Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies

J.M.F.G. Aerts; W.W. Kallemeijn; W. Wegdam; M. Joao Ferraz; M.J. van Breemen; N. Dekker; G. Kramer; B.J. Poorthuis; J.E.M. Groener; J. Cox-Brinkman; S.M. Rombach; C.E.M. Hollak; G.E. Linthorst; M.D. Witte; H. Gold; G.A. van der Marel; H.S. Overkleeft; R.G. Boot

doi:https://doi.org/10.1007/s10545-011-9308-6

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies

J.M.F.G. Aerts, W.W. Kallemeijn, W. Wegdam, M. Joao Ferraz, M.J. van Breemen, N. Dekker, G. Kramer, B.J. Poorthuis, J.E.M. Groener, J. Cox-Brinkman, S.M. Rombach, C.E.M. Hollak, G.E. Linthorst, M.D. Witte, H. Gold, G.A. van der Marel, H.S. Overkleeft, R.G. Boot

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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

Original language	English
Pages (from-to)	605-619
Journal	Journal of Inherited Metabolic Disease
Volume	34
Issue number	3
DOIs	https://doi.org/10.1007/s10545-011-9308-6
Publication status	Published - 2011

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Cite this

Aerts, J. M. F. G., Kallemeijn, W. W., Wegdam, W., Joao Ferraz, M., van Breemen, M. J., Dekker, N., Kramer, G., Poorthuis, B. J., Groener, J. E. M., Cox-Brinkman, J., Rombach, S. M., Hollak, C. E. M., Linthorst, G. E., Witte, M. D., Gold, H., van der Marel, G. A., Overkleeft, H. S., & Boot, R. G. (2011). Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies. Journal of Inherited Metabolic Disease, 34(3), 605-619. https://doi.org/10.1007/s10545-011-9308-6

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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",

author = "J.M.F.G. Aerts and W.W. Kallemeijn and W. Wegdam and {Joao Ferraz}, M. and {van Breemen}, M.J. and N. Dekker and G. Kramer and B.J. Poorthuis and J.E.M. Groener and J. Cox-Brinkman and S.M. Rombach and C.E.M. Hollak and G.E. Linthorst and M.D. Witte and H. Gold and {van der Marel}, G.A. and H.S. Overkleeft and R.G. Boot",

year = "2011",

doi = "https://doi.org/10.1007/s10545-011-9308-6",

language = "English",

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Aerts, JMFG, Kallemeijn, WW, Wegdam, W, Joao Ferraz, M, van Breemen, MJ, Dekker, N, Kramer, G, Poorthuis, BJ, Groener, JEM, Cox-Brinkman, J, Rombach, SM, Hollak, CEM , Linthorst, GE, Witte, MD, Gold, H, van der Marel, GA, Overkleeft, HS & Boot, RG 2011, 'Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies', Journal of Inherited Metabolic Disease, vol. 34, no. 3, pp. 605-619. https://doi.org/10.1007/s10545-011-9308-6

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T1 - Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies

AU - Aerts, J.M.F.G.

AU - Kallemeijn, W.W.

AU - Wegdam, W.

AU - Joao Ferraz, M.

AU - van Breemen, M.J.

AU - Dekker, N.

AU - Kramer, G.

AU - Poorthuis, B.J.

AU - Groener, J.E.M.

AU - Cox-Brinkman, J.

AU - Rombach, S.M.

AU - Hollak, C.E.M.

AU - Linthorst, G.E.

AU - Witte, M.D.

AU - Gold, H.

AU - van der Marel, G.A.

AU - Overkleeft, H.S.

AU - Boot, R.G.

PY - 2011

Y1 - 2011

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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

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DO - https://doi.org/10.1007/s10545-011-9308-6

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