Zobrazeno 1 - 10
of 1 162
pro vyhledávání: '"Nanda M"'
Autor:
Nils W. F. Meijer, Susan Zwakenberg, Johan Gerrits, Denise Westland, Arif I. Ardisasmita, Sabine A. Fuchs, Nanda M. Verhoeven-Duif, Judith J. M. Jans, Fried J. T. Zwartkruis
Publikováno v:
Metabolites, Vol 14, Iss 5, p 246 (2024)
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 det
Externí odkaz:
https://doaj.org/article/d7a1eb86047547ed993cb54f3f93b1c8
Autor:
Anke P. Willems, Maria van der Ham, Birgit G. M. Schiebergen-Bronkhorst, Mirjam van Aalderen, Martina M. J. de Barse, Fini E. De Gruyter, Ilja N. van Hoek, Mia L. Pras-Raves, Monique G. M. de Sain-van der Velden, Hubertus C. M. T. Prinsen, Nanda M. Verhoeven-Duif, Judith J. M. Jans
Publikováno v:
Frontiers in Molecular Biosciences, Vol 10 (2023)
Background: Early diagnosis of inherited metabolic diseases (IMDs) is important because treatment may lead to reduced mortality and improved prognosis. Due to their diversity, it is a challenge to diagnose IMDs in time, effecting an emerging need for
Externí odkaz:
https://doaj.org/article/89486e7f1dfe48a3b0c77bddceeb9e23
Autor:
Melissa H. Broeks, Nils W.F. Meijer, Denise Westland, Marjolein Bosma, Johan Gerrits, Hannah M. German, Jolita Ciapaite, Clara D.M. van Karnebeek, Ronald J.A. Wanders, Fried J.T. Zwartkruis, Nanda M. Verhoeven-Duif, Judith J.M. Jans
Publikováno v:
Cell Reports, Vol 42, Iss 9, Pp 113043- (2023)
Summary: The malate-aspartate shuttle (MAS) is a redox shuttle that transports reducing equivalents across the inner mitochondrial membrane while recycling cytosolic NADH to NAD+. We genetically disrupted each MAS component to generate a panel of MAS
Externí odkaz:
https://doaj.org/article/ac08eb6204fc47578f078cc37db1f420
Autor:
Nils W. F. Meijer, Johan Gerrits, Susan Zwakenberg, Fried J. T. Zwartkruis, Nanda M. Verhoeven-Duif, Judith J. M. Jans
Publikováno v:
Metabolites, Vol 13, Iss 12, p 1196 (2023)
NAD synthetase 1 (encoded by the gene NADSYN1) is a cytosolic enzyme that catalyzes the final step in the biosynthesis of nicotinamide adenine dinucleotide (NAD+) from tryptophan and nicotinic acid. NADSYN1 deficiency has recently been added to the s
Externí odkaz:
https://doaj.org/article/9e00fe961e6c47efa16164d992d87e11
Autor:
Dorinde Korteling, Marco P. Boks, Ania M. Fiksinski, Ilja N. van Hoek, Jacob A. S. Vorstman, Nanda M. Verhoeven-Duif, Judith J. M. Jans, Janneke R. Zinkstok
Publikováno v:
Translational Psychiatry, Vol 12, Iss 1, Pp 1-7 (2022)
Abstract The 22q11.2 deletion syndrome (22q11.2DS) is characterized by a well-defined microdeletion and is associated with increased risk of neurodevelopmental phenotypes including autism spectrum disorders (ASD) and intellectual impairment. The typi
Externí odkaz:
https://doaj.org/article/813bd39245924393afee3b6cedb922b1
Autor:
Birgit van Dooijeweert, Melissa H. Broeks, Nanda M. Verhoeven-Duif, Wouter W. van Solinge, Eduard J. van Beers, Minke A. E. Rab, Edward E. S. Nieuwenhuis, Judith J. M. Jans, Marije Bartels, Richard van Wijk
Publikováno v:
HemaSphere, Vol 5, Iss 7, p e591 (2021)
Externí odkaz:
https://doaj.org/article/24f478f5a75341d482e556b9b2fbf08c
Autor:
Glen R. Monroe, Albertien M. van Eerde, Federico Tessadori, Karen J. Duran, Sanne M. C. Savelberg, Johanna C. van Alfen, Paulien A. Terhal, Saskia N. van der Crabben, Klaske D. Lichtenbelt, Sabine A. Fuchs, Johan Gerrits, Markus J. van Roosmalen, Koen L. van Gassen, Mirjam van Aalderen, Bart G. Koot, Marlies Oostendorp, Marinus Duran, Gepke Visser, Tom J. de Koning, Francesco Calì, Paolo Bosco, Karin Geleijns, Monique G. M. de Sain-van der Velden, Nine V. Knoers, Jeroen Bakkers, Nanda M. Verhoeven-Duif, Gijs van Haaften, Judith J. Jans
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-8 (2019)
D-lactic acidosis typically occurs in the context of short bowel syndrome; excess D-lactate is produced by intestinal bacteria. Here, the authors identify two point mutations in the human lactate dehydrogenase D (LDHD) gene that cause enzymatic loss
Externí odkaz:
https://doaj.org/article/0dc2cc8f517f49eaa57ea85a84853e50
Autor:
Birgit van Dooijeweert, Melissa H. Broeks, Nanda M. Verhoeven-Duif, Eduard J. van Beers, Edward E.S. Nieuwenhuis, Wouter W. van Solinge, Marije Bartels, Judith J. Jans, Richard van Wijk
Publikováno v:
Haematologica, Vol 106, Iss 10 (2020)
The diagnostic evaluation and clinical characterization of rare hereditary anemia (RHA) is to date still challenging. In particular, there is little knowledge of the broad metabolic impact of many of the molecular defects underlying RHA. In this stud
Externí odkaz:
https://doaj.org/article/6c3929b55bcc47a69b4d4c7bb71d10d1
Autor:
H.A. Haijes, Hubertus C.M.T. Prinsen, Monique G.M. de Sain-van der Velden, Nanda M. Verhoeven-Duif, Peter M. van Hasselt, Judith J.M. Jans
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)
Introduction: Hartnup disorder is caused by a deficiency of the sodium dependent B0 AT1 neutral amino acid transporter in the proximal kidney tubules and jejunum. Biochemically, Hartnup disorder is diagnosed via amino acid excretion patterns. However
Externí odkaz:
https://doaj.org/article/06cc5e253a7245a3b5369f49e4655bc0
Autor:
Wout J Weuring, Sakshi Singh, Linda Volkers, Martin B Rook, Ruben H van 't Slot, Marjolein Bosma, Marco Inserra, Irina Vetter, Nanda M Verhoeven-Duif, Kees P J Braun, Mirko Rivara, Bobby P C Koeleman
Publikováno v:
PLoS ONE, Vol 15, Iss 3, p e0219106 (2020)
Dravet syndrome is caused by dominant loss-of-function mutations in SCN1A which cause reduced activity of Nav1.1 leading to lack of neuronal inhibition. On the other hand, gain-of-function mutations in SCN8A can lead to a severe epileptic encephalopa
Externí odkaz:
https://doaj.org/article/6bee8c3f2c6649e9a69da93d49666e56