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

Orphanet Journal of Rare Diseases

Maria Vittoria Cubellis¹  Giuseppina Andreotti²  Antonella Correra³  Marco Cammisa³ 

[1] Istituto di Biostrutture e Bioimmagini-CNR, Napoli, Italy;Istituto di Chimica Biomolecolare –CNR, Pozzuoli, Italy;Dipartimento di Biologia, Università Federico II, Napoli, Italy

关键词: Therapy;    Web-application;    Pharmacological chaperone;    Fabry disease;   

Others  :  863640
DOI  :  10.1186/1750-1172-8-111

 received in 2013-03-23, accepted in 2013-06-20,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 Cammisa et al.; licensee BioMed Central Ltd.

【 图 表 】

【 参考文献 】

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