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Fabry-CEP is a user-friendly web-application designed to help clinicians Choose Eligible Patients for the therapy with pharmacological chaperones. It provides a database and a predictive tool to evaluate the responsiveness of lysosomal alpha-galactosidase mutants to a small molecule drug, namely 1-Deoxy-galactonojirimycin. The user can introduce any missense/nonsense mutation in the coding sequence, learn whether it is has been tested and gain access to appropriate reference literature. In the absence of experimental data structural, functional and evolutionary analysis provides a prediction and the probability that a given mutation is responsive to the drug. © 2013 Cammisa et al.; licensee BioMed Central Ltd.
Cammisa, M., Correra, A., Andreotti, G., & Cubellis, M. V. (2013). Fabry-CEP: A tool to identify Fabry mutations responsive to pharmacological chaperones. Orphanet Journal of Rare Diseases, 8(1). https://doi.org/10.1186/1750-1172-8-111