Article
Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents.
Cell metabolism - 9 Aug 2016
Khetarpal Sumeet A, Schjoldager Katrine T, Christoffersen Christina, Raghavan Avanthi, Edmondson Andrew C, Reutter Heiko M, Ahmed Bouhouche, Ouazzani Reda, Peloso Gina M, Vitali Cecilia, Zhao Wei, Somasundara Amritha Varshini Hanasoge, Millar John S, Park YoSon, Fernando Gayani, Livanov Valentin, Choi Seungbum, Noé Eric, Patel Pritesh, Ho Siew Peng, Kirchgessner Todd G, Wandall Hans H, Hansen Lars, Bennett Eric P, Vakhrushev Sergey Y, Saleheen Danish, Kathiresan Sekar, Brown Christopher D, Abou Jamra Rami, LeGuern Eric, Clausen Henrik, Rader Daniel J
Abstract excerpt
Human genetics studies have implicated GALNT2, encoding GalNAc-T2, as a regulator of high-density lipoprotein cholesterol (HDL-C) metabolism, but the mechanisms relating GALNT2 to HDL-C remain unclear. We investigated the impact of homozygous GALNT2 deficiency on HDL-C in humans and mammalian models. We identified two humans homozygous for loss-of-function mutations in GALNT2 who demonstrated low HDL-C. We also...
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