Dipartimento di Biologia, Universita Federico II, Napoli, Italy.
Istituto di Chimica Biomolecolare -CNR, Pozzuoli, Italy
Istituto di Biostrutture e Bioimmagini-CNR, Napoli, Italy
References: http://www.hgmd.cf.ac.uk/ac/index.php, HGMDGermain, D.P., Giugliani, R., Hughes, D.A., Mehta, A., Nicholls, K., Barisoni, L., Jennette, C.J., Sitaraman, S., Safety and pharmacodynamic effects of a pharmacological chaperone on alpha-galactosidase a activity and globotriaosylceramide clearance in fabry disease: Report from two phase 2 clinical studies (2012) Orphanet J Rare Dis, 7, p. 91. , 10.1186/1750-1172-7-91 2317661
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http: //www. hgmd. cf. ac. uk/ac/index. php, HGMDGermain, D. P., Giugliani, R., Hughes, D. A., Mehta, A., Nicholls, K., Barisoni, L., Jennette, C. J., Sitaraman, S., Safety and pharmacodynamic effects of a pharmacological chaperone on alpha-galactosidase a activity and globotriaosylceramide clearance in fabry disease: Report from two phase 2 clinical studies (2012) Orphanet J Rare Dis, 7, p. 91. , 10. 1186/1750-1172-7-91 2317661
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-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.
Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones
Hesse B, Tagil K, Cuocolo A, Anagnostopoulos C, Bardies M, Bax J, Bengel F, Busemann Sokole E, Davies G, Dondi M, Edenbrandt L, Franken P, Kjaer A, Knuuti J, Lassmann M, Ljungberg M, Marcassa C, Marie PY, Mckiddie F, O'connor M, Prvuolovich E, Underwood R * 3. 0 T perfusion MR imaging(726 views) Rivista Di Neuroradiologia (ISSN: 1120-9976), 2004; 17(6): 807-812. Impact Factor:0.023 ViewExport to BibTeXExport to EndNote