Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones
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-D...
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| Format: | Online |
| Language: | English |
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BioMed Central
2013
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3729670/ |
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pubmed-3729670 |
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pubmed-37296702013-08-01 Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones Cammisa, Marco Correra, Antonella Andreotti, Giuseppina Cubellis, Maria Vittoria Letter to the Editor 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. BioMed Central 2013-07-24 /pmc/articles/PMC3729670/ /pubmed/23883437 http://dx.doi.org/10.1186/1750-1172-8-111 Text en Copyright © 2013 Cammisa et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| repository_type |
Open Access Journal |
| institution_category |
Foreign Institution |
| institution |
US National Center for Biotechnology Information |
| building |
NCBI PubMed |
| collection |
Online Access |
| language |
English |
| format |
Online |
| author |
Cammisa, Marco Correra, Antonella Andreotti, Giuseppina Cubellis, Maria Vittoria |
| spellingShingle |
Cammisa, Marco Correra, Antonella Andreotti, Giuseppina Cubellis, Maria Vittoria Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones |
| author_facet |
Cammisa, Marco Correra, Antonella Andreotti, Giuseppina Cubellis, Maria Vittoria |
| author_sort |
Cammisa, Marco |
| title |
Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones |
| title_short |
Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones |
| title_full |
Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones |
| title_fullStr |
Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones |
| title_full_unstemmed |
Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones |
| title_sort |
fabry_cep: a tool to identify fabry mutations responsive to pharmacological chaperones |
| description |
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. |
| publisher |
BioMed Central |
| publishDate |
2013 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3729670/ |
| _version_ |
1611999598315831296 |