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Items: 7

1.

N-Glycosylation Defects in Man Lower LDL-Cholesterol Through Increased LDL Receptor Expression.

van den Boogert MAW, Larsen LE, Ali L, Kuil SD, Chong PLW, Loregger A, Kroon J, Schnitzler JG, Schimmel AWM, Peter J, Levels JHM, Steenbergen G, Morava E, Dallinga-Thie GM, Wevers RA, Kuivenhoven JA, Hand NJ, Zelcer N, Rader DJ, Stroes ESG, Lefeber DJ, Holleboom AG.

Circulation. 2019 May 23. doi: 10.1161/CIRCULATIONAHA.118.036484. [Epub ahead of print]

PMID:
31117816
2.

New insights into the role of glycosylation in lipoprotein metabolism.

van den Boogert MAW, Rader DJ, Holleboom AG.

Curr Opin Lipidol. 2017 Dec;28(6):502-506. doi: 10.1097/MOL.0000000000000461. Review.

PMID:
28922188
3.

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.

Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ.

Am J Hum Genet. 2016 Feb 4;98(2):310-21. doi: 10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28.

4.

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.

Jansen JC, Timal S, van Scherpenzeel M, Michelakakis H, Vicogne D, Ashikov A, Moraitou M, Hoischen A, Huijben K, Steenbergen G, van den Boogert MA, Porta F, Calvo PL, Mavrikou M, Cenacchi G, van den Bogaart G, Salomon J, Holleboom AG, Rodenburg RJ, Drenth JP, Huynen MA, Wevers RA, Morava E, Foulquier F, Veltman JA, Lefeber DJ.

Am J Hum Genet. 2016 Feb 4;98(2):322-30. doi: 10.1016/j.ajhg.2015.12.011. Epub 2016 Jan 28.

5.

Ext1 heterozygosity causes a modest effect on postprandial lipid clearance in humans.

Mooij HL, Bernelot Moens SJ, Gordts PL, Stanford KI, Foley EM, van den Boogert MA, Witjes JJ, Hassing HC, Tanck MW, van de Sande MA, Levels JH, Kastelein JJ, Stroes ES, Dallinga-Thie GM, Esko JD, Nieuwdorp M.

J Lipid Res. 2015 Mar;56(3):665-73. doi: 10.1194/jlr.M053504. Epub 2015 Jan 7.

6.

Ion channel-kinase TRPM7 is required for maintaining cardiac automaticity.

Sah R, Mesirca P, Van den Boogert M, Rosen J, Mably J, Mangoni ME, Clapham DE.

Proc Natl Acad Sci U S A. 2013 Aug 6;110(32):E3037-46. doi: 10.1073/pnas.1311865110. Epub 2013 Jul 22. Erratum in: Proc Natl Acad Sci U S A. 2014 April 29;111(17):6528.

7.

Timing of myocardial trpm7 deletion during cardiogenesis variably disrupts adult ventricular function, conduction, and repolarization.

Sah R, Mesirca P, Mason X, Gibson W, Bates-Withers C, Van den Boogert M, Chaudhuri D, Pu WT, Mangoni ME, Clapham DE.

Circulation. 2013 Jul 9;128(2):101-14. doi: 10.1161/CIRCULATIONAHA.112.000768. Epub 2013 Jun 3.

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