Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies
| Autor: | Herman S. Overkleeft, Johannes M. F. G. Aerts, Josanne Cox-Brinkman, Martin D. Witte, Carla E. M. Hollak, Johanna E. M. Groener, Gabor E. Linthorst, Ben J. H. M. Poorthuis, Wouter Wegdam, Rolf G. Boot, Mariëlle J. van Breemen, Nick Dekker, Henrik Gold, Gijs A. van der Marel, Gert Jan Kramer, Wouter W. Kallemeijn, Maria J. Ferraz, Saskia M. Rombach |
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| Přispěvatelé: | Stratingh Institute of Chemistry, ACS - Amsterdam Cardiovascular Sciences, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, AII - Amsterdam institute for Infection and Immunity, ANS - Amsterdam Neuroscience, CCA -Cancer Center Amsterdam, Graduate School, Obstetrics and Gynaecology, Endocrinology, Other departments, Faculteit der Geneeskunde |
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Models
Molecular Analyte Disease Biology Bioinformatics Antibodies Genetics medicine Lysosomal storage disease Animals Humans Enzyme Replacement Therapy Genetics(clinical) Biomarker discovery Genetics (clinical) Gaucher Disease Proteins Enzyme replacement therapy medicine.disease Lipids Fabry disease Human genetics SSIEM Symposium 2010 Lysosomal Storage Diseases Biochemistry Fabry Disease Biomarker (medicine) Biomarkers |
| Zdroj: | Journal of Inherited Metabolic Disease, 34(3), 605-619. SPRINGER Journal of inherited metabolic disease, 34(3), 605-619. Springer Netherlands Journal of Inherited Metabolic Disease |
| ISSN: | 1573-2665 0141-8955 |
| DOI: | 10.1007/s10545-011-9308-6 |
| Popis: | A biomarker is an analyte indicating the presence of a biological process linked to the clinical manifestations and outcome of a particular disease. In the case of lysosomal storage disorders (LSDs), primary and secondary accumulating metabolites or proteins specifically secreted by storage cells are good candidates for biomarkers. Clinical applications of biomarkers are found in improved diagnosis, monitoring disease progression, and assessing therapeutic correction. These are illustrated by reviewing the discovery and use of biomarkers for Gaucher disease and Fabry disease. In addition, recently developed chemical tools allowing specific visualization of enzymatically active lysosomal glucocerebrosidase are described. Such probes, coined inhibodies, offer entirely new possibilities for more sophisticated molecular diagnosis, enzyme replacement therapy monitoring, and fundamental research. |
| Databáze: | OpenAIRE |
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