Author(s): Rolfs, Prof. Arndt, MD, Meyer, Wolfgang, MD, Giese, Anne Katrin, MD, Lukas, Jan, PhD, Mascher, Prof. Hermann, Grittner, Ulrike, PhD, Saviouk, Viatcheslav, Kolodny, Edwin, MD, Wree, Prof. Andreas, MD, Markoff, Arseni, PhD, Lackner, Prof. Karl J., MD
This work aims to draw the attention to milder forms of Fabry disease which might at first appear unrelated to this clinically heterogenous disease. Read more!
In order to predict the metabolic consequence of a given mutation, we combined in vitro enzyme activity with in vivo biomarker data. Furthermore, we used the pharmacological chaperone (PC) 1-deoxygalactonojirimycin (DGJ) as a tool to analyse the influence of individual mutations on subcellular organelle-trafficking and stability. We analysed a significant number of mutations and correlated the obtained properties to the clinical manifestation related to the mutation in order to improve our knowledge of the identity of functional relevant amino acids.
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