Published in:
Open Access
01-12-2013 | Letter to the Editor
Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones
Authors:
Marco Cammisa, Antonella Correra, Giuseppina Andreotti, Maria Vittoria Cubellis
Published in:
Orphanet Journal of Rare Diseases
|
Issue 1/2013
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Abstract
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.