Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.

Autor: Pekkinen M; Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland, and Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Finland.; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands., Botto LD; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA., Henning P; Centre for Bone and Arthritis Research, Department of Internal Medicine and Clinical Nutrition, Institute for Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Mäkitie RE; Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland, and Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Finland., Roschger P; Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Medical Department, Hanusch Hospital, Vienna, Austria., Jain A; Molecular Cell Biology Division, Department of Biology/Chemistry, University of Osnabrück, Osnabrück, Germany., Kol M; Molecular Cell Biology Division, Department of Biology/Chemistry, University of Osnabrück, Osnabrück, Germany., Kjellberg MA; Department of Biochemistry and Developmental Biology, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Paschalis EP; Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Medical Department, Hanusch Hospital, Vienna, Austria., van Gassen K; Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands., Murray M; Division of Pediatric Endocrinology & Diabetes, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA., Bayrak-Toydemir P; Department of Pathology, University of Utah, Salt Lake City, Utah, USA, and ARUP Laboratories, Salt Lake City, Utah, USA., Magnusson MK; Department of Microbiology and Immunology, Institute for Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Jans J; Laboratory of Metabolic Diseases, University Medical Center Utrecht, Utrecht, Netherlands., Kausar M; Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland, and Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Finland., Carey JC; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA., Somerharju P; Department of Biochemistry and Developmental Biology, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Lerner UH; Centre for Bone and Arthritis Research, Department of Internal Medicine and Clinical Nutrition, Institute for Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Olkkonen VM; Minerva Foundation Institute for Medical Research, Biomedicum, Helsinki, Finland, and Department of Anatomy, Faculty of Medicine, University of Helsinki, Helsinki,Finland., Klaushofer K; Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Medical Department, Hanusch Hospital, Vienna, Austria., Holthuis JC; Molecular Cell Biology Division, Department of Biology/Chemistry, University of Osnabrück, Osnabrück, Germany.; Biochemistry and Biophysics Division, Bijvoet Center and Institute of Biomembranes, Utrecht University, Utrecht, Netherlands., Mäkitie O; Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland, and Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Finland.; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Department of Molecular Medicine and Surgery, Karolinska Institutet, and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.

Publikováno v: JCI insight [JCI Insight] 2019 Apr 04; Vol. 4 (7). Date of Electronic Publication: 2019 Apr 04 (Print Publication: 2019).

ER residency of the ceramide phosphoethanolamine synthase SMSr relies on homotypic oligomerization mediated by its SAM domain.

Autor: Cabukusta B; Molecular Cell Biology Division, Faculty of Biology/Chemistry, University of Osnabrück, 49076 Osnabrück, Germany., Kol M; Molecular Cell Biology Division, Faculty of Biology/Chemistry, University of Osnabrück, 49076 Osnabrück, Germany., Kneller L; Molecular Cell Biology Division, Faculty of Biology/Chemistry, University of Osnabrück, 49076 Osnabrück, Germany., Hilderink A; Molecular Cell Biology Division, Faculty of Biology/Chemistry, University of Osnabrück, 49076 Osnabrück, Germany., Bickert A; Molecular Genetics, Life and Medical Sciences Institute, University of Bonn, 53115 Bonn, Germany., Mina JG; Molecular Cell Biology Division, Faculty of Biology/Chemistry, University of Osnabrück, 49076 Osnabrück, Germany., Korneev S; Molecular Cell Biology Division, Faculty of Biology/Chemistry, University of Osnabrück, 49076 Osnabrück, Germany., Holthuis JC; Molecular Cell Biology Division, Faculty of Biology/Chemistry, University of Osnabrück, 49076 Osnabrück, Germany.

Publikováno v: Scientific reports [Sci Rep] 2017 Jan 25; Vol. 7, pp. 41290. Date of Electronic Publication: 2017 Jan 25.

Switching head group selectivity in mammalian sphingolipid biosynthesis by active-site engineering of sphingomyelin synthases.

Autor: Kol M; Molecular Cell Biology Division, Department of Biology/Chemistry, University of Osnabrück, 49076 Osnabrück, Germany Membrane Biochemistry & Biophysics, Bijvoet Center and Institute of Biomembranes, Utrecht University, 3584 CH Utrecht, The Netherlands., Panatala R; Molecular Cell Biology Division, Department of Biology/Chemistry, University of Osnabrück, 49076 Osnabrück, Germany Membrane Biochemistry & Biophysics, Bijvoet Center and Institute of Biomembranes, Utrecht University, 3584 CH Utrecht, The Netherlands., Nordmann M; Molecular Cell Biology Division, Department of Biology/Chemistry, University of Osnabrück, 49076 Osnabrück, Germany., Swart L; Membrane Biochemistry & Biophysics, Bijvoet Center and Institute of Biomembranes, Utrecht University, 3584 CH Utrecht, The Netherlands., van Suijlekom L; Membrane Biochemistry & Biophysics, Bijvoet Center and Institute of Biomembranes, Utrecht University, 3584 CH Utrecht, The Netherlands., Cabukusta B; Molecular Cell Biology Division, Department of Biology/Chemistry, University of Osnabrück, 49076 Osnabrück, Germany., Hilderink A; Molecular Cell Biology Division, Department of Biology/Chemistry, University of Osnabrück, 49076 Osnabrück, Germany., Grabietz T; Molecular Cell Biology Division, Department of Biology/Chemistry, University of Osnabrück, 49076 Osnabrück, Germany., Mina JG; Molecular Cell Biology Division, Department of Biology/Chemistry, University of Osnabrück, 49076 Osnabrück, Germany., Somerharju P; Medical Biochemistry, Institute of Biomedicine, University of Helsinki, Helsinki 00014, Finland., Korneev S; Molecular Cell Biology Division, Department of Biology/Chemistry, University of Osnabrück, 49076 Osnabrück, Germany., Tafesse FG; Molecular Microbiology & Immunology, Oregon Health & Science University, Portland, OR 97239., Holthuis JC; Molecular Cell Biology Division, Department of Biology/Chemistry, University of Osnabrück, 49076 Osnabrück, Germany Membrane Biochemistry & Biophysics, Bijvoet Center and Institute of Biomembranes, Utrecht University, 3584 CH Utrecht, The Netherlands holthuis@uos.de.

Publikováno v: Journal of lipid research [J Lipid Res] 2016 Jul; Vol. 57 (7), pp. 1273-85. Date of Electronic Publication: 2016 May 10.

Functional characterization of enzymes catalyzing ceramide phosphoethanolamine biosynthesis in mice.

Autor: Bickert A; Molecular Genetics, Life, and Medical Sciences Institute University of Bonn, 53115 Bonn, Germany., Ginkel C; Molecular Genetics, Life, and Medical Sciences Institute University of Bonn, 53115 Bonn, Germany., Kol M; Molecular Cell Biology Division, Department of Biology/Chemistry, University of Osnabrück, 49076 Osnabrück, Germany., vom Dorp K; Institute of Molecular Physiology and Biotechnology of Plants, University of Bonn, 53115 Bonn, Germany., Jastrow H; Imaging Center Essen, Electron Microscopy Unit, University Hospital University of Duisburg-Essen, 45147 Essen, Germany., Degen J; Molecular Genetics, Life, and Medical Sciences Institute University of Bonn, 53115 Bonn, Germany., Jacobs RL; Departments of Agricultural, Food, and Nutritional Science, Molecular and Cell Biology of Lipids, University of Alberta, T6G 2S2 Edmonton, Canada., Vance DE; Biochemistry, University of Alberta, T6G 2S2 Edmonton, Canada., Winterhager E; Department of Molecular Biology, University of Duisburg-Essen, 45147 Essen, Germany., Jiang XC; Department of Anatomy and Cell Biology, SUNY Downstate Medical Center, Brooklyn, NY 11203., Dörmann P; Institute of Molecular Physiology and Biotechnology of Plants, University of Bonn, 53115 Bonn, Germany., Somerharju P; Medical Biochemistry, Institute of Biomedicine, University of Helsinki, 00014 Helsinki, Finland., Holthuis JC; Molecular Cell Biology Division, Department of Biology/Chemistry, University of Osnabrück, 49076 Osnabrück, Germany., Willecke K; Molecular Genetics, Life, and Medical Sciences Institute University of Bonn, 53115 Bonn, Germany.

Publikováno v: Journal of lipid research [J Lipid Res] 2015 Apr; Vol. 56 (4), pp. 821-35. Date of Electronic Publication: 2015 Feb 09.

Lipid landscapes and pipelines in membrane homeostasis.

Autor: Holthuis JC; 1] Fachbereich Biologie/Chemie, University of Osnabrück, Barbarastrasse 13, 49076 Osnabrück, Germany. [2] Membrane Biochemistry & Biophysics, Bijvoet Center for Biomolecular Research and Institute of Biomembranes, Utrecht University, the Netherlands., Menon AK; Department of Biochemistry, Weill Cornell Medical College, 1300 York Avenue, New York, NY 10065, USA.

Publikováno v: Nature [Nature] 2014 Jun 05; Vol. 510 (7503), pp. 48-57.