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Sökning: onr:"swepub:oai:DiVA.org:liu-73069" > Heterozygosity for ...

Heterozygosity for a Loss-of-Function Mutation in GALNT2 Improves Plasma Triglyceride Clearance in Man

Holleboom, Adriaan G (författare)
Department of Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
Karlsson, Helen (författare)
Östergötlands Läns Landsting,Linköpings universitet,Yrkes- och miljömedicin,Hälsouniversitetet,Arbets- och miljömedicin
Lin, Ruei-Shiuan (författare)
Section on Biological Chemistry, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA
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Beres, Thomas M (författare)
Section on Biological Chemistry, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA
Sierts, Jeroen A (författare)
Department of Experimental Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
Herman, Daniel S (författare)
Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
Stroes, Erik S G (författare)
Department of Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
Aerts, Johannes M (författare)
Department of Medical Biochemistry, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
Kastelein, John J P (författare)
Department of Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
Motazacker, Mohammad M (författare)
Department of Experimental Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
Dallinga-Thie, Geesje M (författare)
Department of Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
Levels, Johannes H M (författare)
Department of Experimental Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
Zwinderman, Aeilko H (författare)
Department of Clinical Epidemiology, Biostatistics, and Bioinformatics, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
Seidman, Jonathan G (författare)
Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
Seidman, Christine E (författare)
Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
Ljunggren, Stefan (författare)
Linköpings universitet,Yrkes- och miljömedicin,Hälsouniversitetet
Lefeber, Dirk J (författare)
Department of Neurology, Radboud University Nijmegen Medical Center, Nijmegen 6525GA, The Netherlands
Morava, Eva (författare)
Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, Nijmegen 6525GA, The Netherlands
Wevers, Ron A (författare)
Department of Laboratory Medicine, Radboud University Nijmegen Medical Center, Nijmegen 6525GA, The Netherlands
Fritz, Timothy A (författare)
Food and Drug Administration, Rockville, MD 20852, USA
Tabak, Lawrence A (författare)
Section on Biological Chemistry, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA
Lindahl, Mats (författare)
Linköpings universitet,Yrkes- och miljömedicin,Hälsouniversitetet
Hovingh, G Kees (författare)
Department of Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
Kuivenhoven, Jan Albert (författare)
Department of Experimental Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
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 (creator_code:org_t)
Elsevier, 2011
2011
Engelska.
Ingår i: Cell Metabolism. - : Elsevier. - 1550-4131 .- 1932-7420. ; 14:6, s. 811-8
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
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  • Genome-wide association studies have identified GALNT2 as a candidate gene in lipid metabolism, but it is not known how the encoded enzyme ppGalNAc-T2, which contributes to the initiation of mucin-type O-linked glycosylation, mediates this effect. In two probands with elevated plasma high-density lipoprotein cholesterol and reduced triglycerides, we identified a mutation in GALNT2. It is shown that carriers have improved postprandial triglyceride clearance, which is likely attributable to attenuated glycosylation of apolipoprotein (apo) C-III, as observed in their plasma. This protein inhibits lipoprotein lipase (LPL), which hydrolyses plasma triglycerides. We show that an apoC-III-based peptide is a substrate for ppGalNAc-T2 while its glycosylation by the mutant enzyme is impaired. In addition, neuraminidase treatment of apoC-III which removes the sialic acids from its glycan chain decreases its potential to inhibit LPL. Combined, these data suggest that ppGalNAc-T2 can affect lipid metabolism through apoC-III glycosylation, thereby establishing GALNT2 as a lipid-modifying gene.

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