title: Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies.
abstract: 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.
authors: Sphinx-Amsterdam Lysosome Center, Departments of Medical Biochemistry and Internal Medicine, Academic Medical Centre, University of Amsterdam, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands. j.m.aerts@amc.uva.nl
authors: Johannes M F G
authors: JM
authors: Aerts
authors: Wouter W
authors: WW
authors: Kallemeijn
authors: Wouter
authors: W
authors: Wegdam
authors: Maria
authors: M
authors: Joao Ferraz
authors: Marielle J
authors: MJ
authors: van Breemen
authors: Nick
authors: N
authors: Dekker
authors: Gertjan
authors: G
authors: Kramer
authors: Ben J
authors: BJ
authors: Poorthuis
authors: Johanna E M
authors: JE
authors: Groener
authors: Josanne
authors: J
authors: Cox-Brinkman
authors: Saskia M
authors: SM
authors: Rombach
authors: Carla E M
authors: CE
authors: Hollak
authors: Gabor E
authors: GE
authors: Linthorst
authors: Martin D
authors: MD
authors: Witte
authors: Henrik
authors: H
authors: Gold
authors: Gijs A
authors: GA
authors: van der Marel
authors: Herman S
authors: HS
authors: Overkleeft
authors: Rolf G
authors: RG
authors: Boot
mesh_terms: D000818:Animals; D000906:Antibodies; D015415:Biomarkers / Q000032:analysis* / Q000378:metabolism; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000175:diagnosis / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D005776:Gaucher Disease / Q000175:diagnosis / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D006801:Humans; D008055:Lipids / Q000032:analysis*; D016464:Lysosomal Storage Diseases / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D008958:Models, Molecular; D011506:Proteins / Q000032:analysis* / Q000378:metabolism
chemical_list: D000906:Antibodies; D015415:Biomarkers; D008055:Lipids; D011506:Proteins