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394 results on '"van Faassen, Martijn"'

9. 11β-HSD1 inhibition in men mitigates prednisolone-induced adverse effects in a proof-of-concept randomised double-blind placebo-controlled trial

Author

Othonos, Nantia, Pofi, Riccardo, Arvaniti, Anastasia, White, Sarah, Bonaventura, Ilaria, Nikolaou, Nikolaos, Moolla, Ahmad, Marjot, Thomas, Stimson, Roland H., van Beek, André P., van Faassen, Martijn, Isidori, Andrea M., Bateman, Elizabeth, Sadler, Ross, Karpe, Fredrik, Stewart, Paul M., Webster, Craig, Duffy, Joanne, Eastell, Richard, Gossiel, Fatma, Cornfield, Thomas, Hodson, Leanne, Jane Escott, K., Whittaker, Andrew, Kirik, Ufuk, Coleman, Ruth L., Scott, Charles A. B., Milton, Joanne E., Agbaje, Olorunsola, Holman, Rury R., and Tomlinson, Jeremy W.

Published
2023
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10. The circadian clock remains intact, but with dampened hormonal output in heart failure

Author

Crnko, Sandra, Printezi, Markella I., Zwetsloot, Peter-Paul M., Leiteris, Laurynas, Lumley, Andrew I., Zhang, Lu, Ernens, Isabelle, Jansen, Tijn P.J., Homsma, Lilian, Feyen, Dries, van Faassen, Martijn, du Pré, Bastiaan C., Gaillard, Carlo A.J.M., Kemperman, Hans, Oerlemans, Marish I.F.J., Doevendans, Pieter A.F.M., May, Anne M., Zuithoff, Nicolaas P.A., Sluijter, Joost P.G., Devaux, Yvan, and van Laake, Linda W.

Published
2023
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13. 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. Systematic analysis of relationships between plasma branched-chain amino acid concentrations and cardiometabolic parameters: an association and Mendelian randomization study

Author

Doestzada, Marwah, Zhernakova, Daria V., C. L. van den Munckhof, Inge, Wang, Daoming, Kurilshikov, Alexander, Chen, Lianmin, Bloks, Vincent W., van Faassen, Martijn, Rutten, Joost H. W., Joosten, Leo A. B., Netea, Mihai G., Wijmenga, Cisca, Riksen, Niels P., Zhernakova, Alexandra, Kuipers, Folkert, and Fu, Jingyuan

Published
2022
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16. Exploring the kynurenine pathway in mild traumatic brain injury: A longitudinal study

Author

Visser, Koen, primary, Ciubotariu, Diana, additional, de Koning, Myrthe E., additional, Jacobs, Bram, additional, van Faassen, Martijn, additional, van der Ley, Claude, additional, Mayer, Andrew R., additional, Meier, Timothy B., additional, Bourgonje, Arno R., additional, Kema, Ido P., additional, van Goor, Harry, additional, van der Naalt, Joukje, additional, and van der Horn, Harm J., additional

Published
2024
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17. Hepatocyte-specific glucose-6-phosphatase deficiency disturbs platelet aggregation and decreases blood monocytes upon fasting-induced hypoglycemia

Author

La Rose, Anouk M., Bazioti, Venetia, Hoogerland, Joanne A., Svendsen, Arthur F., Groenen, Anouk G., van Faassen, Martijn, Rutten, Martijn G.S., Kloosterhuis, Niels J., Dethmers-Ausema, Bertien, Nijland, J. Hendrik, Mithieux, Gilles, Rajas, Fabienne, Kuipers, Folkert, Lukens, Michaël V., Soehnlein, Oliver, Oosterveer, Maaike H., and Westerterp, Marit

Published
2021
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19. Unraveling interindividual variation of trimethylamine N-oxide and its precursors at the population level

Author

Andreu-Sánchez, Sergio, Ahmad, Shahzad, Kurilshikov, Alexander, Beekman, Marian, Ghanbari, Mohsen, van Faassen, Martijn, van den Munckhof, Inge C.L., Steur, Marinka, Harms, Amy, Hankemeier, Thomas, Ikram, M. Arfan, Kavousi, Maryam, Voortman, Trudy, Kraaij, Robert, Netea, Mihai G., Rutten, Joost H.W., Riksen, Niels P., Zhernakova, Alexandra, Kuipers, Folkert, Slagboom, P. Eline, van Duijn, Cornelia M., Fu, Jingyuan, Vojinovic, Dina, Andreu-Sánchez, Sergio, Ahmad, Shahzad, Kurilshikov, Alexander, Beekman, Marian, Ghanbari, Mohsen, van Faassen, Martijn, van den Munckhof, Inge C.L., Steur, Marinka, Harms, Amy, Hankemeier, Thomas, Ikram, M. Arfan, Kavousi, Maryam, Voortman, Trudy, Kraaij, Robert, Netea, Mihai G., Rutten, Joost H.W., Riksen, Niels P., Zhernakova, Alexandra, Kuipers, Folkert, Slagboom, P. Eline, van Duijn, Cornelia M., Fu, Jingyuan, and Vojinovic, Dina

Abstract

Trimethylamine N-oxide (TMAO) is a circulating microbiome-derived metabolite implicated in the development of atherosclerosis and cardiovascular disease (CVD). We investigated whether plasma levels of TMAO, its precursors (betaine, carnitine, deoxycarnitine, choline), and TMAO-to-precursor ratios are associated with clinical outcomes, including CVD and mortality. This was followed by an in-depth analysis of their genetic, gut microbial, and dietary determinants. The analyses were conducted in five Dutch prospective cohort studies including 7834 individuals. To further investigate association results, Mendelian Randomization (MR) was also explored. We found only plasma choline levels (hazard ratio [HR] 1.17, [95% CI 1.07; 1.28]) and not TMAO to be associated with CVD risk. Our association analyses uncovered 10 genome-wide significant loci, including novel genomic regions for betaine (6p21.1, 6q25.3), choline (2q34, 5q31.1), and deoxycarnitine (10q21.2, 11p14.2) comprising several metabolic gene associations, for example, CPS1 or PEMT. Furthermore, our analyses uncovered 68 gut microbiota associations, mainly related to TMAO-to-precursors ratios and the Ruminococcaceae family, and 16 associations of food groups and metabolites including fish-TMAO, meat-carnitine, and plant-based food-betaine associations. No significant association was identified by the MR approach. Our analyses provide novel insights into the TMAO pathway, its determinants, and pathophysiological impact on the general population.

Published
2024

20. Reversal of insulin resistance in people with obesity by lifestyle‐induced weight loss does not impact the proportion of circulating 12α‐hydroxylated bile acids.

Author

Palmiotti, Anna, Berk, Kirsten A., Koehorst, Martijn, Hovingh, Milaine V., Pranger, Alle T., van Faassen, Martijn, de Boer, Jan Freark, van der Valk, Eline S., van Rossum, Elisabeth F. C., Mulder, Monique T., and Kuipers, Folkert

Subjects
GLYCEMIC control, INDUCTIVELY coupled plasma mass spectrometry, TYPE 2 diabetes, WEIGHT loss, INSULIN sensitivity
Abstract

Aim: Bile acids (BAs) are implicated in the pathogenesis of several metabolic syndrome‐related diseases, including insulin resistance (IR) and type 2 diabetes (T2D). It has been reported that IR and T2D are associated with an increased ratio of 12α/non‐12α‐hydroxylated BAs in the circulating BA pool. It is, however, unknown whether the improvement of insulin sensitivity inversely affects BA composition in humans. Therefore, we assessed whether lifestyle‐induced weight loss induces changes in BA metabolism in people with obesity, with or without T2D, and if these changes are associated with metabolic parameters. Materials and Methods: Individual BAs and C4 were quantified by ultra‐high‐performance liquid chromatography‐tandem mass spectrometry in plasma samples collected from two cohorts of people with obesity (OB) and with T2D and obesity (T2D), before and after a lifestyle intervention. Results: Lifestyle‐induced weight loss improved glycaemic control in both cohorts, with plasma BA concentrations not affected by the lifestyle interventions. The ratio of 12α/non‐12α‐hydroxylated BAs remained unchanged in OB (p =.178) and even slightly increased upon intervention in T2D (p =.0147). Plasma C4 levels were unaffected in OB participants (p =.20) but significantly reduced in T2D after intervention (p =.0003). There were no significant correlations between the ratio of 12α/non‐12α‐hydroxylated BAs and glucose, insulin, or homeostatic model assessment‐IR, nor in plasma triglycerides, low‐density lipoprotein cholesterol, lipoprotein (a) in the T2D cohort. Conclusions: Lifestyle‐induced weight loss did improve glycaemic control but did not affect BA concentrations. Improvements in insulin sensitivity were not associated with changes in BA parameters in people with obesity, with or without T2D. [ABSTRACT FROM AUTHOR]

Published
2024
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22. Unraveling interindividual variation of trimethylamine N‐oxide and its precursors at the population level

Author

Andreu‐Sánchez, Sergio, primary, Ahmad, Shahzad, additional, Kurilshikov, Alexander, additional, Beekman, Marian, additional, Ghanbari, Mohsen, additional, van Faassen, Martijn, additional, van den Munckhof, Inge C. L., additional, Steur, Marinka, additional, Harms, Amy, additional, Hankemeier, Thomas, additional, Ikram, M. Arfan, additional, Kavousi, Maryam, additional, Voortman, Trudy, additional, Kraaij, Robert, additional, Netea, Mihai G., additional, Rutten, Joost H. W., additional, Riksen, Niels P., additional, Zhernakova, Alexandra, additional, Kuipers, Folkert, additional, Slagboom, P. Eline, additional, van Duijn, Cornelia M., additional, Fu, Jingyuan, additional, and Vojinovic, Dina, additional

Published
2024
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31. Corrigendum to “A genome-wide association study of 24-hour urinary excretion of endocrine disrupting chemicals” [Environ. Int., A Genome-Wide Association Study of 24-Hour Urinary Excretion of Endocrine Disrupting Chemicals 183 (2024) 108396]

Author

Lu, Xueling, van der Meer, Thomas P., Kamali, Zoha, van Faassen, Martijn, Kema, Ido P., van Beek, André P., Xu, Xijin, Huo, Xia, Ani, Alireza, Nolte, Ilja M., Wolffenbuttel, Bruce H.R., van Vliet-Ostaptchouk, Jana V., and Snieder, Harold

Published
2024
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38. Supplementary Figures S1 - S2 from Measuring Residual Estrogen Receptor Availability during Fulvestrant Therapy in Patients with Metastatic Breast Cancer

Author

van Kruchten, Michel, primary, de Vries, Elisabeth G., primary, Glaudemans, Andor W., primary, van Lanschot, Meta C., primary, van Faassen, Martijn, primary, Kema, Ido P., primary, Brown, Myles, primary, Schröder, Carolien P., primary, de Vries, Erik F., primary, and Hospers, Geke A., primary

Published
2023
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42. Brain Kynurenine Pathway Metabolite Levels May Reflect Extent of Neuroinflammation in ALS, FTD and Early Onset AD

Author

Heylen, Annelies, Vermeiren, Yannick, Kema, Ido P., Van faassen, Martijn, Van der Ley, Claude, Van dam, Debby, De deyn, Peter P., Heylen, Annelies, Vermeiren, Yannick, Kema, Ido P., Van faassen, Martijn, Van der Ley, Claude, Van dam, Debby, and De deyn, Peter P.

Abstract

Objectives: Despite distinct clinical profiles, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) patients share a remarkable portion of pathological features, with a substantial percentage of patients displaying a mixed disease phenotype. Kynurenine metabolism seems to play a role in dementia-associated neuroinflammation and has been linked to both diseases. We aimed to explore dissimilarities in kynurenine pathway metabolites in these early onset neurodegenerative disorders in a brain-region-specific manner. Methods: Using liquid chromatography mass spectrometry (LC-MS/MS), kynurenine metabolite levels were determined in the brain samples of 98 healthy control subjects (n = 20) and patients with early onset Alzheimer’s disease (EOAD) (n = 23), ALS (n = 20), FTD (n = 24) or a mixed FTD–ALS (n = 11) disease profile. Results: Overall, the kynurenine pathway metabolite levels were significantly lower in patients with ALS compared to FTD, EOAD and control subjects in the frontal cortex, substantia nigra, hippocampus and neostriatum. Anthranilic acid levels and kynurenine-to-tryptophan ratios were consistently lower in all investigated brain regions in ALS compared to the other diagnostic groups. Conclusions: These results suggest that the contribution of kynurenine metabolism in neuroinflammation is lower in ALS than in FTD or EOAD and may also be traced back to differences in the age of onset between these disorders. Further research is necessary to confirm the potential of the kynurenine system as a therapeutic target in these early onset neurodegenerative disorders.

Published
2023

43. The circadian clock remains intact, but with dampened hormonal output in heart failure

Author

Cardiologie, Pathologie Bachelor Research hub, Onderzoek Precision medicine, Arts Assistenten Cardiologie, Cardiologie Arts-onderzoekers, DIGD-Medisch 1, Circulatory Health, CDL Cluster 24/7 centraal laboratorium, Other research (not in main researchprogram), Team Medisch, Regenerative Medicine and Stem Cells, Hart- en Vaatziekten Team A, Epi Kanker, Cancer, JC onderzoeksprogramma Kanker, Biostatistiek Onderzoek, Onderzoek Cardiovasculair Reg. Med., Crnko, Sandra, Printezi, Markella I., Zwetsloot, Peter Paul M., Leiteris, Laurynas, Lumley, Andrew I., Zhang, Lu, Ernens, Isabelle, Jansen, Tijn P.J., Homsma, Lilian, Feyen, Dries, van Faassen, Martijn, du Pré, Bastiaan C., Gaillard, Carlo A.J.M., Kemperman, Hans, Oerlemans, Marish I.F.J., Doevendans, Pieter A.F.M., May, Anne M., Zuithoff, Nicolaas P.A., Sluijter, Joost P.G., Devaux, Yvan, van Laake, Linda W., Cardiologie, Pathologie Bachelor Research hub, Onderzoek Precision medicine, Arts Assistenten Cardiologie, Cardiologie Arts-onderzoekers, DIGD-Medisch 1, Circulatory Health, CDL Cluster 24/7 centraal laboratorium, Other research (not in main researchprogram), Team Medisch, Regenerative Medicine and Stem Cells, Hart- en Vaatziekten Team A, Epi Kanker, Cancer, JC onderzoeksprogramma Kanker, Biostatistiek Onderzoek, Onderzoek Cardiovasculair Reg. Med., Crnko, Sandra, Printezi, Markella I., Zwetsloot, Peter Paul M., Leiteris, Laurynas, Lumley, Andrew I., Zhang, Lu, Ernens, Isabelle, Jansen, Tijn P.J., Homsma, Lilian, Feyen, Dries, van Faassen, Martijn, du Pré, Bastiaan C., Gaillard, Carlo A.J.M., Kemperman, Hans, Oerlemans, Marish I.F.J., Doevendans, Pieter A.F.M., May, Anne M., Zuithoff, Nicolaas P.A., Sluijter, Joost P.G., Devaux, Yvan, and van Laake, Linda W.

Published
2023

46. Gut Microbial Associations to Plasma Metabolites Linked to Cardiovascular Phenotypes and Risk: A Cross-Sectional Study

Author

Kurilshikov, Alexander, van den Munckhof, Inge C.L., Chen, Lianmin, Bonder, Marc J., Schraa, Kiki, Rutten, Joost H.W., Riksen, Niels P., de Graaf, Jacqueline, Oosting, Marije, Sanna, Serena, Joosten, Leo A.B., van der Graaf, Marinette, Brand, Tessa, Koonen, Debby P.Y., van Faassen, Martijn, Slagboom, P. Eline, Xavier, Ramnik J., Kuipers, Folkert, Hofker, Marten H., Wijmenga, Cisca, Netea, Mihai G., Zhernakova, Alexandra, and Fu, Jingyuan

Published
2019
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47. A Proinflammatory Gut Microbiota Increases Systemic Inflammation and Accelerates Atherosclerosis

Author

Brandsma, Eelke, Kloosterhuis, Niels J., Koster, Mirjam, Dekker, Daphne C., Gijbels, Marion J.J., van der Velden, Saskia, Ríos-Morales, Melany, van Faassen, Martijn J.R., Loreti, Marco G., de Bruin, Alain, Fu, Jingyuan, Kuipers, Folkert, Bakker, Barbara M., Westerterp, Marit, de Winther, Menno P.J., Hofker, Marten H., van de Sluis, Bart, and Koonen, Debby P.Y.

Published
2019
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