المؤلفون: Henstrom, M, Diekmann, L, Bonfiglio, F, Hadizadeh, F, Kuech, EM, von Kockritz-Blickwede, M, Thingholm, LB, Zheng, TH, Assadi, G, Dierks, C, Heine, M, Philipp, U, Distl, O, Money, ME, Belheouane, M, Heinsen, FA, Rafter, J, Nardone, G, Cuomo, R, Usai-Satta, P, Galeazzi, F, Neri, M, Walter, S, Simren, M, Karling, P, Ohlsson, B, Schmidt, PT, Lindberg, G, Dlugosz, A, Agreus, L, Andreasson, A, Mayer, E, Baines, JF, Engstrand, L, Portincasa, P, Bellini, M, Stanghellini, V, Barbara, G, Chang, L, Camilleri, M, Franke, A, Naim, HY, D'Amato, M

المصدر: Gut. 67(2):263-270

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:137397791

المؤلفون: Shammas H; Department of Physiological Chemistry, University of Veterinary Medicine Hannover, 30559, Hannover, Germany.; Clinic for Paediatric Kidney-, Liver-, and Metabolic Diseases, Hannover Medical School, 30625, Hannover, Germany., Kuech EM; Department of Physiological Chemistry, University of Veterinary Medicine Hannover, 30559, Hannover, Germany., Rizk S; Department of Natural Sciences, Lebanese American University, Beirut, 1102-2801, Lebanon., Das AM; Clinic for Paediatric Kidney-, Liver-, and Metabolic Diseases, Hannover Medical School, 30625, Hannover, Germany., Naim HY; Department of Physiological Chemistry, University of Veterinary Medicine Hannover, 30559, Hannover, Germany. Hassan.Naim@tiho-hannover.de.

المصدر: Scientific reports [Sci Rep] 2019 Mar 28; Vol. 9 (1), pp. 5292. Date of Electronic Publication: 2019 Mar 28.

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: MEDLINE

مواضيع طبية MeSH: Cholesterol/*metabolism , Intracellular Signaling Peptides and Proteins/*genetics , Niemann-Pick Disease, Type C/*genetics , Protein Domains/*genetics, Animals ; Biomarkers/analysis ; Biomarkers/metabolism ; COS Cells ; Calnexin/analysis ; Calnexin/metabolism ; Chlorocebus aethiops ; Endocytosis/genetics ; Endoplasmic Reticulum/metabolism ; Intracellular Signaling Peptides and Proteins/metabolism ; Intravital Microscopy ; Lysosomal-Associated Membrane Protein 2/analysis ; Lysosomal-Associated Membrane Protein 2/metabolism ; Lysosomes/metabolism ; Microscopy, Confocal ; Mutagenesis, Site-Directed ; Mutation ; Niemann-Pick C1 Protein ; Niemann-Pick Disease, Type C/diagnosis ; Niemann-Pick Disease, Type C/therapy ; Precision Medicine/methods ; Protein Binding/genetics

المؤلفون: Kuech EM; Department of Physiological Chemistry, University of Veterinary Medicine Hannover, Hannover, Germany. Electronic address: eva-maria.kuech@tiho-hannover.de., Brogden G; Department of Physiological Chemistry, University of Veterinary Medicine Hannover, Hannover, Germany; Fish Disease Research Unit, University of Veterinary Medicine Hannover, Hannover, Germany., Naim HY; Department of Physiological Chemistry, University of Veterinary Medicine Hannover, Hannover, Germany.

المصدر: Biochimie [Biochimie] 2016 Nov; Vol. 130, pp. 152-162. Date of Electronic Publication: 2016 Sep 21.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Editions Scientifiques Elsevier Country of Publication: France NLM ID: 1264604 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1638-6183 (Electronic) Linking ISSN: 03009084 NLM ISO Abbreviation: Biochimie Subsets: MEDLINE

مواضيع طبية MeSH: Cell Membrane/*metabolism , Glycoproteins/*metabolism , Lysosomal Storage Diseases/*metabolism , Lysosomes/*metabolism , Membrane Lipids/*metabolism, Biological Transport/physiology ; Cell Membrane/chemistry ; Glycoproteins/genetics ; Golgi Apparatus/metabolism ; Humans ; Lysosomal Storage Diseases/physiopathology ; Membrane Lipids/chemistry ; Models, Biological ; Mutation

المؤلفون: Amiri M; Department of Physiological Chemistry, University of Veterinary Medicine Hannover, Buenteweg 17, 30559, Hannover, Germany., Kuech EM; Department of Physiological Chemistry, University of Veterinary Medicine Hannover, Buenteweg 17, 30559, Hannover, Germany., Shammas H; Department of Physiological Chemistry, University of Veterinary Medicine Hannover, Buenteweg 17, 30559, Hannover, Germany., Wetzel G; Department of Physiological Chemistry, University of Veterinary Medicine Hannover, Buenteweg 17, 30559, Hannover, Germany., Naim HY; Department of Physiological Chemistry, University of Veterinary Medicine Hannover, Buenteweg 17, 30559, Hannover, Germany. Hassan.Naim@tiho-hannover.de.

المصدر: JIMD reports [JIMD Rep] 2016; Vol. 25, pp. 25-29. Date of Electronic Publication: 2015 Jun 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE