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Proteomics for the study of new biomarkers in Fabry disease: State of the art
Molecular Genetics and Metabolism ( IF 3.8 ) Pub Date : 2020-10-14 , DOI: 10.1016/j.ymgme.2020.10.006
Federica Rossi 1 , Vincenzo L'Imperio 2 , Hans-Peter Marti 3 , Einar Svarstad 4 , Andrew Smith 5 , Maddalena Maria Bolognesi 2 , Fulvio Magni 5 , Fabio Pagni 2 , Federico Pieruzzi 1
Affiliation  

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.



中文翻译:

用于研究法布里病新生物标志物的蛋白质组学:最新技术

肾病是法布里病的主要并发症,其准确表征对于预测疾病进展和评估治疗反应至关重要。诊断过程仍然依赖于进行肾活检,但已经做出了许多努力来发现早期可靠的生物标志物,使我们能够避免侵入性手术。

在该领域,蛋白质组学提供了一种灵敏、快速的方法,可以准确检测特定的病理蛋白质,并发现反映疾病进展并促进治疗反应评估的诊断和预后生物标志物。

在这里,我们报告了对选定文献的回顾,重点是对几种蛋白质组学技术的研究,突出了它们在法布里肾病常规研究中的应用的优势、局限性和未来前景。

更新日期:2020-10-15
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