ArticleJournal of inherited metabolic disease2020
Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations.
Article in Journal of inherited metabolic disease, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 12 citations in OpenAlex.
- ADAR RNA editing for cardiovascular disease: TargetingMolecular therapy. Nucleic acids · 2026Article
- B4GALT1 deficiency attenuates steatohepatitis by regulating the PPARγ/ACSL4 axis.Hepatology communications · 2026Article
- A lipid metabolism and lysosome-based risk signature for prognosis and immune response prediction in uterine corpus endometrial carcinoma.Frontiers in genetics · 2025Article
- Cholesteryl Ester Transfer Protein (CETP) Variations in Relation to Lipid Profiles and Cardiovascular Diseases: An Update.Current pharmaceutical design · 2024Review
- Glycosylation of HDL-Associated Proteins and Its Implications in Cardiovascular Disease Diagnosis, Metabolism and Function.Frontiers in cardiovascular medicine · 2022Review
- Expressing the Human Cholesteryl Ester Transfer Protein Minigene Improves Diet-Induced Fatty Liver and Insulin Resistance in Female Mice.Frontiers in physiology · 2021Article
- Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations.Journal of inherited metabolic disease · 2020Article
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Authors and funding
14 authors at 7 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 focusing followed by a western blot and CETP activity in three known B4GALT1-CDG patients and compared them with 11 age- and gender-matched, healthy controls. B4GALT1-CDG patients have significantly lowered non-high density lipoprotein cholesterol (HDL-c) and total cholesterol to HDL-c ratio compared with controls and larger HDL particles. Plasma CETP was hypoglycosylated and less active in B4GALT1-CDG patients compared to matched controls. Our study provides insight into the role of protein glycosylation in human lipoprotein homeostasis. The hypogalactosylated, hypo-active CETP found in patients with B4GALT1-CDG indicates a role of protein galactosylation in regulating plasma HDL and LDL. Patients with B4GALT1-CDG have large HDL particles probably due to hypogalactosylated, hypo-active CETP.
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