http://www.cnr.it/ontology/cnr/individuo/prodotto/ID269844
Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones (Articolo in rivista)
- Type
- Label
- Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones (Articolo in rivista) (literal)
- Anno
- 2013-01-01T00:00:00+01:00 (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
- 10.1186/1750-1172-8-111 (literal)
- Alternative label
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
- M. Cammisa, A. Correra, G. Andreotti# and M.V. Cubellis (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
- Rivista
- Note
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
- 1 Dipartimento di Biologia, Università Federico II, Napoli, Italy
2 Istituto di Chimica Biomolecolare -CNR, Pozzuoli, Italy
3 Istituto di Biostrutture e Bioimmagini-CNR, Napoli, Italy (literal)
- Titolo
- Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones (literal)
- 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. (literal)
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- Autore CNR
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