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TITLE: Current methods to analyze lysosome morphology, positioning, motility and function  Full Text
AUTHORS: Barral, Duarte C.; Staiano, Leopoldo; Guimas Almeida, Claudia; Cutler, Dan F.; Eden, Emily R.; Futter, Clare E.; Galione, Antony; Marques, Andre R. A.; Medina, Diego Luis; Napolitano, Gennaro; Settembre, Carmine; Vieira, Otilia V.; Aerts, Johannes M. F. G.; Atakpa Adaji, Peace; Bruno, Gemma; Capuozzo, Antonella; De Leonibus, Elvira; Di Malta, Chiara; Escrevente, Cristina; Esposito, Alessandra; Grumati, Paolo; Hall, Michael J.; Teodoro, Rita O.; Lopes, Susana S.; Luzio, J. Paul; Monfregola, Jlenia; Montefusco, Sandro; Platt, Frances M.; Polishchuck, Roman; De Risi, Maria; Sambri, Irene; Soldati, Chiara; Seabra, Miguel C.; ...More
PUBLISHED: 2022, SOURCE: TRAFFIC, VOLUME: 23, ISSUE: 5
INDEXED IN: Scopus WOS
2
TITLE: GCase and LIMP2 Abnormalities in the Liver of Niemann Pick Type C Mice  Full Text
AUTHORS: van der Lienden, MJC; Aten, J; Marques, ARA; Waas, ISE; Larsen, PWB; Claessen, N; van der Wel, NN; Ottenhoff, R; van Eijk, M; Aerts, JMFG;
PUBLISHED: 2021, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 22, ISSUE: 5
INDEXED IN: Scopus WOS
3
TITLE: Human glucocerebrosidase mediates formation of xylosyl-cholesterol by beta-xylosidase and transxylosidase reactions
AUTHORS: Boer, DE; Mirzaian, M; Ferraz, MJ; Zwiers, KC; Baks, MV; Hazeu, MD; Ottenhoff, R; Marques, ARA; Meijer, R; Roos, JCP; Cox, TM; Boot, RG; Pannu, N; Overkleeft, HS; Artola, M; Aerts, JM;
PUBLISHED: 2021, SOURCE: JOURNAL OF LIPID RESEARCH, VOLUME: 62
INDEXED IN: WOS
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TITLE: Simultaneous quantitation of sphingoid bases by UPLC-ESI-MS/MS with identical C-13-encoded internal standards  Full Text
AUTHORS: Mirzaian, M; Wisse, P; Ferraz, MJ; Marques, ARA; Gaspar, P; Oussoren, SV; Kytidou, K; Codee, JDC; van der Marel, G; Overkleeft, HS; Aerts, JM;
PUBLISHED: 2017, SOURCE: CLINICA CHIMICA ACTA, VOLUME: 466
INDEXED IN: WOS
5
TITLE: Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders  Full Text
AUTHORS: Maria J Ferraz; Andre R A Marques; Paulo Gaspar; Mina Mirzaian; Cindy van Roomen; Roelof Ottenhoff; Pilar Alfonso; Pilar Irun; Pilar Giraldo; Patrick Wisse; Clara Sa Miranda; Herman S Overkleeft; Johannes M Aerts;
PUBLISHED: 2016, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 117, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 32
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TITLE: Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models
AUTHORS: Gertjan Kramer; Wouter Wegdam; Wilma Donker Koopman; Roelof Ottenhoff; Paulo Gaspar; Marri Verhoek; Jessica Nelson; Tanit Gabriel; Wouter Kallemeijn; Rolf G Boot; Jon D Laman; Johannes P C Vissers; Timothy Cox; Elena Pavlova; Mary Teresa Moran; Johannes M Aerts; Marco van Eijk;
PUBLISHED: 2016, SOURCE: FEBS OPEN BIO, VOLUME: 6, ISSUE: 9
INDEXED IN: WOS
7
TITLE: Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis
AUTHORS: Paulo Gaspar; Wouter W Kallemeijn; Anneke Strijland; Saskia Scheij; Marco Van Eijk; Jan Aten; Herman S Overkleeft; Andrea Balreira; Friederike Zunke; Michael Schwake; Clara Sa Miranda; Johannes M F G Aerts;
PUBLISHED: 2014, SOURCE: JOURNAL OF LIPID RESEARCH, VOLUME: 55, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
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TITLE: LIMP-2 expression is critical for beta-glucocerebrosidase activity and alpha-synuclein clearance
AUTHORS: Michelle Rothaug; Friederike Zunke; Joseph R Mazzulli; Michaela Schweizer; Hermann Altmeppen; Renate Luellmann Rauch; Wouter W Kallemeijn; Paulo Gaspar; Johannes M Aerts; Markus Glatzel; Paul Saftig; Dimitri Krainc; Michael Schwake; Judith Blanz;
PUBLISHED: 2014, SOURCE: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, VOLUME: 111, ISSUE: 43
INDEXED IN: Scopus WOS CrossRef
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TITLE: Force Majeure: Therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease  Full Text
AUTHORS: Carla E M Hollak; Stephan vom Dahl; Johannes M F G Aerts; Nadia Belmatoug; Bruno Bembi; Yossi Cohen; Tanya Collin Histed; Patrick Deegan; Laura van Dussen; Pilar Giraldo; Eugen Mengel; Helen Michelakakis; Jeremy Manuel; Martin Hrebicek; Rosella Parini; Joerg Reinke; Maja di Rocco; Miguel Pocovi; Maria Clara S Sa Miranda ; Anna Tylki Szymanska; Ari Zimran; Timothy M Cox; ...More
PUBLISHED: 2010, SOURCE: BLOOD CELLS MOLECULES AND DISEASES, VOLUME: 44, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
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TITLE: The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement  Full Text
AUTHORS: Cox, TM; Aerts, JMFG; Andria, G; Beck, M; Belmatoug, N; Bembi, B; Chertkoff, R; Vom Dahl, S; Elstein, D; Erikson, A; Giralt, M; Heitner, R; Hollak, C; Hrebicek, M; Lewis, S; Mehta, A; Pastores, GM; Rolfs, A; Miranda, MCS ; Zimran, A;
PUBLISHED: 2003, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 26, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 167
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