Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Marjolein A.W. van den Boogert"'
Autor:
Lars E. Larsen, Marjolein A.W. van den Boogert, Wilson A. Rios-Ocampo, Jos C. Jansen, Donna Conlon, Patrick L.E. Chong, J. Han M. Levels, Roos E. Eilers, Vinay V. Sachdev, Noam Zelcer, Tobias Raabe, Miao He, Nicholas J. Hand, Joost P.H. Drenth, David J. Rader, Eric S.G. Stroes, Dirk J. Lefeber, Johan W. Jonker, Adriaan G. Holleboom
Publikováno v:
Cellular and Molecular Gastroenterology and Hepatology, Vol 13, Iss 2, Pp 583-597 (2022)
Background & Aims: Recently, novel inborn errors of metabolism were identified because of mutations in V-ATPase assembly factors TMEM199 and CCDC115. Patients are characterized by generalized protein glycosylation defects, hypercholesterolemia, and f
Externí odkaz:
https://doaj.org/article/f83a6ee89be64fb6964bdd0493f8352e
Autor:
Arjen J. Cupido, Marjolein A.W. van den Boogert, Maaike Rijkers, G. Kees Hovingh, Geesje M. Dallinga-Thie, Lubna Ali, Adriaan G. Holleboom, Erik S.G. Stroes
Publikováno v:
Atherosclerosis, 306, 15-21. Elsevier Ireland Ltd
Background and aims The rare ASGR1 del12 variant is associated with a beneficial effect on coronary artery disease (CAD) that is disproportionate to the small reductions in plasma LDL cholesterol (LDLc). This unexplained benefit has sparked the debat
Autor:
David J. Rader, Joost P.H. Drenth, Adriaan G. Holleboom, Jos C. Jansen, J. Han M. Levels, Lars E. Larsen, Marjolein A.W. van den Boogert, Roos E. Eilers, Patrick L.E. Chong, Donna M. Conlon, Vinay Sachdev, Nicholas J. Hand, Wilson A. Rios-Ocampo, Eric S.G. Stroes, Miao He, Noam Zelcer, Tobias Raabe, Dirk Lefeber, Johan W. Jonker
Publikováno v:
Cellular and molecular gastroenterology and hepatology, 13(2), 583-597. Elsevier Inc.
Cellular and Molecular Gastroenterology and Hepatology
Cellular and Molecular Gastroenterology and Hepatology, Vol 13, Iss 2, Pp 583-597 (2022)
Cellular and Molecular Gastroenterology and Hepatology, 13, 583-597
Cellular and molecular gastroenterology and hepatology, 13(2), 583-597. HANLEY & BELFUS-ELSEVIER INC
Cellular and Molecular Gastroenterology and Hepatology, 13, 2, pp. 583-597
Cellular and Molecular Gastroenterology and Hepatology
Cellular and Molecular Gastroenterology and Hepatology, Vol 13, Iss 2, Pp 583-597 (2022)
Cellular and Molecular Gastroenterology and Hepatology, 13, 583-597
Cellular and molecular gastroenterology and hepatology, 13(2), 583-597. HANLEY & BELFUS-ELSEVIER INC
Cellular and Molecular Gastroenterology and Hepatology, 13, 2, pp. 583-597
Background & Aims Recently, novel inborn errors of metabolism were identified because of mutations in V-ATPase assembly factors TMEM199 and CCDC115. Patients are characterized by generalized protein glycosylation defects, hypercholesterolemia, and fa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd690ee2f3528274a974978110078931
https://pure.amc.nl/en/publications/defective-lipid-dropletlysosome-interaction-causes-fatty-liver-disease-as-evidenced-by-human-mutations-in-tmem199-and-ccdc115(4a8f6f40-8c9d-48bf-9fc0-f57814f0e83b).html
https://pure.amc.nl/en/publications/defective-lipid-dropletlysosome-interaction-causes-fatty-liver-disease-as-evidenced-by-human-mutations-in-tmem199-and-ccdc115(4a8f6f40-8c9d-48bf-9fc0-f57814f0e83b).html
Autor:
Johannes H.M. Levels, Geesje M. Dallinga-Thie, Cleo L. Crunelle, Maryse Guerin, Sacha D. Kuil, Erik S.G. Stroes, Alinda W. M. Schimmel, Lars E. Larsen, Jan Albert Kuivenhoven, Lubna Ali, Vassiliki Konstantopoulou, Marjolein A.W. van den Boogert, Adriaan G. Holleboom, Dirk Lefeber
Publikováno v:
Journal of Inherited Metabolic Disease, 43(3), 611-617. SPRINGER
Journal of Inherited Metabolic Disease
Journal of inherited metabolic disease, 43(3), 611-617. Springer Netherlands
Journal of Inherited Metabolic Disease, 43, 3, pp. 611-617
Journal of Inherited Metabolic Disease, Springer Verlag, 2020, 43 (3), pp.611-617. ⟨10.1002/jimd.12200⟩
Journal of Inherited Metabolic Disease, 43, 611-617
Journal of Inherited Metabolic Disease
Journal of inherited metabolic disease, 43(3), 611-617. Springer Netherlands
Journal of Inherited Metabolic Disease, 43, 3, pp. 611-617
Journal of Inherited Metabolic Disease, Springer Verlag, 2020, 43 (3), pp.611-617. ⟨10.1002/jimd.12200⟩
Journal of Inherited Metabolic Disease, 43, 611-617
Contains fulltext : 220538.pdf (Publisher’s version ) (Open Access) The importance of protein glycosylation in regulating lipid metabolism is becoming increasingly apparent. We set out to further investigate this by studying the effects of defectiv
Publikováno v:
Current Opinion in Lipidology. 28:502-506
Purpose of review Human genetics has provided new insights into the role of protein glycosylation in regulating lipoprotein metabolism. Here we review these new developments and discuss the biological insights they provide. Recent findings Case descr
Autor:
Anke Loregger, Lars E. Larsen, Noam Zelcer, Geesje M. Dallinga-Thie, Alinda W. M. Schimmel, Daniel J. Rader, Eva Morava, Jan Albert Kuivenhoven, Lubna Ali, Johannes H.M. Levels, Jeffrey Kroon, Jorge Peter, Marjolein A.W. van den Boogert, Ron A. Wevers, Sacha D. Kuil, Patrick L.W. Chong, Erik S.G. Stroes, Johan G. Schnitzler, Adriaan G. Holleboom, Nicholas J. Hand, Dirk Lefeber, Gerry Steenbergen
Publikováno v:
Circulation, 140, 4, pp. 280-292
Circulation, 140(4), 280-292. Lippincott Williams and Wilkins
Circulation, 140, 280-292
Circulation, 140(4), 280-292. LIPPINCOTT WILLIAMS & WILKINS
Circulation, 140(4), 280-292. Lippincott Williams and Wilkins
Circulation, 140, 280-292
Circulation, 140(4), 280-292. LIPPINCOTT WILLIAMS & WILKINS
Background: The importance of protein glycosylation in regulating lipid metabolism is becoming increasingly apparent. We set out to further investigate this by studying patients with type I congenital disorders of glycosylation (CDGs) with defective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dec072e41b82fed7ffaa9d363ac3b2df
https://hdl.handle.net/2066/206227
https://hdl.handle.net/2066/206227
Autor:
Marjolein A.W. van den Boogert, Joost P.H. Drenth, Gerry Steenbergen, Adriaan G. Holleboom, Marie-Cécile Nassogne, Dirk Lefeber, Gert Matthijs, Ulrike Schara, Luísa Diogo, Ron A. Wevers, Sharita Timal, Belén Pérez, Yoshinao Wada, Etienne Sokal, Jaak Jaeken, Peter Krawitz, Martijn A. Huynen, Monique van Scherpenzeel, Lambertus P. van den Heuvel, Patrick Gerner, Celia Medrano, Dorothée Vicogne, Sebahattin Cirak, Eva Morava, Joris A. Veltman, Alexander Hoischen, Daisy Rymen, Geert van den Bogaart, Janine Reunert, Andrea Arnoldy, Thorsten Marquardt, François Foulquier, O. Kaiser, Angel Ashikov, Stephan Rust, Dulce Quelhas, David Cheillan, Celia Pérez-Cerdá, Karin Huijben, Yusuke Maeda, Nathalie Guffon, Jody Salomon, Jos C. Jansen
Publikováno v:
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 98 (2), pp.310-21. ⟨10.1016/j.ajhg.2015.12.010⟩
American Journal of Human Genetics, 98, 2, pp. 310-21
American Journal of Human Genetics, 98(2), 310-321. Cell Press
American journal of human genetics, 98(2), 310-321. Cell Press
American Journal of Human Genetics, 98, 310-21
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 98 (2), pp.310-21. ⟨10.1016/j.ajhg.2015.12.010⟩
American Journal of Human Genetics, 98, 2, pp. 310-21
American Journal of Human Genetics, 98(2), 310-321. Cell Press
American journal of human genetics, 98(2), 310-321. Cell Press
American Journal of Human Genetics, 98, 310-21
Contains fulltext : 167630.pdf (Publisher’s version ) (Closed access) Disorders of Golgi homeostasis form an emerging group of genetic defects. The highly heterogeneous clinical spectrum is not explained by our current understanding of the underlyi
Autor:
David E. Clapham, William J. Gibson, Dipayan Chaudhuri, Marjolein A.W. van den Boogert, Matteo E. Mangoni, Christopher Bates-Withers, Pietro Mesirca, Rajan Sah, William T. Pu, Xenos Mason
Publikováno v:
Circulation. 128:101-114
Background— Transient receptor potential ( TRP ) channels are a superfamily of broadly expressed ion channels with diverse physiological roles. TRPC1, TRPC3 , and TRPC6 are believed to contribute to cardiac hypertrophy in mouse models. Human mutati
Autor:
Sharita Timal, Richard J. Rodenburg, Helen Michelakakis, Mersyni Mavrikou, Marina Moraitou, Karin Huijben, Angel Ashikov, Dirk Lefeber, Jos C. Jansen, Ron A. Wevers, Jody Salomon, Monique van Scherpenzeel, Giovanna Cenacchi, Marjolein A.W. van den Boogert, Martijn A. Huynen, Pier Luigi Calvo, Joris A. Veltman, Francesco Porta, François Foulquier, Adriaan G. Holleboom, Dorothée Vicogne, Alexander Hoischen, Eva Morava, Joost P.H. Drenth, Gerry Steenbergen, Geert van den Bogaart
Publikováno v:
American Journal of Human Genetics, 98, 322-30
American journal of human genetics, 98(2), 322-330. Cell Press
American Journal of Human Genetics, 98(2), 322-330. Cell Press
American Journal of Human Genetics, 98, 2, pp. 322-30
American journal of human genetics, 98(2), 322-330. Cell Press
American Journal of Human Genetics, 98(2), 322-330. Cell Press
American Journal of Human Genetics, 98, 2, pp. 322-30
none 26 si This work was financially supported by grants from the Institute of Genetic and Metabolic Disease (to D.J.L., R.J.R., and J.A.V.), the Dutch Organization for Scientific Research (ZONMW Medium Investment Grant 40-00506-98-9001 and VIDI Gran
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f676b066f24cd6b03e358518662532bb
http://hdl.handle.net/2066/168169
http://hdl.handle.net/2066/168169
Autor:
Erin M. Foley, Michiel A. J. van de Sande, Julia J. Witjes, Michael W.T. Tanck, J. Han M. Levels, Philip L.S.M. Gordts, Erik S.G. Stroes, Max Nieuwdorp, Marjolein A.W. van den Boogert, Geesje M. Dallinga-Thie, Jeff Esko, Kristin I. Stanford, H. Carlijne Hassing, Hans L. Mooij, Sophie J. Bernelot Moens, John J.P. Kastelein
Publikováno v:
Mooij, H L, Moens, S J, Gordts, P L, Stanford, K I, Foley, E M, van den Boogert, M A, Witjes, J J, Hassing, H, Tanck, M W, van de Sande, M A, Levels, J, Kastelein, J J, Stroes, E S, Dallinga-Thie, G M, Esko, J D & Nieuwdorp, M 2015, ' Ext1 heterozygosity causes a modest effect on postprandial lipid clearance in humans ', Journal of Lipid Research, vol. 56, no. 3, pp. 665-673 . https://doi.org/10.1194/jlr.M053504
Journal of Lipid Research, 56(3), 665-673. American Society for Biochemistry and Molecular Biology Inc.
Journal of lipid research, vol 56, iss 3
Journal of Lipid Research, Vol 56, Iss 3, Pp 665-673 (2015)
Journal of Lipid Research, 56(3), 665-673
Journal of lipid research, 56(3), 665-673. American Society for Biochemistry and Molecular Biology Inc.
Journal of Lipid Research, 56(3), 665-673. American Society for Biochemistry and Molecular Biology Inc.
Journal of lipid research, vol 56, iss 3
Journal of Lipid Research, Vol 56, Iss 3, Pp 665-673 (2015)
Journal of Lipid Research, 56(3), 665-673
Journal of lipid research, 56(3), 665-673. American Society for Biochemistry and Molecular Biology Inc.
Elevated nonfasting TG-rich lipoprotein levels are a risk factor for CVD. To further evaluate the relevance of LDL-receptor (LDLr) pathway and heparan sulfate proteoglycans (HSPGs) in TG homeostasis, we analyzed fasting and postprandial TG levels in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5af6964f87d47fc4768490da71ab486
https://research.vumc.nl/en/publications/b999cf6c-e2a1-4deb-a341-20c9f4c27e26
https://research.vumc.nl/en/publications/b999cf6c-e2a1-4deb-a341-20c9f4c27e26