title: Diagnosis of late-infantile neuronal ceroid lipofuscinosis: a new sensitive method to assay lysosomal pepstatin-insensitive proteinase activity in human and animal specimens by capillary electrophoresis.
abstract: Batten disease, or human late-infantile neuronal ceroid lipofuscinosis (LINCL) is a familiar progressive degenerative disease affecting children, caused by a deficiency of a lysosomal proteinase (tripeptidyl peptidase I, TPP-I) and characterized by the accumulation of autofluorescent storage bodies in the brain and other tissues of the body. Current methodology used to diagnose this disease needs to be improved in order to have less invasive techniques with higher resolution and shorter assay time. In this report, we discuss the potential merits of micellar electrokinetic chromatography as an excellent tool that requires minute samples but offers high resolution and a short running time for monitoring TPP-I activity in human and animal specimens.
authors.affiliation: Dipartimento di Biochimica A. Castellani, Università di Pavia, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Viglio
authors.forename: E
authors.initials: E
authors.lastname: Marchi
authors.forename: K
authors.initials: K
authors.lastname: Wisniewski
authors.forename: B
authors.initials: B
authors.lastname: Casado
authors.forename: G
authors.initials: G
authors.lastname: Cetta
authors.forename: P
authors.initials: P
authors.lastname: Iadarola
mesh_terms: D000626:Aminopeptidases; D000818:Animals; D001792:Blood Platelets / Q000201:enzymology; D002417:Cattle; D002845:Chromatography / Q000379:methods; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; D019075:Electrophoresis, Capillary / Q000379:methods*; D010450:Endopeptidases / Q000032:analysis* / Q000097:blood / Q000172:deficiency; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology; D051379:Mice; D008823:Micelles; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000201:enzymology*; D051381:Rats; D057057:Serine Proteases; D000091346:Tripeptidyl-Peptidase 1
chemical_list: D008823:Micelles; C000717268:Tpp1 protein, mouse; C000717269:Tpp1 protein, rat; D000091346:Tripeptidyl-Peptidase 1; D010450:Endopeptidases; D057057:Serine Proteases; D000626:Aminopeptidases; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; C000717267:TPP1 protein, human