PMC Links for GEO Profiles (Select 23730283) - PMC

Select item 64836411.

Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

Minna Pekkinen, Paulien A. Terhal, Lorenzo D. Botto, Petra Henning, Riikka E. Mäkitie, Paul Roschger, Amrita Jain, Matthijs Kol, Matti A. Kjellberg, Eleftherios P. Paschalis, Koen van Gassen, Mary Murray, Pinar Bayrak-Toydemir, Maria K. Magnusson, Judith Jans, Mehran Kausar, John C. Carey, Pentti Somerharju, Ulf H. Lerner, Vesa M. Olkkonen, Klaus Klaushofer, Joost C.M. Holthuis, Outi Mäkitie

JCI Insight. 2019 Apr 4; 4(7): e126180. Published online 2019 Apr 4. doi: 10.1172/jci.insight.126180

PMCID:: PMC6483641

Abstract Article PDF–1.4M

Select item 43737402.

Functional characterization of enzymes catalyzing ceramide phosphoethanolamine biosynthesis in mice

Andreas Bickert, Christina Ginkel, Matthijs Kol, Katharina vom Dorp, Holger Jastrow, Joachim Degen, René L. Jacobs, Dennis E. Vance, Elke Winterhager, Xian-Cheng Jiang, Peter Dörmann, Pentti Somerharju, Joost C. M. Holthuis, Klaus Willecke

J Lipid Res. 2015 Apr; 56(4): 821–835. doi: 10.1194/jlr.M055269

Correction in:: J Lipid Res. 2017 Apr; 58(4): 820.

PMCID:: PMC4373740

Abstract Article PDF–2.7M

Select item 43403023.

All members in the sphingomyelin synthase gene family have ceramide phosphoethanolamine synthase activity

Tingbo Ding, Inamul Kabir, Yue Li, Caixia Lou, Amirfarbod Yazdanyar, Jiachen Xu, Jibin Dong, Hongwen Zhou, Taesik Park, Mohamed Boutjdir, Zhiqiang Li, Xian-Cheng Jiang

J Lipid Res. 2015 Mar; 56(3): 537–545. doi: 10.1194/jlr.M054627