1. The role of emerging techniques in the investigation of prolidase deficiency: From diagnosis to the development of a possible therapeutical approach
- Author
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Giuseppe Cetta, Bice Conti, Simona Viglio, Ida Genta, Begona Casado, Laura Annovazzi, Paola Perugini, Chiara Zanone, and Paolo Iadarola
- Subjects
Dipeptidases ,Research groups ,Prolidase deficiency ,Chromatography ,Chemistry ,Clinical Biochemistry ,Rationalization (psychology) ,Genetic Diseases, Inborn ,Electrophoresis, Capillary ,Genes, Recessive ,Cell Biology ,General Medicine ,Disease ,Bioinformatics ,medicine.disease ,Biochemistry ,Analytical Chemistry ,Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization ,medicine ,Humans ,X-Pro dipeptidase - 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.
- Published
- 2006
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