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Endothelial lipase mediates efficient lipolysis of triglyceride-rich lipoproteins.
Khetarpal SA, Vitali C, Levin MG, Klarin D, Park J, Pampana A, Millar JS, Kuwano T, Sugasini D, Subbaiah PV, Billheimer JT, Natarajan P, Rader DJ. Khetarpal SA, et al. PLoS Genet. 2021 Sep 20;17(9):e1009802. doi: 10.1371/journal.pgen.1009802. eCollection 2021 Sep. PLoS Genet. 2021. PMID: 34543263 Free PMC article.
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
Zilmer M, Edmondson AC, Khetarpal SA, Alesi V, Zaki MS, Rostasy K, Madsen CG, Lepri FR, Sinibaldi L, Cusmai R, Novelli A, Issa MY, Fenger CD, Abou Jamra R, Reutter H, Briuglia S, Agolini E, Hansen L, Petäjä-Repo UE, Hintze J, Raymond KM, Liedtke K, Stanley V, Musaev D, Gleeson JG, Vitali C, O'Brien WT, Gardella E, Rubboli G, Rader DJ, Schjoldager KT, Møller RS. Zilmer M, et al. Brain. 2020 Apr 1;143(4):1114-1126. doi: 10.1093/brain/awaa063. Brain. 2020. PMID: 32293671 Free PMC article.
A human APOC3 missense variant and monoclonal antibody accelerate apoC-III clearance and lower triglyceride-rich lipoprotein levels.
Khetarpal SA, Zeng X, Millar JS, Vitali C, Somasundara AVH, Zanoni P, Landro JA, Barucci N, Zavadoski WJ, Sun Z, de Haard H, Toth IV, Peloso GM, Natarajan P, Cuchel M, Lund-Katz S, Phillips MC, Tall AR, Kathiresan S, DaSilva-Jardine P, Yates NA, Rader DJ. Khetarpal SA, et al. Nat Med. 2017 Sep;23(9):1086-1094. doi: 10.1038/nm.4390. Epub 2017 Aug 21. Nat Med. 2017. PMID: 28825717 Free PMC article.