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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: petaja repo ue. Brain. 2020 Apr 1;143(4):1114-1126. doi: 10.1093/brain/awaa063. Brain. 2020. PMID: 32293671 Free PMC article.
Site-specific O-Glycosylation by Polypeptide N-Acetylgalactosaminyltransferase 2 (GalNAc-transferase T2) Co-regulates β1-Adrenergic Receptor N-terminal Cleavage.
Goth CK, Tuhkanen HE, Khan H, Lackman JJ, Wang S, Narimatsu Y, Hansen LH, Overall CM, Clausen H, Schjoldager KT, Petäjä-Repo UE. Goth CK, et al. Among authors: petaja repo ue. J Biol Chem. 2017 Mar 17;292(11):4714-4726. doi: 10.1074/jbc.M116.730614. Epub 2017 Feb 6. J Biol Chem. 2017. PMID: 28167537 Free PMC article.
51 results