabine A., Verhoeven-Duif, Nanda M., Jans, Judith J. M., and Zwartkruis, Fried J. T.

Subjects
MASS spectrometry, STABLE isotopes, BIOCHEMICAL substrates, KREBS cycle, RADIOLABELING
Abstract

Direct infusion–high-resolution mass spectrometry (DI-HRMS) allows for rapid profiling of complex mixtures of metabolites in blood, cerebrospinal fluid, tissue samples and cultured cells. Here, we present a DI-HRMS method suitable for the rapid determination of metabolic fluxes of isotopically labeled substrates in cultured cells and organoids. We adapted an automated annotation pipeline by selecting labeled adducts that best represent the majority of 13C and/or 15N-labeled glycolytic and tricarboxylic acid cycle intermediates as well as a number of their derivatives. Furthermore, valine, leucine and several of their degradation products were included. We show that DI-HRMS can determine anticipated and unanticipated alterations in metabolic fluxes along these pathways that result from the genetic alteration of single metabolic enzymes, including pyruvate dehydrogenase (PDHA1) and glutaminase (GLS). In addition, it can precisely pinpoint metabolic adaptations to the loss of methylmalonyl-CoA mutase in patient-derived liver organoids. Our results highlight the power of DI-HRMS in combination with stable isotopically labeled compounds as an efficient screening method for fluxomics. [ABSTRACT FROM AUTHOR]

Published
2024
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43. A New Approach for Fast Metabolic Diagnostics in CMAMMA

Author

de Sain-van der Velden, Monique G. M., van der Ham, Maria, Jans, Judith J., Visser, Gepke, Prinsen, Hubertus C. M. T., Verhoeven-Duif, Nanda M., van Gassen, Koen L. I., van Hasselt, Peter M., Baumgartner, Matthias R., Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, Zschocke, Johannes, Series editor, and Baumgartner, Matthias, editor

Published
2016
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44. The malate-aspartate shuttle is important for de novo serine biosynthesis

Author

Broeks, Melissa H., primary, Meijer, Nils W.F., additional, Westland, Denise, additional, Bosma, Marjolein, additional, Gerrits, Johan, additional, German, Hannah M., additional, Ciapaite, Jolita, additional, van Karnebeek, Clara D.M., additional, Wanders, Ronald J.A., additional, Zwartkruis, Fried J.T., additional, Verhoeven-Duif, Nanda M., additional, and Jans, Judith J.M., additional

Published
2023
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46. P717: AG946, A PYRUVATE KINASE (PK) ACTIVATOR IMPROVES PK PROPERTIES AND RED BLOOD CELL (RBC) METABOLISM UPON EX VIVO TREATMENT OF RBCS FROM PATIENTS WITH MYELODYSPLASTIC SYNDROMES

Author

de Wilde, Jonathan, primary, Ruiter, Titine, additional, van Oirschot, Brigitte, additional, Jans, Judith, additional, Dang, Lenny, additional, Wind-Rotolo, Megan, additional, van Solinge, Wouter, additional, van Rhenen, Anna, additional, Van Wijk, Richard, additional, and Rab, Minke, additional

Published
2023
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47. P1424: ONE-YEAR FOLLOW-UP OF A PHASE 2 STUDY OF MITAPIVAT, AN ORAL PYRUVATE KINASE ACTIVATOR, FOR THE TREATMENT OF SICKLE CELL DISEASE

Author

van Dijk, Myrthe, primary, Rab, Minke, additional, van Oirschot, Brigitte, additional, Bos, Jennifer, additional, Derichs, Cleo, additional, Rijneveld, Anita, additional, Cnossen, Marjon, additional, Nur, Erfan, additional, Biemond, Bart, additional, Bartels, Marije, additional, Jans, Judith, additional, van Solinge, Wouter, additional, Schutgens, Roger, additional, Van Wijk, Richard, additional, and van Beers, Eduard, additional

Published
2023
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49. PB2518: OPTIMIZING THE DETECTION OF 2,3- DIPHOSPHOGLYCERATE IN DRIED BLOOD SPOTS OF PATIENTS WITH SICKLE CELL DISEASE: UNTARGETED METABOLOMICS WITHIN THE GENOMED4ALL PROJECT

Author

van der Veen, Sigrid, primary, van Dijk, Myrthe, additional, Biemond, Bart, additional, Cnossen, Marjon, additional, Colombatti, Raffaella, additional, Jans, Judith, additional, Mañú Pereira, Maria Del Mar, additional, Verhoeven, Nanda, additional, Van Wijk, Richard, additional, and van Beers, Eduard, additional

Published
2023
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50. Identification of human D lactate dehydrogenase deficiency

Author

Monroe, Glen R., van Eerde, Albertien M., Tessadori, Federico, Duran, Karen J., Savelberg, Sanne M. C., van Alfen, Johanna C., Terhal, Paulien A., van der Crabben, Saskia N., Lichtenbelt, Klaske D., Fuchs, Sabine A., Gerrits, Johan, van Roosmalen, Markus J., van Gassen, Koen L., van Aalderen, Mirjam, Koot, Bart G., Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J., Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G. M., Knoers, Nine V., Bakkers, Jeroen, Verhoeven-Duif, Nanda M., van Haaften, Gijs, and Jans, Judith J.

Published
2019
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