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Mostrati risultati da 1 a 5 di 5
Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts
2002-01-01 Forlino, Antonella; Lupi, ANNA LISA; Vaghi, Patrizia; ICARO CORNAGLIA, Antonia; Calligaro, Alberto; Campari, Elena; Cetta, Giuseppe
Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship.
2004-01-01 Lupi, ANNA LISA; De Riso, A; DELLA TORRE, Sara; Rossi, Antonio; Campari, Elena; Vilarinho, L; Cetta, Giuseppe; Forlino, Antonella
Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family.
2006-01-01 Lupi, ANNA LISA; Rossi, Antonio; Campari, Elena; Pecora, Fabio; Lund, A. M.; Elcioglu, N. h.; Gultepe, M.; Di Rocco, M.; Cetta, Giuseppe; Forlino, Antonella
Human recombinant prolidase from eukaryotic and prokaryotic sources. Expression, purification, characterization and long-term stability studies.
2006-01-01 Lupi, Anna; Della Torre, S.; Campari, Elena; Tenni, Ruggero; Cetta, Giuseppe; Rossi, Antonio; Forlino, Antonella
Differential expression of both extracellular and intracellular proteins is involved in the lethal or nonlethal phenotypic variation of BrtlIV, a murine model for osteogenesis imperfecta
2007-01-01 Forlino, Antonella; Tani, C.; Rossi, Antonio; Lupi, ANNA LISA; Campari, Elena; Gualeni, Benedetta; Bianchi, L.; Armini, A.; Cetta, Giuseppe; Bini, L.; Marini, J. C.
Mostrati risultati da 1 a 5 di 5
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