*** IBB - CNR *** Dipartimento di Biologia, Universita Federico II, Napoli, Italy. Istituto di Chimica Biomolecolare -CNR, Pozzuoli, Italy Istituto di Biostrutture e Bioimmagini-CNR, Napoli, Italy
Riferimenti:
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
Giugliani, R., Waldek, S., Germain, D.P., Nicholls, K., Bichet, D.G., Simosky, J.K., Bragat, A.C., Boudes, P.F., A phase 2 study of migalastat hydrochloride in females with fabry disease: Selection of population, safety and pharmacodynamic effects (2013) Mol Genet Metab, 109 (1), pp. 86-92. , 10.1016/j.ymgme.2013.01.009 23474038
Ishii, S., Pharmacological chaperone therapy for fabry disease (2012) Proceedings of the Japan Academy, 88 (1), pp. 18-30. , 10.2183/pjab.88.18
Cammisa, M., Correra, A., Andreotti, G., Cubellis, M.V., Identification and analysis of conserved pockets on protein surfaces (2013) BMC Bioinforma, 14 (SUPPL. 7)
Siekierska, A., De Baets, G., Reumers, J., Gallardo, R., Rudyak, S., Broersen, K., Couceiro, J., Rousseau, F., Alpha-galactosidase aggregation is a determinant of pharmacological chaperone efficacy on fabry disease mutants (2012) J Biol Chem, 287 (34), pp. 28386-28397. , 10.1074/jbc.M112.351056 22773828
Fernandez-Escamilla, A.-M., Rousseau, F., Schymkowitz, J., Serrano, L., Prediction of sequence-dependent and mutational effects on the aggregation of peptides and proteins (2004) Nature Biotechnology, 22 (10), pp. 1302-1306. , DOI 10.1038/nbt1012
Andreotti, G., Guarracino, M.R., Cammisa, M., Correra Cubellis, M.V., Prediction of the responsiveness to pharmacological chaperones: Lysosomal human alpha-galactosidase, a case of study (2010) Orphanet J Rare Dis, 5, p. 36. , 10.1186/1750-1172-5-36 21138548
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 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.
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(308 visite) Rivista Di Neuroradiologia (ISSN: 1120-9976), 2004; 17(6): 807-812. Impact Factor:0.023 DettagliEsporta in BibTeXEsporta in EndNote
178 Records (170 escludendo Abstract e Conferenze). Impact factor totale: 595.287 (568.481 escludendo Abstract e Conferenze). Impact factor a 5 anni totale: 667.777 (634.228 escludendo Abstract e Conferenze).
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