Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models
| العنوان: | Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models |
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| المؤلفون: | Johannes M. F. G. Aerts, Marri Verhoek, Timothy M. Cox, Elena Pavlova, Wilma E. Donker-Koopman, Rolf G. Boot, Jessica K. Nelson, Gert Jan Kramer, Wouter W. Kallemeijn, Mary Teresa Moran, Wouter Wegdam, Roelof Ottenhoff, Jon D. Laman, Marco van Eijk, Paulo Gaspar, Tanit L. Gabriel, Johannes P. C. Vissers |
| المساهمون: | Cox, Timothy [0000-0002-4951-9941], Pavlova, Elena [0000-0003-0187-5098], Apollo - University of Cambridge Repository, Molecular Neuroscience and Ageing Research (MOLAR), Translational Immunology Groningen (TRIGR), Other departments, Graduate School, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, ACS - Amsterdam Cardiovascular Sciences, AII - Amsterdam institute for Infection and Immunity |
| المصدر: | FEBS Open Bio FEBS Open Bio, 6(9), 902-913. Wiley-Blackwell FEBS Open Bio, 6(9), 902-913. Wiley Open Access FEBS open bio, 6(9), 902-913. Wiley-Blackwell |
| بيانات النشر: | Wiley, 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | 0301 basic medicine, DC-HIL, EXPRESSION, GLUCOCEREBROSIDASE, Pathology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Genetic enhancement, Cell, DC‐HIL, Biology, storage disease, PHENOTYPE, osteoactivin, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, chitotriosidase, Lysosome, glucosylceramide, medicine, CELL, Research Articles, GPNMB, PLASMA, CCL18, GENE-THERAPY, nutritional and metabolic diseases, FORMATION IN-VIVO, Phenotype, 3. Good health, MARKED ELEVATION, nervous system diseases, 030104 developmental biology, medicine.anatomical_structure, DIFFERENTIATION, lysosome, Biomarker (medicine), Glucocerebrosidase, Research Article |
| الوصف: | Gaucher disease is caused by inherited deficiency of lysosomal glucocerebrosidase. Proteome analysis of laser-dissected splenic Gaucher cells revealed increased amounts of glycoprotein nonmetastatic melanoma protein B (gpNMB). Plasma gpNMB was also elevated, correlating with chitotriosidase and CCL18, which are established markers for human Gaucher cells. In Gaucher mice, gpNMB is also produced by Gaucher cells. Correction of glucocerebrosidase deficiency in mice by gene transfer or pharmacological substrate reduction reverses gpNMB abnormalities. In conclusion, gpNMB acts as a marker for glucosylceramide-laden macrophages in man and mouse and gpNMB should be considered as candidate biomarker for Gaucher disease in treatment monitoring. |
| وصف الملف: | application/pdf |
| تدمد: | 2211-5463 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9904b801f366cbc06c3d1033778f123cTest https://www.repository.cam.ac.uk/handle/1810/289591Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....9904b801f366cbc06c3d1033778f123c |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 22115463 |
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