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. 2013 Jul 24:8:111.
doi: 10.1186/1750-1172-8-111.

Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones

Marco Cammisa  1 , Antonella Correra, Giuseppina Andreotti, Maria Vittoria Cubellis
Affiliations

Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones

Marco Cammisa et al. Orphanet J Rare Dis. .

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.

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Figures

Figure 1
Figure 1
Correlation of responsiveness to pharmacological chaperones with scores assigned with a Position Specific Substitution Matrix (PSSM).
Figure 2
Figure 2
Performance of Fabry_CEP illustrated by receiver operating characteristic (ROC) curve.
Figure 3
Figure 3
Fabry_CEP interface.
See this image and copyright information in PMC

References

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