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Heterozygosity for ...
Heterozygosity for a Loss-of-Function Mutation in GALNT2 Improves Plasma Triglyceride Clearance in Man
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- Holleboom, Adriaan G (author)
- Department of Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
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- Karlsson, Helen (author)
- Östergötlands Läns Landsting,Linköpings universitet,Yrkes- och miljömedicin,Hälsouniversitetet,Arbets- och miljömedicin
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- Lin, Ruei-Shiuan (author)
- 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 (author)
- Section on Biological Chemistry, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA
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- Sierts, Jeroen A (author)
- Department of Experimental Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
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- Herman, Daniel S (author)
- Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
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- Stroes, Erik S G (author)
- Department of Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
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- Aerts, Johannes M (author)
- Department of Medical Biochemistry, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
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- Kastelein, John J P (author)
- Department of Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
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- Motazacker, Mohammad M (author)
- Department of Experimental Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
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- Dallinga-Thie, Geesje M (author)
- Department of Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
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- Levels, Johannes H M (author)
- Department of Experimental Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
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- Zwinderman, Aeilko H (author)
- Department of Clinical Epidemiology, Biostatistics, and Bioinformatics, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
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- Seidman, Jonathan G (author)
- Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
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- Seidman, Christine E (author)
- Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
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- Ljunggren, Stefan (author)
- Linköpings universitet,Yrkes- och miljömedicin,Hälsouniversitetet
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- Lefeber, Dirk J (author)
- Department of Neurology, Radboud University Nijmegen Medical Center, Nijmegen 6525GA, The Netherlands
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- Morava, Eva (author)
- Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, Nijmegen 6525GA, The Netherlands
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- Wevers, Ron A (author)
- Department of Laboratory Medicine, Radboud University Nijmegen Medical Center, Nijmegen 6525GA, The Netherlands
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- Fritz, Timothy A (author)
- Food and Drug Administration, Rockville, MD 20852, USA
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- Tabak, Lawrence A (author)
- Section on Biological Chemistry, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA
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- Lindahl, Mats (author)
- Linköpings universitet,Yrkes- och miljömedicin,Hälsouniversitetet
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- Hovingh, G Kees (author)
- Department of Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
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- Kuivenhoven, Jan Albert (author)
- Department of Experimental Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
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(creator_code:org_t)
- Elsevier, 2011
- 2011
- English.
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In: Cell Metabolism. - : Elsevier. - 1550-4131 .- 1932-7420. ; 14:6, s. 811-8
- Related links:
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http://www.cell.com/...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
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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.
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
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Holleboom, Adria ...
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Karlsson, Helen
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Lin, Ruei-Shiuan
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Beres, Thomas M
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Sierts, Jeroen A
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Herman, Daniel S
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show more...
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Stroes, Erik S G
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Aerts, Johannes ...
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Kastelein, John ...
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Motazacker, Moha ...
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Dallinga-Thie, G ...
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Levels, Johannes ...
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Zwinderman, Aeil ...
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Seidman, Jonatha ...
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Seidman, Christi ...
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Ljunggren, Stefa ...
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Lefeber, Dirk J
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Morava, Eva
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Wevers, Ron A
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Fritz, Timothy A
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Tabak, Lawrence ...
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Lindahl, Mats
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Hovingh, G Kees
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Kuivenhoven, Jan ...
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show less...
- Articles in the publication
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Cell Metabolism
- By the university
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Linköping University