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The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.
Flanagan JJ, Rossi B, Tang K, Wu X, Mascioli K, Donaudy F, Tuzzi MR, Fontana F, Cubellis MV, Porto C, Benjamin E, Lockhart DJ, Valenzano KJ, Andria G, Parenti G, Do HV. Flanagan JJ, et al. Among authors: parenti g. Hum Mutat. 2009 Dec;30(12):1683-92. doi: 10.1002/humu.21121. Hum Mutat. 2009. PMID: 19862843
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease.
Porto C, Pisani A, Rosa M, Acampora E, Avolio V, Tuzzi MR, Visciano B, Gagliardo C, Materazzi S, la Marca G, Andria G, Parenti G. Porto C, et al. Among authors: parenti g. J Inherit Metab Dis. 2012 May;35(3):513-20. doi: 10.1007/s10545-011-9424-3. Epub 2011 Dec 21. J Inherit Metab Dis. 2012. PMID: 22187137
Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease.
Spampanato C, Feeney E, Li L, Cardone M, Lim JA, Annunziata F, Zare H, Polishchuk R, Puertollano R, Parenti G, Ballabio A, Raben N. Spampanato C, et al. Among authors: parenti g. EMBO Mol Med. 2013 May;5(5):691-706. doi: 10.1002/emmm.201202176. Epub 2013 Apr 18. EMBO Mol Med. 2013. PMID: 23606558 Free PMC article.
401 results