Research Topics
| Paola Di NataleSummaryAffiliation: Federico II University Country: Italy Publications
| Collaborators
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Detail Information
Publications
Analysis of Sanfilippo A gene mutations in a large pedigreeP Di Natale
Dipartimento di Biochimica e Biotecnologie Mediche, University of Naples Federico II, Italy
Clin Genet 63:314-8. 2003..This study places R433Q as a severe mutation underlying Sanfilippo A disease...
Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vectorPaola Di Natale
Department of Biochemistry and Medical Biotechnologies, University of Naples Federico II, Via S Pansini n 5, 80131 Naples, Italy
Biochem J 388:639-46. 2005..Interestingly, the decrease in GAG levels was maintained in liver, spleen, lung and heart of treated mice. These results show the promising potential and the limitations of lentiviral-NAGLU vector to deliver the human NAGLU gene in vivo...
Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIAP Di Natale
Department of Biochemistry and Medical Biotechnologies, University of Naples Federico II, Italy
Hum Genet 119:679. 2006
Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI diseasePaola Di Natale
Department of Biochemistry and Medical Biotechnologies, University of Naples Federico II, Naples, Italy
Biotechnol Appl Biochem 49:219-23. 2008..In addition to its role as a potential biomarker, TNFalpha expression could provide insights into the possible pathophysiological mechanisms underlying the mucopolysaccharidoses...
Serum MIP-1 alpha level: a biomarker for the follow-up of lentiviral therapy in mucopolysaccharidosis IIIB micePaola Di Natale
Department of Biochemistry and Medical Biotechnologies, University of Naples Federico II, Via Sergio Pansini n 5, 80131 Naples, Italy
J Inherit Metab Dis 33:159-65. 2010..Our studies suggest MIP-1alpha as the first serum biomarker that could be used to monitor disease progression and treatment for MPS IIIB disease...
