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Titolo Data di pubblicazione Autore(i) File
Rapid profiling of disease alleles using a tunable reporter of protein misfolding 1-gen-2012 Pittman, A. M. C.; Lage, M. D.; Poltoratsky, V.; Vrana, J. D.; Paiardini, A.; Roncador, Alessandro; Cellini, Barbara; Hughes, R. M.; Tucker, C. L.
Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase 1-gen-2013 Oppici, Elisa; Roncador, Alessandro; Montioli, Riccardo; Bianconi, Silvia; Cellini, Barbara
S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine 1-gen-2013 Montioli, Riccardo; Oppici, Elisa; Cellini, Barbara; Roncador, Alessandro; Dindo, Mirco; Voltattorni, Carla
Tat-mediated delivery of human alanine:glyoxylate aminotransferase in a cellular model of Primary Hyperoxaluria Type I 1-gen-2013 Roncador, A.; Oppici, E.; Montioli, R.; Maset, F.; Cellini, B.
Allele-specific Characterization of Alanine: Glyoxylate Aminotransferase Variants Associated with Primary Hyperoxaluria 1-gen-2014 Jose M., Sanchez Ruiz; Melissa D., Lage; Adrianne M. C., Pittman; Roncador, Alessandro; Cellini, Barbara; Chandra L., Tucker
THE DEFICIT OF ALANINE:GLYOXYLATE AMINOTRANSFERASE LEADS TO PRIMARY HYPEROXALURIA TYPE I: A BIOCHEMICAL STUDY TO UNDERSTAND THE ROLE OF INTERALLELIC COMPLEMENTATION IN COMPOUND HETEROZYGOUS PATIENTS AND TO PROJECT THE DEVELOPMENT OF AN ENZYME ADMINISTRATION THERAPY. 1-gen-2014 Roncador, Alessandro
S81 L and G170R mutations causing Primary Hyperoxaluria Type I in homozygosis and heterozygosis: an example of positive interallelic complementation. 1-gen-2014 Montioli, Riccardo; Roncador, Alessandro; Oppici, Elisa; Mandrile, G; Giachino, Df; Cellini, Barbara; Voltattorni, Cb
Misfolding caused by the pathogenic mutation G47R on the minor allele of alanine:glyoxylate aminotransferase and chaperoning activity of pyridoxine 1-gen-2015 Montioli, Riccardo; Oppici, Elisa; Dindo, Mirco; Roncador, Alessandro; Gotte, Giovanni; Cellini, Barbara; Borri Voltattorni, Carla
Use of polymer conjugates for the intraperoxisomal delivery of engineered human alanine:glyoxylate aminotransferase as a protein therapy for primary hyperoxaluria type I 1-gen-2017 Roncador, Alessandro; Oppici, Elisa; Talelli, Marina; Pariente, Amaya Niño; Donini, Marta; Dusi, Stefano; Voltattorni, Carla Borri; Vicent, María J; Cellini, Barbara
Mostrati risultati da 1 a 9 di 9
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