Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
Brain : A Journal Of Neurology
Zilmer, Monica M; Edmondson, Andrew C AC; Khetarpal, Sumeet A SA; Alesi, Viola V; Zaki, Maha S MS; Rostasy, Kevin K; Madsen, Camilla G CG; Lepri, Francesca R FR; Sinibaldi, Lorenzo L; Cusmai, Raffaella R; Novelli, Antonio A; Issa, Mahmoud Y MY; Fenger, Christina D CD; Abou Jamra, Rami R; Reutter, Heiko H; Briuglia, Silvana S; Agolini, Emanuele E; Hansen, Lars L; Petäjä-Repo, Ulla E UE; Hintze, John J; Raymond, Kimiyo M KM; Liedtke, Kristen K; Stanley, Valentina V; Musaev, Damir D; Gleeson, Joseph G JG; Vitali, Cecilia C; O'Brien, W Timothy WT; Gardella, Elena E; Rubboli, Guido G; Rader, Daniel J DJ; Schjoldager, Katrine T KT; Møller, Rikke S RS
Publication Date: 2020-04-01
Variant appearance in text: GALNT2: 865C>T; Gln289*
Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents.
Cell Metabolism
Khetarpal, Sumeet A SA; Schjoldager, Katrine T KT; Christoffersen, Christina C; Raghavan, Avanthi A; Edmondson, Andrew C AC; Reutter, Heiko M HM; Ahmed, Bouhouche B; Ouazzani, Reda R; Peloso, Gina M GM; Vitali, Cecilia C; Zhao, Wei W; Somasundara, Amritha Varshini Hanasoge AV; Millar, John S JS; Park, YoSon Y; Fernando, Gayani G; Livanov, Valentin V; Choi, Seungbum S; Noé, Eric E; Patel, Pritesh P; Ho, Siew Peng SP; , ; Kirchgessner, Todd G TG; Wandall, Hans H HH; Hansen, Lars L; Bennett, Eric P EP; Vakhrushev, Sergey Y SY; Saleheen, Danish D; Kathiresan, Sekar S; Brown, Christopher D CD; Abou Jamra, Rami R; LeGuern, Eric E; Clausen, Henrik H; Rader, Daniel J DJ