title: The role of emerging techniques in the investigation of prolidase deficiency: from diagnosis to the development of a possible therapeutical approach.
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.
authors.affiliation: Department of Biochemistry A. Castellani, University of Pavia, Via Taramelli 3/B I-27100 Pavia, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Viglio
authors.forename: Laura
authors.initials: L
authors.lastname: Annovazzi
authors.forename: Bice
authors.initials: B
authors.lastname: Conti
authors.forename: Ida
authors.initials: I
authors.lastname: Genta
authors.forename: Paola
authors.initials: P
authors.lastname: Perugini
authors.forename: Chiara
authors.initials: C
authors.lastname: Zanone
authors.forename: Begoña
authors.initials: B
authors.lastname: Casado
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Cetta
authors.forename: Paolo
authors.initials: P
authors.lastname: Iadarola
mesh_terms: D004150:Dipeptidases / Q000172:deficiency*; D019075:Electrophoresis, Capillary; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006801:Humans; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
chemical_list: D004150:Dipeptidases; C022449:proline dipeptidase