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We set out to further investigate this by studying the effects of defective glycosylation on plasma lipids in patients with B4GALT1\u2010CDG, caused by a mutation in <jats:italic>B4GALT1<\/jats:italic> with defective N\u2010linked glycosylation. We studied plasma lipids, cholesteryl ester transfer protein (CETP) glyco\u2010isoforms with isoelectric focusing followed by a western blot and CETP activity in three known B4GALT1\u2010CDG patients and compared them with 11 age\u2010 and gender\u2010matched, healthy controls. B4GALT1\u2010CDG patients have significantly lowered non\u2010high density lipoprotein cholesterol (HDL\u2010c) and total cholesterol to HDL\u2010c ratio compared with controls and larger HDL particles. Plasma CETP was hypoglycosylated and less active in B4GALT1\u2010CDG patients compared to matched controls. Our study provides insight into the role of protein glycosylation in human lipoprotein homeostasis. The hypogalactosylated, hypo\u2010active CETP found in patients with B4GALT1\u2010CDG indicates a role of protein galactosylation in regulating plasma HDL and LDL. Patients with B4GALT1\u2010CDG have large HDL particles probably due to hypogalactosylated, hypo\u2010active CETP.<\/jats:p>","DOI":"10.1002\/jimd.12200","type":"journal-article","created":{"date-parts":[[2019,12,4]],"date-time":"2019-12-04T15:57:30Z","timestamp":1575475050000},"page":"611-617","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations"],"prefix":"10.1002","volume":"43","author":[{"given":"Marjolein A.W.","family":"van den Boogert","sequence":"first","affiliation":[{"name":"Department of Vascular Medicine Amsterdam University Medical Centers  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cleo L.","family":"Crunelle","sequence":"additional","affiliation":[{"name":"Vrije Universiteit Brussel Universitair Ziekenhuis Brussel, Department of Psychiatry  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lubna","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Experimental Vascular Medicine Amsterdam University Medical Centers  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars E.","family":"Larsen","sequence":"additional","affiliation":[{"name":"Department of Experimental Vascular Medicine Amsterdam University Medical Centers  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sacha D.","family":"Kuil","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Laboratory of Genetic Endocrine and Metabolic Disease, Radboud University Nijmegen Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes H.M.","family":"Levels","sequence":"additional","affiliation":[{"name":"Department of Experimental Vascular Medicine Amsterdam University Medical Centers  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alinda W.M.","family":"Schimmel","sequence":"additional","affiliation":[{"name":"Department of Experimental Vascular Medicine Amsterdam University Medical Centers  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vassiliki","family":"Konstantopoulou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Medical University of Vienna  Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryse","family":"Guerin","sequence":"additional","affiliation":[{"name":"ICAN \u2010 Institute of CardioMetabolism and Nutrition H\u00f4pital de la Piti\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan Albert","family":"Kuivenhoven","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section Molecular Genetics University Medical Center Groningen, University of Groningen  The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geesje M.","family":"Dallinga\u2010Thie","sequence":"additional","affiliation":[{"name":"Department of Experimental Vascular Medicine Amsterdam University Medical Centers  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik S.G.","family":"Stroes","sequence":"additional","affiliation":[{"name":"Department of Vascular Medicine Amsterdam University Medical Centers  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dirk J.","family":"Lefeber","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Laboratory of Genetic Endocrine and Metabolic Disease, Radboud University Nijmegen Medical Center  Nijmegen The Netherlands"},{"name":"Department of Neurology Radboud University Nijmegen Medical Centre  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriaan G.","family":"Holleboom","sequence":"additional","affiliation":[{"name":"Department of Vascular Medicine Amsterdam University Medical Centers  Amsterdam The 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