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N-Glycosylation Defects in Humans Lower Low-Density Lipoprotein Cholesterol Through Increased Low-Density Lipoprotein 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. van den Boogert MAW, et al. Circulation. 2019 Jul 23;140(4):280-292. doi: 10.1161/CIRCULATIONAHA.118.036484. Epub 2019 May 23. Circulation. 2019. PMID: 31117816
Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations.
van den Boogert MAW, Crunelle CL, Ali L, Larsen LE, Kuil SD, Levels JHM, Schimmel AWM, Konstantopoulou V, Guerin M, Kuivenhoven JA, Dallinga-Thie GM, Stroes ESG, Lefeber DJ, Holleboom AG. van den Boogert MAW, et al. J Inherit Metab Dis. 2020 May;43(3):611-617. doi: 10.1002/jimd.12200. Epub 2019 Dec 29. J Inherit Metab Dis. 2020. PMID: 31800099 Free PMC article.
Naturally Occurring Variants in LRP1 (Low-Density Lipoprotein Receptor-Related Protein 1) Affect HDL (High-Density Lipoprotein) Metabolism Through ABCA1 (ATP-Binding Cassette A1) and SR-B1 (Scavenger Receptor Class B Type 1) in Humans.
Oldoni F, van Capelleveen JC, Dalila N, Wolters JC, Heeren J, Sinke RJ, Hui DY, Dallinga-Thie GM, Frikke-Schmidt R, Hovingh KG, van de Sluis B, Tybjærg-Hansen A, Kuivenhoven JA. Oldoni F, et al. Arterioscler Thromb Vasc Biol. 2018 Jul;38(7):1440-1453. doi: 10.1161/ATVBAHA.117.310309. Epub 2018 May 31. Arterioscler Thromb Vasc Biol. 2018. PMID: 29853565 Free PMC article.
A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia.
Reeskamp LF, Hartgers ML, Peter J, Dallinga-Thie GM, Zuurbier L, Defesche JC, Grefhorst A, Hovingh GK. Reeskamp LF, et al. Circ Genom Precis Med. 2018 Dec;11(12):e002385. doi: 10.1161/CIRCGEN.118.002385. Circ Genom Precis Med. 2018. PMID: 30562117
Taking One Step Back in Familial Hypercholesterolemia: STAP1 Does Not Alter Plasma LDL (Low-Density Lipoprotein) Cholesterol in Mice and Humans.
Loaiza N, Hartgers ML, Reeskamp LF, Balder JW, Rimbert A, Bazioti V, Wolters JC, Winkelmeijer M, Jansen HPG, Dallinga-Thie GM, Volta A, Huijkman N, Smit M, Kloosterhuis N, Koster M, Svendsen AF, van de Sluis B, Hovingh GK, Grefhorst A, Kuivenhoven JA. Loaiza N, et al. Arterioscler Thromb Vasc Biol. 2020 Apr;40(4):973-985. doi: 10.1161/ATVBAHA.119.313470. Epub 2020 Jan 30. Arterioscler Thromb Vasc Biol. 2020. PMID: 31996024 Free PMC article.
238 results