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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2013

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.
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Literature
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Metadata
Title
Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones
Authors
Marco Cammisa
Antonella Correra
Giuseppina Andreotti
Maria Vittoria Cubellis
Publication date
01-12-2013
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2013
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/1750-1172-8-111

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