Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Monique van Scherpenzeel"'
Autor:
Federica Conte, Marek J. Noga, Monique van Scherpenzeel, Raisa Veizaj, Rik Scharn, Juda-El Sam, Chiara Palumbo, Frans C. A. van den Brandt, Christian Freund, Eduardo Soares, Huiqing Zhou, Dirk J. Lefeber
Publikováno v:
Cells, Vol 12, Iss 13, p 1765 (2023)
Metabolism not only produces energy necessary for the cell but is also a key regulator of several cellular functions, including pluripotency and self-renewal. Nucleotide sugars (NSs) are activated sugars that link glucose metabolism with cellular fun
Externí odkaz:
https://doaj.org/article/ed7d94ffbd454f9c961218eac0c44815
Autor:
Federica Conte, Angel Ashikov, Rachel Mijdam, Eline G. P. van de Ven, Monique van Scherpenzeel, Raisa Veizaj, Seyed P. Mahalleh-Yousefi, Merel A. Post, Karin Huijben, Daan M. Panneman, Richard J. T. Rodenburg, Nicol C. Voermans, Alejandro Garanto, Werner J. H. Koopman, Hans J. C. T. Wessels, Marek J. Noga, Dirk J. Lefeber
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 9, p 8247 (2023)
Phosphoglucomutase 1 (PGM1) is a key enzyme for the regulation of energy metabolism from glycogen and glycolysis, as it catalyzes the interconversion of glucose 1-phosphate and glucose 6-phosphate. PGM1 deficiency is an autosomal recessive disorder c
Externí odkaz:
https://doaj.org/article/764ad37d103c4846adf3b11e0471176b
Autor:
Eric J. R. Jansen, Sharita Timal, Margret Ryan, Angel Ashikov, Monique van Scherpenzeel, Laurie A. Graham, Hanna Mandel, Alexander Hoischen, Theodore C. Iancu, Kimiyo Raymond, Gerry Steenbergen, Christian Gilissen, Karin Huijben, Nick H. M. van Bakel, Yusuke Maeda, Richard J. Rodenburg, Maciej Adamowicz, Ellen Crushell, Hans Koenen, Darius Adams, Julia Vodopiutz, Susanne Greber-Platzer, Thomas Müller, Gregor Dueckers, Eva Morava, Jolanta Sykut-Cegielska, Gerard J. M. Martens, Ron A. Wevers, Tim Niehues, Martijn A. Huynen, Joris A. Veltman, Tom H. Stevens, Dirk J. Lefeber
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Here, Dirk Lefeber and colleagues identify functional mutations in ATP6AP1 encoding Ac45. The authors show that Ac45 is the functional ortholog of yeast V-ATPase assembly factor Voa1 and provide evidence for tissue-specific Ac45 processing, associate
Externí odkaz:
https://doaj.org/article/afaab16f854a454bb591193eef588aa6
Autor:
Lefeber, Federica Conte, Marek J. Noga, Monique van Scherpenzeel, Raisa Veizaj, Rik Scharn, Juda-El Sam, Chiara Palumbo, Frans C. A. van den Brandt, Christian Freund, Eduardo Soares, Huiqing Zhou, Dirk J.
Publikováno v:
Cells; Volume 12; Issue 13; Pages: 1765
Metabolism not only produces energy necessary for the cell but is also a key regulator of several cellular functions, including pluripotency and self-renewal. Nucleotide sugars (NSs) are activated sugars that link glucose metabolism with cellular fun
Autor:
Nurulamin Abu Bakar, Angel Ashikov, Jaime Moritz Brum, Roel Smeets, Marjan Kersten, Karin Huijben, Wee Teik Keng, Carlos Eduardo Speck‐Martins, Daniel Rocha de Carvalho, Isabela Maria Pinto Oliveira de Rizzo, Walquiria Domingues de Mello, Rebecca Heiner‐Fokkema, Kathleen Gorman, Stephanie Grunewald, Helen Michelakakis, Marina Moraitou, Diego Martinelli, Monique van Scherpenzeel, Mirian Janssen, Lonneke de Boer, Lambertus P. van den Heuvel, Christian Thiel, Dirk J. Lefeber
Publikováno v:
Journal of Inherited Metabolic Disease, 45, 769-781
Journal of Inherited Metabolic Disease, 45, 4, pp. 769-781
Journal of Inherited Metabolic Disease, 45(4), 769-781. SPRINGER
Journal of Inherited Metabolic Disease, 45, 4, pp. 769-781
Journal of Inherited Metabolic Disease, 45(4), 769-781. SPRINGER
Contains fulltext : 282651.pdf (Publisher’s version ) (Open Access) Congenital disorders of glycosylation type 1 (CDG-I) comprise a group of 27 genetic defects with heterogeneous multisystem phenotype, mostly presenting with nonspecific neurologica
Autor:
Monique van Scherpenzeel, Federica Conte, Christian Büll, Angel Ashikov, Esther Hermans, Anke Willems, Walinka van Tol, Else Kragt, Marek Noga, Ed E Moret, Torben Heise, Jeroen D Langereis, Emiel Rossing, Michael Zimmermann, M Estela Rubio-Gozalbo, Marien I de Jonge, Gosse J Adema, Nicola Zamboni, Thomas Boltje, Dirk J Lefeber
Publikováno v:
Glycobiology, 32, 3, pp. 239-250
Glycobiology, 32(3), 239-250. Oxford University Press
Glycobiology, 32 (3)
Glycobiology, 32, 239-250
Glycobiology, 32(3), 239-250. Oxford University Press
Glycobiology, 32 (3)
Glycobiology, 32, 239-250
Synthetic sugar analogs are widely applied in metabolic oligosaccharide engineering (MOE) and as novel drugs to interfere with glycoconjugate biosynthesis. However, mechanistic insights on their exact cellular metabolism over time are mostly lacking.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb415a2be9622239306bb55fcad4a567
https://repository.ubn.ru.nl/handle/2066/248778
https://repository.ubn.ru.nl/handle/2066/248778
Autor:
Gosse J. Adema, Michael B. Zimmermann, Esther Hermans, Emiel Rossing, Thomas J. Boltje, Estela M. Rubio-Gozalbo, Anke P. Willems, Else Kragt, Angel Ashikov, Marien I. de Jonge, Monique van Scherpenzeel, Nicola Zamboni, Torben Heise, Walinka van Tol, Ed E. Moret, Dirk Lefeber, Christian Büll, Jeroen D. Langereis, Federica Conte
Synthetic sugar analogs are widely applied in metabolic oligosaccharide engineering (MOE) and as novel drugs to interfere with glycoconjugate biosynthesis. However, mechanistic insights on their exact metabolism in the cell and over time are mostly l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ade3b0e23c8c642bda7c9bdebdca30e
https://doi.org/10.1101/2020.09.15.288712
https://doi.org/10.1101/2020.09.15.288712
Autor:
Bart van Hoek, Fokje Zijlstra, Karin Huijben, Aad P. van den Berg, Dirk Lefeber, Monique van Scherpenzeel, Joost P.H. Drenth, Herold J. Metselaar, Jos C. Jansen
Publikováno v:
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 43(6), 1310-1320. SPRINGER
Journal of Inherited Metabolic Disease, 43(6), 1310-1320. Springer Netherlands
Journal of Inherited Metabolic Disease, 43, 1310-1320
Journal of Inherited Metabolic Disease, 43, 6, pp. 1310-1320
Journal of Inherited Metabolic Disease, 43(6), 1310-1320. WILEY
Journal of Inherited Metabolic Disease, 43(6), 1310-1320. SPRINGER
Journal of Inherited Metabolic Disease, 43(6), 1310-1320. Springer Netherlands
Journal of Inherited Metabolic Disease, 43, 1310-1320
Journal of Inherited Metabolic Disease, 43, 6, pp. 1310-1320
Journal of Inherited Metabolic Disease, 43(6), 1310-1320. WILEY
Contains fulltext : 229317.pdf (Publisher’s version ) (Open Access) Congenital disorders of glycosylation (CDG) are a rapidly expanding group of rare genetic defects in glycosylation. In a novel CDG subgroup of vacuolar-ATPase (V-ATPase) assembly d
Autor:
Nicol C. Voermans, Saskia B. Wortmann, Lihadh Al-Gazali, Eva Morava, Jozef Hertecant, David Kronn, Ralph Fingerhut, Anne Jonge Poerink, Monique van Scherpenzeel, Dirk Lefeber, Nurulamin Abu Bakar, Katja S. Brocke Holmefjord, Federica Conte, Maaike de Vries, Annette Feigenbaum, Ellen Crushell, Stephanie Grunewald, Sunnie Wong, Lars Mørkrid
Publikováno v:
Mol. Genet. Metab. 131, 135-146 (2020)
Molecular Genetics and Metabolism, 131, 1-2, pp. 135-146
Molecular Genetics and Metabolism, 131, 135-146
Molecular Genetics and Metabolism, 131, 1-2, pp. 135-146
Molecular Genetics and Metabolism, 131, 135-146
Contains fulltext : 229474.pdf (Publisher’s version ) (Open Access) Phosphoglucomutase 1 deficiency is a congenital disorder of glycosylation (CDG) with multiorgan involvement affecting carbohydrate metabolism, N-glycosylation and energy production
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e25c4dbc4b7770f0ca7fd5c101e4b08
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60435
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60435
Autor:
Angel, Ashikov, Nurulamin, Abu Bakar, Xiao-Yan, Wen, Marco, Niemeijer, Glentino, Rodrigues Pinto Osorio, Koroboshka, Brand-Arzamendi, Linda, Hasadsri, Hana, Hansikova, Kimiyo, Raymond, Dorothée, Vicogne, Nina, Ondruskova, Marleen E H, Simon, Rolph, Pfundt, Sharita, Timal, Roel, Beumers, Christophe, Biot, Roel, Smeets, Marjan, Kersten, Karin, Huijben, Peter T A, Linders, Geert, van den Bogaart, Sacha A F T, van Hijum, Richard, Rodenburg, Lambertus P, van den Heuvel, Francjan, van Spronsen, Tomas, Honzik, Francois, Foulquier, Monique, van Scherpenzeel, Dirk J, Lefeber, Wamelink, Mirjam, Brunner, Han, Mundy, Helen, Michelakakis, Helen, van Hasselt, Peter, van de Kamp, Jiddeke, Martinelli, Diego, Morkrid, Lars, Brocke Holmefjord, Katja, Hertecant, Jozef, Alfadhel, Majid, Carpenter, Kevin, Te Water Naude, Johann
Publikováno v:
CDG group 2018, ' Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation ', Human Molecular Genetics, vol. 27, no. 17, pp. 3029-3045 . https://doi.org/10.1093/hmg/ddy213
Human Molecular Genetics, 27(17), 3029-3045. Oxford University Press
Human Molecular Genetics, 27, 3029-3045
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2018, 27 (17), pp.3029-3045. ⟨10.1093/hmg/ddy213⟩
Human Molecular Genetics, 27(17), 3029. Oxford University Press
Human Molecular Genetics, 27, 17, pp. 3029-3045
Human Molecular Genetics, 2018, 27 (17), pp.3029-3045. ⟨10.1093/hmg/ddy213⟩
Human Molecular Genetics, 27(17), 3029-3045. Oxford University Press
Human Molecular Genetics, 27, 3029-3045
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2018, 27 (17), pp.3029-3045. ⟨10.1093/hmg/ddy213⟩
Human Molecular Genetics, 27(17), 3029. Oxford University Press
Human Molecular Genetics, 27, 17, pp. 3029-3045
Human Molecular Genetics, 2018, 27 (17), pp.3029-3045. ⟨10.1093/hmg/ddy213⟩
Genomics methodologies have significantly improved elucidation of Mendelian disorders. The combination with high-throughput functional-omics technologies potentiates the identification and confirmation of causative genetic variants, especially in sin