Article
Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man.
Cell metabolism - 7 Dec 2011
Holleboom Adriaan G, Karlsson Helen, Lin Ruei-Shiuan, Beres Thomas M, Sierts Jeroen A, Herman Daniel S, Stroes Erik S G, Aerts Johannes M, Kastelein John J P, Motazacker Mohammad M, Dallinga-Thie Geesje M, Levels Johannes H M, Zwinderman Aeilko H, Seidman Jonathan G, Seidman Christine E, Ljunggren Stefan, Lefeber Dirk J, Morava Eva, Wevers Ron A, Fritz Timothy A, Tabak Lawrence A, Lindahl Mats, Hovingh G Kees, Kuivenhoven Jan Albert
Abstract excerpt
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...
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