Sökning: WFRF:(Lefeber Dirk J) >
Heterozygosity for ...
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Holleboom, Adriaan GDepartment of Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
(författare)
Heterozygosity for a Loss-of-Function Mutation in GALNT2 Improves Plasma Triglyceride Clearance in Man
- Artikel/kapitelEngelska2011
Förlag, utgivningsår, omfång ...
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Elsevier,2011
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printrdacarrier
Nummerbeteckningar
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LIBRIS-ID:oai:DiVA.org:liu-73069
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https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-73069URI
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https://doi.org/10.1016/j.cmet.2011.11.005DOI
Kompletterande språkuppgifter
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Språk:engelska
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Sammanfattning på:engelska
Ingår i deldatabas
Klassifikation
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Ämneskategori:ref swepub-contenttype
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Ämneskategori:art swepub-publicationtype
Anmärkningar
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Funding agencies|European Union| FP6-2005-LIFESCIHEALTH-6 037631 |Fondation Leducq Transatlantic Networks of Excellence||NWO| 40-00506-98-9001 |National Institute of Dental and Craniofacial Research (NIDCR), National Institutes of Health||Netherlands Organisation for Scientific Research| 021.001.035 |Netherlands Heart Foundation| 2010T082 |
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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.
Biuppslag (personer, institutioner, konferenser, titlar ...)
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Karlsson, HelenÖstergötlands Läns Landsting,Linköpings universitet,Yrkes- och miljömedicin,Hälsouniversitetet,Arbets- och miljömedicin(Swepub:liu)helka90
(författare)
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Lin, Ruei-ShiuanSection on Biological Chemistry, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA
(författare)
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Beres, Thomas MSection on Biological Chemistry, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA
(författare)
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Sierts, Jeroen ADepartment of Experimental Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
(författare)
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Herman, Daniel SDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA
(författare)
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Stroes, Erik S GDepartment of Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
(författare)
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Aerts, Johannes MDepartment of Medical Biochemistry, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
(författare)
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Kastelein, John J PDepartment of Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
(författare)
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Motazacker, Mohammad MDepartment of Experimental Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
(författare)
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Dallinga-Thie, Geesje MDepartment of Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
(författare)
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Levels, Johannes H MDepartment of Experimental Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
(författare)
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Zwinderman, Aeilko HDepartment of Clinical Epidemiology, Biostatistics, and Bioinformatics, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
(författare)
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Seidman, Jonathan GDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA
(författare)
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Seidman, Christine EDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA
(författare)
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Ljunggren, StefanLinköpings universitet,Yrkes- och miljömedicin,Hälsouniversitetet(Swepub:liu)stelj68
(författare)
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Lefeber, Dirk JDepartment of Neurology, Radboud University Nijmegen Medical Center, Nijmegen 6525GA, The Netherlands
(författare)
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Morava, EvaInstitute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, Nijmegen 6525GA, The Netherlands
(författare)
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Wevers, Ron ADepartment of Laboratory Medicine, Radboud University Nijmegen Medical Center, Nijmegen 6525GA, The Netherlands
(författare)
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Fritz, Timothy AFood and Drug Administration, Rockville, MD 20852, USA
(författare)
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Tabak, Lawrence ASection on Biological Chemistry, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA
(författare)
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Lindahl, MatsLinköpings universitet,Yrkes- och miljömedicin,Hälsouniversitetet(Swepub:liu)matli17
(författare)
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Hovingh, G KeesDepartment of Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
(författare)
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Kuivenhoven, Jan AlbertDepartment of Experimental Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The Netherlands
(författare)
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Department of Vascular Medicine, Academic Medical Center, Amsterdam 1105AZ, The NetherlandsYrkes- och miljömedicin
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:Cell Metabolism: Elsevier14:6, s. 811-81550-41311932-7420
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Till lärosätets databas
- Av författaren/redakt...
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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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visa fler...
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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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- Artiklar i publikationen
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Cell Metabolism
- Av lärosätet
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Linköpings universitet