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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. Among authors: vitali c. Brain. 2020 Apr 1;143(4):1114-1126. doi: 10.1093/brain/awaa063. Brain. 2020. PMID: 32293671 Free PMC article.
Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents.
Khetarpal SA, Schjoldager KT, Christoffersen C, Raghavan A, Edmondson AC, Reutter HM, Ahmed B, Ouazzani R, Peloso GM, Vitali C, Zhao W, Somasundara AV, Millar JS, Park Y, Fernando G, Livanov V, Choi S, Noé E, Patel P, Ho SP; Myocardial Infarction Exome Sequencing Study; Kirchgessner TG, Wandall HH, Hansen L, Bennett EP, Vakhrushev SY, Saleheen D, Kathiresan S, Brown CD, Abou Jamra R, LeGuern E, Clausen H, Rader DJ. Khetarpal SA, et al. Among authors: vitali c. Cell Metab. 2016 Aug 9;24(2):234-45. doi: 10.1016/j.cmet.2016.07.012. Cell Metab. 2016. PMID: 27508872 Free PMC article.
Cell lipid metabolism modulators 2-bromopalmitate, D609, monensin, U18666A and probucol shift discoidal HDL formation to the smaller-sized particles: implications for the mechanism of HDL assembly.
Quach D, Vitali C, La FM, Xiao AX, Millar JS, Tang C, Rader DJ, Phillips MC, Lyssenko NN. Quach D, et al. Among authors: vitali c. Biochim Biophys Acta. 2016 Dec;1861(12 Pt A):1968-1979. doi: 10.1016/j.bbalip.2016.09.017. Epub 2016 Sep 24. Biochim Biophys Acta. 2016. PMID: 27671775
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. Among authors: vitali c. 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.
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. Among authors: vitali c. 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.
225 results