Nephropathy represents a major complication of Fabry Disease and its accurate characterization is of paramount importance in predicting the disease progression and assessing the therapeutic responses. The diagnostic process still relies on performing renal biopsy, nevertheless many efforts have been made to discover early reliable biomarkers allowing us to avoid invasive procedures. In this field, proteomics offers a sensitive and fast method leading to an accurate detection of specific pathological proteins and the discovery of diagnostic and prognostic biomarkers that reflect disease progression and facilitate the evaluation of therapeutic responses. Here, we report a review of selected literature focusing on the investigation of several proteomic techniques highlighting their advantages, limitations and future perspectives in their application in the routine study of Fabry Nephropathy.

Rossi, F., L'Imperio, V., Marti, H., Svarstad, E., Smith, A., Bolognesi, M., et al. (2021). Proteomics for the study of new biomarkers in Fabry disease: State of the art. MOLECULAR GENETICS AND METABOLISM, 132(2), 86-93 [10.1016/j.ymgme.2020.10.006].

Proteomics for the study of new biomarkers in Fabry disease: State of the art

Rossi F.
;
L'Imperio V.
;
Smith A.;Bolognesi M. M.;Magni F.;Pagni F.;Pieruzzi F.
2021

Abstract

Nephropathy represents a major complication of Fabry Disease and its accurate characterization is of paramount importance in predicting the disease progression and assessing the therapeutic responses. The diagnostic process still relies on performing renal biopsy, nevertheless many efforts have been made to discover early reliable biomarkers allowing us to avoid invasive procedures. In this field, proteomics offers a sensitive and fast method leading to an accurate detection of specific pathological proteins and the discovery of diagnostic and prognostic biomarkers that reflect disease progression and facilitate the evaluation of therapeutic responses. Here, we report a review of selected literature focusing on the investigation of several proteomic techniques highlighting their advantages, limitations and future perspectives in their application in the routine study of Fabry Nephropathy.
Articolo in rivista - Review Essay
Anderson-Fabry disease; Biomarkers; Clinical proteomics; Fabry nephropathy; Mass spectrometry; Matrix-assisted laser desorption/ionization;
English
14-ott-2020
2021
132
2
86
93
none
Rossi, F., L'Imperio, V., Marti, H., Svarstad, E., Smith, A., Bolognesi, M., et al. (2021). Proteomics for the study of new biomarkers in Fabry disease: State of the art. MOLECULAR GENETICS AND METABOLISM, 132(2), 86-93 [10.1016/j.ymgme.2020.10.006].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/289677
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