TY - STD TI - HGMD: [http://www.hgmd.cf.ac.uk/ac/index.php] UR - http://www.hgmd.cf.ac.uk/ac/index.php ID - ref1 ER - TY - JOUR AU - Germain, D. P. AU - Giugliani, R. AU - Hughes, D. A. AU - Mehta, A. AU - Nicholls, K. AU - Barisoni, L. AU - Jennette, C. J. AU - Bragat, A. AU - Castelli, J. AU - Sitaraman, S. AU - Cammisa, M. AU - Cammisa, M. AU - Cammisa, M. AU - Cubellis, M. V. PY - 2012 DA - 2012// TI - 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 JO - Orphanet J Rare Dis VL - 7 UR - https://doi.org/10.1186/1750-1172-7-91 DO - 10.1186/1750-1172-7-91 ID - Germain2012 ER - TY - JOUR AU - Giugliani, R. AU - Waldek, S. AU - Germain, D. P. AU - Nicholls, K. AU - Bichet, D. G. AU - Simosky, J. K. AU - Bragat, A. C. AU - Castelli, J. P. AU - Benjamin, E. R. AU - Boudes, P. F. PY - 2013 DA - 2013// TI - A phase 2 study of migalastat hydrochloride in females with fabry disease: selection of population, safety and pharmacodynamic effects JO - Mol Genet Metab VL - 109 UR - https://doi.org/10.1016/j.ymgme.2013.01.009 DO - 10.1016/j.ymgme.2013.01.009 ID - Giugliani2013 ER - TY - JOUR AU - Ishii, S. PY - 2012 DA - 2012// TI - Pharmacological chaperone therapy for fabry disease JO - Proceedings of the Japan Academy VL - 88 UR - https://doi.org/10.2183/pjab.88.18 DO - 10.2183/pjab.88.18 ID - Ishii2012 ER - TY - STD TI - Fabry_CEP. [http://www.icb.cnr.it/project/fabry_cep/] UR - http://www.icb.cnr.it/project/fabry_cep/ ID - ref5 ER - TY - STD TI - Cammisa M, Correra A, Andreotti G, Cubellis MV: Identification and analysis of conserved pockets on protein surfaces. BMC Bioinforma. 2013, 14 (Suppl 7): ID - ref6 ER - TY - JOUR AU - Siekierska, A. AU - De Baets, G. AU - Reumers, J. AU - Gallardo, R. AU - Rudyak, S. AU - Broersen, K. AU - Couceiro, J. AU - Van Durme, J. AU - Schymkowitz, J. AU - Rousseau, F. PY - 2012 DA - 2012// TI - Alpha-galactosidase aggregation is a determinant of pharmacological chaperone efficacy on fabry disease mutants JO - J Biol Chem VL - 287 UR - https://doi.org/10.1074/jbc.M112.351056 DO - 10.1074/jbc.M112.351056 ID - Siekierska2012 ER - TY - JOUR AU - Fernandez-Escamilla, A. M. AU - Rousseau, F. AU - Schymkowitz, J. AU - Serrano, L. PY - 2004 DA - 2004// TI - Prediction of sequence-dependent and mutational effects on the aggregation of peptides and proteins JO - Nat Biotechnol VL - 22 UR - https://doi.org/10.1038/nbt1012 DO - 10.1038/nbt1012 ID - Fernandez-Escamilla2004 ER - TY - JOUR AU - Andreotti, G. AU - Guarracino, M. R. AU - Cammisa, M. AU - Correra Cubellis, M. V. PY - 2010 DA - 2010// TI - Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study JO - Orphanet J Rare Dis VL - 5 UR - https://doi.org/10.1186/1750-1172-5-36 DO - 10.1186/1750-1172-5-36 ID - Andreotti2010 ER -