Ontology highlight
ABSTRACT:
SUBMITTER: Khetarpal SA
PROVIDER: S-EPMC5663192 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Cell metabolism 20160801 2
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 found that GALNT2 loss of function in mice, rats, and nonhuman primates decreased HDL ...[more]