المؤلفون: AndréR.A. Marques, Mina Mirzaian, Hisako Akiyama, Patrick Wisse, Maria J. Ferraz, Paulo Gaspar, Karen Ghauharali-van der Vlugt, Rianne Meijer, Pilar Giraldo, Pilar Alfonso, Pilar Irún, Maria Dahl, Stefan Karlsson, Elena V. Pavlova, Timothy M. Cox, Saskia Scheij, Marri Verhoek, Roelof Ottenhoff, CindyP.A.A. van Roomen, Navraj S. Pannu, Marco van Eijk, Nick Dekker, Rolf G. Boot, Herman S. Overkleeft, Edward Blommaart, Yoshio Hirabayashi, Johannes M. Aerts

المصدر: Journal of Lipid Research, Vol 57, Iss 3, Pp 451-463 (2016)

مصطلحات موضوعية: glucosyl-β-D-cholesterol, glucosylceramide, glucocerebrosidase, Gaucher disease, Niemann-Pick type C disease, Biochemistry, QD415-436

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0022227520354444Test; https://doaj.org/toc/0022-2275Test

الوصول الحر: https://doaj.org/article/57f08df9b338494281ce0b82ea7d752aTest

المؤلفون: Chi-Lin Kuo, Rolf G. Boot, Marta Artola, Qin Su, Lindsey T. Lelieveld, Marri Verhoek, Sybrin P. Schröder, Maria J. Ferraz, Herman S. Overkleeft, Johannes M. F. G. Aerts

المصدر: Chembiochem
Chembiochem, 22, 1-10. WILEY-V C H VERLAG GMBH

مصطلحات موضوعية: Molecular Conformation, Gaucher disease, Xylose, Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, In vivo, GBA3, activity-based probe, Animals, Humans, Glycoside hydrolase, Enzyme Inhibitors, Molecular Biology, Cells, Cultured, Zebrafish, 030304 developmental biology, 0303 health sciences, Full Paper, Chemistry, glucocerebrosidase, Organic Chemistry, Full Papers, Cyclohexanols, In vitro, 3. Good health, Cyclophellitol, HEK293 Cells, cyclophellitol, Molecular Medicine, Glucosylceramidase, Glucocerebrosidase, 030217 neurology & neurosurgery, Conduritol, conduritol B-epoxide

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::051ee41c7214160b3f631d67d2be9f0eTest
http://europepmc.org/articles/PMC8596838Test

المؤلفون: Adrianus M. C. H. van den Nieuwendijk, Daniel Mink, Veronica Coco Rohde, Gijsbert A. van der Marel, Jianbing Jiang, Daniel W. Wright, Bogdan I. Florea, Johannes M. F. G. Aerts, Gideon J. Davies, Wouter W. Kallemeijn, Hans van den Elst, Wilma E. Donker-Koopman, Martin Schürmann, Nan Li, Rolf G. Boot, Saskia Scheij, Marri Verhoek, Jeroen D. C. Codée, Herman S. Overkleeft, Elisa Colomina Folch

المساهمون: Other departments, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, ACS - Amsterdam Cardiovascular Sciences

المصدر: CHEMICAL SCIENCE, 6(5), 2782-2789. Royal Society of Chemistry
Chemical Science, 6(5), 2782-2789

مصطلحات موضوعية: biology, genetic structures, 010405 organic chemistry, Stereochemistry, Chemistry, Activity-based proteomics, Active site, Stereoisomerism, General Chemistry, 010402 general chemistry, medicine.disease, biology.organism_classification, 01 natural sciences, Fucosidosis, In vitro, 0104 chemical sciences, 3. Good health, Biochemistry, In vivo, Hydrolase, medicine, biology.protein, Bacteria

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9c1b0655d1799327f935b9d7fee32e0Test
https://doi.org/10.1039/c4sc03739aTest

المؤلفون: Daniela Herrera Moro, Bogdan I. Florea, Timothy M. Cox, Olivier R. Martin, Marri Verhoek, Saskia Scheij, André R. A. Marques, Nee Na Kim, Wouter W. Kallemeijn, Rolf G. Boot, Jessica K. Nelson, Herman S. Overkleeft, Lianne I. Willems, Roelof Ottenhoff, Johannes M. F. G. Aerts, Cindy P. A. A. van Roomen, M. Begoña Cachón-González, Anna Biela-Banas

المساهمون: Medical Biochemistry, Graduate School, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Cardiovascular Sciences, ACS - Atherosclerosis & ischemic syndromes, ACS - Diabetes & metabolism

المصدر: Chembiochem, 18(4), 402-412. Wiley-VCH Verlag

مصطلحات موضوعية: 0301 basic medicine, 010402 general chemistry, medicine.disease_cause, 01 natural sciences, Biochemistry, 03 medical and health sciences, Galactosylceramidase, Hydrolase, medicine, Beta-galactosidase, Molecular Biology, chemistry.chemical_classification, Mutation, biology, Molecular Structure, Organic Chemistry, medicine.disease, 0104 chemical sciences, Leukodystrophy, Globoid Cell, Lysosomal Storage Diseases, 030104 developmental biology, Enzyme, chemistry, Molecular Probes, biology.protein, Krabbe disease, Molecular Medicine, Specific activity, Molecular probe, Deficiency Diseases

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5408323f10bcb551113378d4c12edaaaTest
https://hdl.handle.net/1887/3199629Test

المؤلفون: Rolf G. Boot, Bogdan I. Florea, Jeroen D. C. Codée, Wilma E. Donker-Koopman, Benjamin Murray, Saskia Scheij, Wouter W. Kallemeijn, Marri Verhoek, Herman S. Overkleeft, Johannes M. F. G. Aerts, Thomas J. M. Beenakker, Gijsbert A. van der Marel, Lianne I. Willems, Maria J. Ferraz, Erwin R. van Rijssel

المساهمون: Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, Graduate School, Amsterdam Cardiovascular Sciences

المصدر: Journal of the American Chemical Society, 136(33), 11622-11625. American Chemical Society

مصطلحات موضوعية: Cell type, Aziridines, Endogeny, 010402 general chemistry, 01 natural sciences, Biochemistry, Catalysis, 03 medical and health sciences, Structure-Activity Relationship, Colloid and Surface Chemistry, α galactosidase, medicine, Structure–activity relationship, Humans, 030304 developmental biology, Fluorescent Dyes, 0303 health sciences, Dose-Response Relationship, Drug, Molecular Structure, Chemistry, General Chemistry, medicine.disease, Fabry disease, 0104 chemical sciences, 3. Good health, alpha-Galactosidase, Active enzyme

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1757c3ffcec39116e9bfc8ac48e3911Test
https://doi.org/10.1021/ja507040nTest

المؤلفون: Marri Verhoek, Hermen S. Overkleeft, Johannes M. F. G. Aerts, Rolf G. Boot, Wouter W. Kallemeijn, Tineke Voorn-Brouwer, Martin D. Witte, Saskia Scheij

المساهمون: Chemical Biology 2, Other departments, Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, Amsterdam Cardiovascular Sciences

المصدر: ChemBioChem, 17(18), 1698-1704. WILEY-V C H VERLAG GMBH
Chembiochem, 17(18), 1698-1704. Wiley-VCH Verlag

مصطلحات موضوعية: 0301 basic medicine, In situ, Glycan, genetic structures, activity-based probes, EGCaseII, Recombinant Fusion Proteins, Context (language use), Biology, Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, RETAINING BETA-GLUCOSIDASES, Biotin, fluorescent probes, Mannosidases, Rhodococcus, LIVING CELLS, Molecular Biology, protein expression, Fluorescent Dyes, CELL-SURFACE GLYCOSPHINGOLIPIDS, SINGLET OXYGEN, PURIFICATION, ENDOGLYCOCERAMIDASE, Molecular Structure, DERIVATIVES, IN-SITU, Organic Chemistry, Fluorescence, Fusion protein, LIVE CELLS, In vitro, in-gel imaging, CYCLOPHELLITOL, 030104 developmental biology, chemistry, biology.protein, microscopy, Molecular Medicine, Conduritol

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::401cc5ca43b156bbcf98a0fe06a90a18Test
https://pubmed.ncbi.nlm.nih.gov/27383447Test

المؤلفون: Saskia Scheij, Cécile M. J. Ouairy, Anneke Strijland, Marri Verhoek, Monique D. Appelman, Rolf G. Boot, André Marques, D. Lahav, Mina Mirzaian, Maria J. Ferraz, Herman S. Overkleeft, Patrick Wisse, Johannes M. F. G. Aerts

المساهمون: Graduate School, Other departments, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, ACS - Amsterdam Cardiovascular Sciences

المصدر: FEBS letters, 590(6), 716-725. Wiley-Blackwell

مصطلحات موضوعية: 0301 basic medicine, Male, Acid Ceramidase, Acylation, Biophysics, Biochemistry, Glycosphingolipids, 03 medical and health sciences, chemistry.chemical_compound, Mice, Structural Biology, Genetics, medicine, Animals, Humans, Glycoside hydrolase, Molecular Biology, Mice, Knockout, Alpha-galactosidase, Gaucher Disease, biology, Cell Biology, Glycosphingolipid, Metabolism, medicine.disease, Fabry disease, Glucosylceramidase, Disease Models, Animal, 030104 developmental biology, HEK293 Cells, chemistry, alpha-Galactosidase, biology.protein, Fabry Disease, Female, Lysosomes, Glucocerebrosidase

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acd5a38298fa91df3dfa4e3077a1dc56Test
https://doi.org/10.1002/1873-3468.12104Test

المؤلفون: Marco van Eijk, Rolf G. Boot, Yoshio Hirabayashi, E. F. C. Blommaart, Pilar Giraldo, Paulo Gaspar, Nick Dekker, Rianne Meijer, Roelof Ottenhoff, Mina Mirzaian, Elena Pavlova, Navraj S. Pannu, Maria Dahl, Pilar Irún, Johannes M. F. G. Aerts, Saskia Scheij, Karen Ghauharali-van der Vlugt, Stefan Karlsson, Timothy M. Cox, Maria J. Ferraz, Pilar Alfonso, Patrick Wisse, Herman S. Overkleeft, Marri Verhoek, André Marques, Hisako Akiyama, Cindy P. A. A. van Roomen

المساهمون: Pavlova, Elena [0000-0003-0187-5098], Cox, Timothy [0000-0002-4951-9941], Apollo - University of Cambridge Repository, Other departments, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, Graduate School, AII - Amsterdam institute for Infection and Immunity, ACS - Amsterdam Cardiovascular Sciences

المصدر: Journal of Lipid Research, Vol 57, Iss 3, Pp 451-463 (2016)
Journal of Lipid Research
Journal of lipid research, 57(3), 451-463. American Society for Biochemistry and Molecular Biology Inc.

مصطلحات موضوعية: 0301 basic medicine, Male, Glycosylation, Niemann-Pick type C disease, QD415-436, Biology, Biochemistry, Cercopithecus aethiops, 03 medical and health sciences, chemistry.chemical_compound, Mice, Endocrinology, Lysosome, glucosylceramide, Chlorocebus aethiops, medicine, Animals, Humans, Research Articles, Niemann-Pick Diseases, COS cells, Gaucher Disease, Cholesterol, glucocerebrosidase, beta-Glucosidase, glucosyl-β-D-cholesterol, Cell Biology, In vitro, Sterol, Cell biology, 030104 developmental biology, medicine.anatomical_structure, RAW 264.7 Cells, chemistry, COS Cells, biology.protein, Female, Glucocerebrosidase, Glucosidases

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ce37df56ec0df699dc973d8fe40b72fTest
https://doi.org/10.1194/jlr.m064923Test

المؤلفون: Johannes M. F. G. Aerts, Anton P. Bussink, Jocelyne Vreede, Wilma E. Donker-Koopman, Marri Verhoek, Carla E. M. Hollak, Karen Ghauharali-van der Vlugt, Rolf G. Boot, Richard R. Sprenger

المصدر: FEBS Journal. 276:5678-5688

مصطلحات موضوعية: Glycosylation, biology, Single-nucleotide polymorphism, Cell Biology, Biochemistry, law.invention, chemistry.chemical_compound, Protein structure, chemistry, law, Chitinase, Recombinant DNA, biology.protein, In patient, Allele, Molecular Biology, Allele frequency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1501ff514bbb263461c8c874783aa001Test
https://doi.org/10.1111/j.1742-4658.2009.07259.xTest

المؤلفون: Anneke Strijland, Rolf G. Boot, Tom Wennekes, Jan van Marle, Wilma E. Donker-Koopman, Johannes M. F. G. Aerts, Hermen S. Overkleeft, Marri Verhoek

المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, ACS - Amsterdam Cardiovascular Sciences

المصدر: Journal of Biological Chemistry, 282(2), 1305-1312
Journal of biological chemistry, 282(2), 1305-1312. American Society for Biochemistry and Molecular Biology Inc.
ResearcherID

مصطلحات موضوعية: Detergents, Molecular Sequence Data, Biology, Glucosylceramides, Transfection, Biochemistry, Bile Acids and Salts, Mice, Membrane Microdomains, RNA interference, Chlorocebus aethiops, Animals, Humans, Spermatogenesis, Molecular Biology, chemistry.chemical_classification, Gaucher Disease, COS cells, beta-Glucosidase, Glucosylceramidase activity, Cell Biology, Glucosylceramidase, Enzyme, chemistry, COS Cells, Lysosomes, Sphingomyelin, Glucocerebrosidase

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea6b77f40aaafe6ddd83efa6a84b8336Test
https://doi.org/10.1074/jbc.m610544200Test