المؤلفون: Sokoya, T, Parolek, J, Foged, MM, Danylchuk, DI, Bozan, M, Sarkar, B, Hilderink, A, Philippi, M, Botto, LD, Terhal, PA, Makitie, O, Piehler, J, Kim, Y, Burd, CG, Klymchenko, AS, Maeda, K, Holthuis, JC

المصدر: eLife. 11

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:150856405

المؤلفون: 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.

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

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: eCollection Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

مواضيع طبية MeSH: Calcification, Physiologic/*genetics , Membrane Proteins/*genetics , Nerve Tissue Proteins/*genetics , Osteochondrodysplasias/*genetics , Osteoporosis/*genetics , Transferases (Other Substituted Phosphate Groups)/*genetics, Adult ; Age of Onset ; Aged, 80 and over ; Bone and Bones/diagnostic imaging ; Bone and Bones/pathology ; Child ; Child, Preschool ; DNA Mutational Analysis ; Female ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Mutation, Missense ; Osteochondrodysplasias/diagnosis ; Osteochondrodysplasias/pathology ; Osteoporosis/diagnosis ; Osteoporosis/pathology ; Pedigree ; Young Adult

المؤلفون: Kol M; Department of Biology/Chemistry, University of Osnabrück, Osnabrück, Germany., Williams B; Department of Chemistry, Ludwig Maximilians University Munich, Munich, Germany., Toombs-Ruane H; Department of Chemistry, Ludwig Maximilians University Munich, Munich, Germany., Franquelim HG; Department of Cellular and Molecular Biophysics, Max Planck Institute of Biochemistry, Martinsried, Germany., Korneev S; Department of Biology/Chemistry, University of Osnabrück, Osnabrück, Germany., Schroeer C; Department of Biology/Chemistry, University of Osnabrück, Osnabrück, Germany., Schwille P; Department of Cellular and Molecular Biophysics, Max Planck Institute of Biochemistry, Martinsried, Germany., Trauner D; Department of Chemistry, New York University, New York, United States., Holthuis JC; Department of Biology/Chemistry, University of Osnabrück, Osnabrück, Germany., Frank JA; The Vollum Institute, Oregon Health and Science University, Portland, United States.

المصدر: ELife [Elife] 2019 Feb 05; Vol. 8. Date of Electronic Publication: 2019 Feb 05.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

مواضيع طبية MeSH: Light*, Ceramides/*metabolism , Ceramides/*radiation effects , Sphingolipids/*biosynthesis, Complex Mixtures ; Glucosyltransferases/metabolism ; HeLa Cells ; Humans ; Transferases (Other Substituted Phosphate Groups)/metabolism ; Yeasts/enzymology

المؤلفون: 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.

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

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: PubMed not MEDLINE

المؤلفون: Jain A; Molecular Cell Biology Division, Department of Biology/Chemistry, University of Osnabrück, Osnabrück D-49076, Germany., Beutel O; Molecular Cell Biology Division, Department of Biology/Chemistry, University of Osnabrück, Osnabrück D-49076, Germany.; Max-Planck-Institute for Molecular Cell Biology and Genetics, Dresden D-01307, Germany., Ebell K; Molecular Cell Biology Division, Department of Biology/Chemistry, University of Osnabrück, Osnabrück D-49076, Germany., Korneev S; Molecular Cell Biology Division, Department of Biology/Chemistry, University of Osnabrück, Osnabrück D-49076, Germany., Holthuis JC; Molecular Cell Biology Division, Department of Biology/Chemistry, University of Osnabrück, Osnabrück D-49076, Germany holthuis@uos.de.; Membrane Biochemistry & Biophysics, Bijvoet Center and Institute of Biomembranes, Utrecht University, Utrecht 3584 CH, The Netherlands.

المصدر: Journal of cell science [J Cell Sci] 2017 Jan 15; Vol. 130 (2), pp. 360-371. Date of Electronic Publication: 2016 Nov 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Company of Biologists Country of Publication: England NLM ID: 0052457 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1477-9137 (Electronic) Linking ISSN: 00219533 NLM ISO Abbreviation: J Cell Sci Subsets: MEDLINE

مواضيع طبية MeSH: Apoptosis*, Ceramides/*metabolism , Mitochondria/*metabolism , Protein Serine-Threonine Kinases/*metabolism , bcl-2-Associated X Protein/*metabolism, Biocatalysis ; Biological Transport ; Endoplasmic Reticulum/metabolism ; HeLa Cells ; Humans ; Protein Binding ; Protein Transport ; Vesicular Transport Proteins/metabolism ; bcl-2 Homologous Antagonist-Killer Protein/metabolism

المؤلفون: 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.

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

نوع المنشور: Journal Article; Retracted Publication

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0376606 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1539-7262 (Electronic) Linking ISSN: 00222275 NLM ISO Abbreviation: J Lipid Res Subsets: MEDLINE

مواضيع طبية MeSH: Protein Engineering*, Membrane Proteins/*genetics , Nerve Tissue Proteins/*genetics , Sphingomyelins/*biosynthesis , Transferases (Other Substituted Phosphate Groups)/*genetics, Cell Membrane/enzymology ; Cell Membrane/metabolism ; Cell-Free System ; Click Chemistry ; Endoplasmic Reticulum/enzymology ; Golgi Apparatus/enzymology ; HeLa Cells ; Humans ; Membrane Proteins/chemistry ; Mutagenesis, Site-Directed ; Nerve Tissue Proteins/chemistry ; Sphingomyelins/genetics ; Transferases (Other Substituted Phosphate Groups)/chemistry

المؤلفون: Panatala R; Department of Membrane Enzymology, Bijvoet Center and Institute of Biomembranes, Utrecht University, 3584 Utrecht, The Netherlands Molecular Cell Biology Division, University of Osnabrück, 49076 Osnabrück, Germany., Hennrich H; Department of Membrane Enzymology, Bijvoet Center and Institute of Biomembranes, Utrecht University, 3584 Utrecht, The Netherlands., Holthuis JC; Department of Membrane Enzymology, Bijvoet Center and Institute of Biomembranes, Utrecht University, 3584 Utrecht, The Netherlands Molecular Cell Biology Division, University of Osnabrück, 49076 Osnabrück, Germany holthuis@uos.de.

المصدر: Journal of cell science [J Cell Sci] 2015 Jun 01; Vol. 128 (11), pp. 2021-32. Date of Electronic Publication: 2015 Apr 27.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Company of Biologists Country of Publication: England NLM ID: 0052457 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1477-9137 (Electronic) Linking ISSN: 00219533 NLM ISO Abbreviation: J Cell Sci Subsets: MEDLINE

مواضيع طبية MeSH: Phospholipid Transfer Proteins/*metabolism , Phospholipids/*metabolism, Animals ; Cell Membrane/metabolism ; Endosomes/metabolism ; Humans ; trans-Golgi Network/metabolism

المؤلفون: 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.

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

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0376606 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1539-7262 (Electronic) Linking ISSN: 00222275 NLM ISO Abbreviation: J Lipid Res Subsets: MEDLINE

مواضيع طبية MeSH: Biocatalysis*, Sphingomyelins/*biosynthesis , Transferases (Other Substituted Phosphate Groups)/*metabolism, Animals ; Brain/cytology ; Brain/enzymology ; Brain/metabolism ; Catalytic Domain ; Cell Survival ; Enzyme Activation ; Exons/genetics ; Gene Deletion ; Gene Expression Regulation, Enzymologic ; Liver/cytology ; Liver/enzymology ; Liver/metabolism ; Male ; Mice ; Mice, Inbred C57BL ; Organ Specificity ; Phosphatidylethanolamine N-Methyltransferase/metabolism ; Point Mutation ; Protein Transport ; Sphingomyelins/metabolism ; Transferases (Other Substituted Phosphate Groups)/chemistry ; Transferases (Other Substituted Phosphate Groups)/deficiency ; Transferases (Other Substituted Phosphate Groups)/genetics

المؤلفون: Haberkant P; European Molecular Biology Laboratory, Meyerhofstrasse 1, 69117 Heidelberg, Germany. Electronic address: per.haberkant@embl.de., Holthuis JC; Molecular Cell Biology, University of Osnabrück, Barbarastrasse 13, 49076 Osnabrück, Germany. Electronic address: joost.holthuis@biologie.uni-osnabrueck.de.

المصدر: Biochimica et biophysica acta [Biochim Biophys Acta] 2014 Aug; Vol. 1841 (8), pp. 1022-30. Date of Electronic Publication: 2014 Jan 15.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Elsevier Pub. Co Country of Publication: Netherlands NLM ID: 0217513 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0006-3002 (Print) Linking ISSN: 00063002 NLM ISO Abbreviation: Biochim Biophys Acta Subsets: MEDLINE

مواضيع طبية MeSH: Lipids/*physiology, Lipids/chemistry ; Photochemical Processes ; Proteins/chemistry

المؤلفون: 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.

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

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

مواضيع طبية MeSH: Homeostasis*, Intracellular Membranes/*chemistry , Intracellular Membranes/*metabolism , Membrane Lipids/*chemistry , Membrane Lipids/*metabolism, Animals ; Carrier Proteins/metabolism ; Humans ; Lipid Bilayers/chemistry ; Lipid Bilayers/metabolism ; Membrane Lipids/analysis ; Membrane Lipids/biosynthesis ; Organelles/chemistry ; Organelles/metabolism ; Sphingolipids/metabolism