TY - JOUR
T1 - Biomarkers in the diagnosis of lysosomal storage disorders
T2 - proteins, lipids, and inhibodies
AU - Aerts, Johannes M.F.G.
AU - Kallemeijn, Wouter W.
AU - Wegdam, Wouter
AU - Ferraz, Maria Joao
AU - Breemen, Marielle J. van
AU - Dekker, Nick
AU - Kramer, Gertjan
AU - Poorthuis, Ben J.
AU - Groener, Johanna E.M.
AU - Cox-Brinkman, Josanne
AU - Rombach, Saskia M.
AU - Hollak, Carla E.M.
AU - Linthorst, Gabor E.
AU - Witte, Martin D.
AU - Gold, Henrik
AU - Marel, Gijs A. van der
AU - Overkleeft, Herman S.
AU - Boot, Rolf G.
N1 - Relation: http://www.rug.nl/research/stratingh/
date_submitted:2013
Rights: University of Groningen, Stratingh Institute for Chemistry
PY - 2011/6
Y1 - 2011/6
N2 - 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.
AB - 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.
U2 - 10.1007/s10545-011-9308-6
DO - 10.1007/s10545-011-9308-6
M3 - Article
VL - 34
SP - 605
EP - 619
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
SN - 0141-8955
IS - 3
ER -