{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T07:41:48Z","timestamp":1791013308960,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2011,12,21]],"date-time":"2011-12-21T00:00:00Z","timestamp":1324425600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2012,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fabry disease (FD) is an X\u2010linked inherited disease due to alpha\u2010galactosidase A (alpha\u2010Gal A) deficiency and characterized by lysosomal storage of globotriaosylceramide (Gb3) and related neutral glycosphingolipids. Storage of these substrates results in multisystem manifestations, including renal failure, cardiomyopathy, premature myocardial infarctions, stroke, chronic neuronopathic pain, gastrointestinal disturbances, and skin angiokeratoma. Enzyme replacement therapy (ERT) with recombinant human alpha\u2010galactosidase A (rh\u2010alpha\u2010Gal A) is now available for the treatment of FD and in most patients results in clinical improvement or stabilization. However, ERT efficacy may vary in different tissues and its long\u2010term effects remain to be defined. As a strategy to improve the efficacy of ERT, we tested the combination of rh\u2010alpha\u2010Gal A with the chaperone molecule 1\u2010deoxynojirimycin (DGJ) in cultured FD fibroblasts with negligible residual enzyme activity. Compared to the effects of rh\u2010alpha\u2010Gal A alone, co\u2010administration of DGJ and rh\u2010alpha\u2010Gal A resulted in better correction (4.8 to 16.9\u2010fold) of intracellular alpha\u2010Gal A activity, and increased amounts of the enzyme within the lysosomal compartment. The clearance of lyso\u2010Gb3, one of the substrates stored in FD and a potent inhibitor of alpha\u2010Gal A, was also significantly improved with the co\u2010administration of DGJ and rh\u2010alpha\u2010Gal A. This study provides additional evidence for a synergistic effect between ERT and pharmacological chaperone therapy and supports the idea that the efficacy of combination protocols may be superior to ERT alone.<\/jats:p>","DOI":"10.1007\/s10545-011-9424-3","type":"journal-article","created":{"date-parts":[[2011,12,20]],"date-time":"2011-12-20T15:16:36Z","timestamp":1324394196000},"page":"513-520","source":"Crossref","is-referenced-by-count":44,"title":["Synergy between the pharmacological chaperone 1\u2010deoxygalactonojirimycin and the human recombinant alpha\u2010galactosidase A in cultured fibroblasts from patients with Fabry disease"],"prefix":"10.1002","volume":"35","author":[{"given":"Caterina","family":"Porto","sequence":"first","affiliation":[{"name":"Department of Pediatrics Federico II University Via S. 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Pansini 5 Naples 80131 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Rosaria","family":"Tuzzi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Federico II University Via S. Pansini 5 Naples 80131 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bianca","family":"Visciano","sequence":"additional","affiliation":[{"name":"Department of Nephrology Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Gagliardo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Federico II University Via S. Pansini 5 Naples 80131 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Materazzi","sequence":"additional","affiliation":[{"name":"Mass Spectrometry, Clinical Chemistry and Pharmacology Labs Meyer Hospital Florence Italy"},{"name":"Department of Pharmacology University of Florence Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giancarlo","family":"la Marca","sequence":"additional","affiliation":[{"name":"Mass Spectrometry, Clinical Chemistry and Pharmacology Labs Meyer Hospital Florence Italy"},{"name":"Department of Pharmacology University of Florence Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Generoso","family":"Andria","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Federico II University Via S. Pansini 5 Naples 80131 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giancarlo","family":"Parenti","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Federico II University Via S. Pansini 5 Naples 80131 Italy"},{"name":"Telethon Institute of Genetics and Medicine Via P. Castellino 111 Naples 80131 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,12,21]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0712309105"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1077-0"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/rcm.728"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8417-1-6"},{"key":"e_1_2_9_6_1","first-page":"1186","article-title":"Nature and frequency of mutations in the alpha\u2010galactosidase A gene that cause Fabry disease","volume":"53","author":"Eng CM","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.10.1795"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200107053450102"},{"key":"e_1_2_9_9_1","doi-asserted-by":"crossref","unstructured":"ElliottP BakerR PasqualeF et al. 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