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新兴技术在脯氨肽酶缺乏症研究中的作用:从诊断到可能的治疗方法的开发。

The role of emerging techniques in the investigation of prolidase deficiency: from diagnosis to the development of a possible therapeutical approach.

作者信息

Viglio Simona, Annovazzi Laura, Conti Bice, Genta Ida, Perugini Paola, Zanone Chiara, Casado Begoña, Cetta Giuseppe, Iadarola Paolo

机构信息

Department of Biochemistry A. Castellani, University of Pavia, Via Taramelli 3/B I-27100 Pavia, Italy.

出版信息

J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Feb 17;832(1):1-8. doi: 10.1016/j.jchromb.2005.12.049. Epub 2006 Jan 24.

Abstract

The aim of the present article is to review the efforts performed in the past two decades by numerous research groups for the development of methods that allow a correct diagnosis of prolidase deficiency (PD), a rare autosomal recessive disorder and for the rationalization of a possible therapeutic intervention on these patients. In particular, the interest of the reader is focused on the application of capillary electrophoresis (i) for the detection of biological markers that reflect the pathological feature of the disease and (ii) for the determination of the efficiency of a carrier system in delivering prolidase inside cells in a possible therapy based on enzyme replacement.

摘要

本文的目的是回顾众多研究小组在过去二十年中为开发能够正确诊断脯氨酰寡肽酶缺乏症(PD,一种罕见的常染色体隐性疾病)的方法以及使对这些患者的可能治疗干预合理化所做的努力。特别地,读者的关注点集中在毛细管电泳的应用上:(i)用于检测反映疾病病理特征的生物标志物;(ii)在基于酶替代的可能治疗中,用于确定载体系统将脯氨酰寡肽酶递送至细胞内的效率。

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