Ontology highlight
ABSTRACT:
SUBMITTER: Shin SH
PROVIDER: S-EPMC2729584 | biostudies-literature | 2007 Jul
REPOSITORIES: biostudies-literature
Shin Sang-Hoon SH Murray Gary J GJ Kluepfel-Stahl Stefanie S Cooney Adele M AM Quirk Jane M JM Schiffmann Raphael R Brady Roscoe O RO Kaneski Christine R CR
Biochemical and biophysical research communications 20070522 1
As a prerequisite for clinical trials of pharmacological chaperone therapy (PCT) for Fabry disease, we developed a rapid screening assay for enhancement of endogenous alpha-galactosidase A (alpha-Gal A) in patient-derived cells. We used a T-cell based system to screen 11 mutations causing Fabry disease for enhanceability using 1-deoxygalactonojirimycin (DGJ). When patient-derived T-cells were grown in the presence of DGJ, alpha-Gal A activity increased to more than 50% of normal in several mutat ...[more]