Article
Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations.
Journal of inherited metabolic disease - 1 May 2020
van den Boogert Marjolein A W, Crunelle Cleo L, Ali Lubna, Larsen Lars E, Kuil Sacha D, Levels Johannes H M, Schimmel Alinda W M, Konstantopoulou Vassiliki, Guerin Maryse, Kuivenhoven Jan Albert, Dallinga-Thie Geesje M, Stroes Erik S G, Lefeber Dirk J, Holleboom Adriaan G
Abstract excerpt
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 defective glycosylation on plasma lipids in patients with B4GALT1-CDG, caused by a mutation in B4GALT1 with defective N-linked glycosylation. We studied plasma lipids, cholesteryl ester transfer protein (CETP) glyco-isoforms with isoelectric...
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