In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe DiseaseJan Lukas 1, Anne-Marie Knospe 1, Susanne Seemann 1, Valentina Citro 2, Maria V. Cubellis 2, Arndt Rolfs 1,3
1Albrecht-Kossel-Institute, University Rostock Medical Center, 2Department of Biology, University Federico II, 3Centogene AG
There is a demand to make pre-clinical testing for a novel class of "orphan" drugs called pharmacological chaperones reproducible, fast, and efficient. We developed a simple, highly standardized, and versatile cell culture-based assay to screen for eligible patients as well as novel pharmacological chaperone drugs.
