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: 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: Carla E. M. Hollak, Mina Mirzaian, Patrick Wisse, Maria J. Ferraz, Herman S. Overkleeft, Johannes M. F. G. Aerts, Bouwien E. Smid, Marri Verhoek

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

المصدر: Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 11(1). BioMed Central
Orphanet Journal of Rare Diseases, 11, 28

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, 1-Deoxynojirimycin, Pyrrolidines, Disease, Glucosylceramides, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Miglustat, medicine, Humans, Genetics(clinical), Pharmacology (medical), Substrate reduction therapy, Enzyme Inhibitors, Genetics (clinical), Eliglustat, Chitotriosidase, Medicine(all), Gaucher Disease, business.industry, Research, CCL18, nutritional and metabolic diseases, General Medicine, Enzyme replacement therapy, Blood proteins, Glucosylceramidase, 030104 developmental biology, Endocrinology, 030220 oncology & carcinogenesis, Glucosylsphingosine, Glucosylceramide, Female, business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4346b8d3c90c6f1429341c58c8d6fce1Test
https://doi.org/10.1186/s13023-016-0413-3Test

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

المؤلفون: J. Aten, Marri Verhoek, Johannes M. F. G. Aerts, J. E. Groener, Rolf G. Boot, Frits A. Wijburg, S. Scheij, C. E. Hollak, J. Brinkman

المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Paediatric Metabolic Diseases, Endocrinology, Medical Biochemistry, Other departments, AII - Amsterdam institute for Infection and Immunity, Pathology, ACS - Amsterdam Cardiovascular Sciences

المصدر: ResearcherID
Journal of inherited metabolic disease, 28(1), 13-20. Springer Netherlands

مصطلحات موضوعية: medicine.medical_specialty, Hepatosplenomegaly, Bone Marrow Cells, Biology, Asymptomatic, Central nervous system disease, Internal medicine, Blood plasma, Genetics, medicine, Humans, Pathological, Genetics (clinical), Family Health, Niemann-Pick Diseases, Gaucher Disease, Homozygote, CCL18, Infant, Lipid Metabolism, medicine.disease, Immunohistochemistry, Hexosaminidases, Sphingomyelin Phosphodiesterase, Endocrinology, Chemokines, CC, Mutation, Female, medicine.symptom, Acid sphingomyelinase, Niemann–Pick disease, Foam Cells, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9b6ce190d0ad6d20c74d89bf5b6a33cTest
https://doi.org/10.1007/s10545-005-4416-9Test

المؤلفون: Rolf G. Boot, Nick Dekker, Mina Mirzaian, Patrick Wisse, Johannes M. F. G. Aerts, Wilma E. Donker-Koopman, Maria J. Ferraz, Gert Jan Kramer, Marri Verhoek, Herman S. Overkleeft, Henrik Gold

المصدر: Blood cells, moleculesdiseases. 54(4)

مصطلحات موضوعية: medicine.medical_specialty, Spectrometry, Mass, Electrospray Ionization, Urinary system, Urine, Tandem Mass Spectrometry, Internal medicine, medicine, Humans, Enzyme Replacement Therapy, Molecular Biology, Observer Variation, Carbon Isotopes, Gaucher Disease, Isotope, Chemistry, CCL18, Psychosine, Reproducibility of Results, Cell Biology, Hematology, Enzyme replacement therapy, Reference Standards, medicine.disease, Fabry disease, Mass spectrometric, Endocrinology, Hexosaminidases, Biochemistry, Case-Control Studies, Chemokines, CC, Molecular Medicine, Glucosylceramidase, Glucocerebrosidase, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c952d734d80bebac424e7ca098c7ef8Test
https://pubmed.ncbi.nlm.nih.gov/25842368Test

المؤلفون: E. Dimitriou, Johannes M. F. G. Aerts, Rolf G. Boot, Marri Verhoek, Helen Michelakakis, S. van Weely, Irene Mavridou

المساهمون: Other departments

المصدر: ResearcherID
Journal of inherited metabolic disease, 18(5), 609-615. Springer Netherlands

مصطلحات موضوعية: medicine.medical_specialty, Genotype, DNA Mutational Analysis, Disease, Biology, medicine.disease_cause, Internal medicine, Genetics, medicine, Lysosomal storage disease, Humans, Allele, Genetics (clinical), Cells, Cultured, Mutation, Gaucher Disease, Greece, DNA, Fibroblasts, medicine.disease, Phenotype, Glucosylceramidase, Endocrinology, Glucocerebrosidase

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab8660f3e53162ccc0bb3a6efeb1e777Test
https://doi.org/10.1007/bf02436006Test

المؤلفون: Johannes M. F. G. Aerts, Nick Dekker, Dave Speijer, Tom Wennekes, Rolf G. Boot, Carla E. M. Hollak, Hermen S. Overkleeft, Marri Verhoek, Tineke Voorn-Brouwer, Ravi S. Narayan

المساهمون: Medical Biochemistry, Other departments, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam institute for Infection and Immunity, Endocrinology, Amsterdam Cardiovascular Sciences

المصدر: Blood Cells Molecules and Diseases, 46(1), 19-26
Blood cells, molecules & diseases, 46(1), 19-26. Academic Press Inc.
Blood Cells Molecules and Diseases 46 (2011) 1

مصطلحات موضوعية: Models, Molecular, marked elevation, human-liver, phenotype, specificity, Spleen, deglycosylation, beta-glucosidase-2, Biology, medicine.disease_cause, Cell Line, Substrate Specificity, law.invention, GBA3, law, Chlorocebus aethiops, medicine, Animals, Humans, klotho-related protein, Molecular Biology, Gene, VLAG, chemistry.chemical_classification, Mutation, Gaucher Disease, glucocerebrosidase, beta-Glucosidase, Organic Chemistry, Cell Biology, Hematology, Molecular biology, Organische Chemie, Open reading frame, HEK293 Cells, medicine.anatomical_structure, Enzyme, chemistry, Biochemistry, COS Cells, nonlysosomal glucosylceramidase, Recombinant DNA, Molecular Medicine, identification, Glucocerebrosidase

وصف الملف: application/octet-stream; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84ae1582b3ade53f1f60251faa5c2a76Test
https://research.wur.nl/en/publications/the-cytosolic-b-glucosidase-gba3-does-not-influence-type-1-gaucheTest