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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Gaucher disease: a model disorder for biomarker discovery.

Gaucher disease is an inherited lysosomal storage disorder, characterized by massive accumulation of glucosylceramide-laden macrophages in the spleen, liver and bone marrow as a consequence of deficient activity of glucocerebrosidase. Gaucher disease has been the playground to develop new therapeutic interventions such as enzyme-replacement therapy and substrate-reduction therapy. The availability of these costly therapies has stimulated research regarding suitable biomarkers to monitor onset and progression of disease, as well as the efficacy of therapeutic intervention. Given the important role of storage cells in the pathology, various attempts have been made to identify proteins in plasma or serum reflecting the body burden of these pathological cells. In this review, the existing data regarding biomarkers for Gaucher disease, as well as the current application of biomarkers in clinical management of Gaucher patients are discussed. Moreover, the use of several modern proteomic technologies for the identification of Gaucher biomarkers is reviewed.[1]


  1. Gaucher disease: a model disorder for biomarker discovery. Boot, R.G., van Breemen, M.J., Wegdam, W., Sprenger, R.R., de Jong, S., Speijer, D., Hollak, C.E., van Dussen, L., Hoefsloot, H.C., Smilde, A.K., de Koster, C.G., Vissers, J.P., Aerts, J.M. Expert. Rev. Proteomics (2009) [Pubmed]
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