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
✍ Scribed by Simona Viglio; Elaine Marchi; Krystyna Wisniewski; Begõna Casado; Giuseppe Cetta; Paolo Iadarola
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 114 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0173-0835
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✦ Synopsis
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
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.