Trasferimento genetico mediato da virus adeno-associati in modelli animali di mucopolisaccaridosi VI
- 5 Anni 2006/2011
- 430.147€ Totale Fondi
La Mucopolisaccaridosi di tipo VI (MPS VI) o sindrome di Maroteaux-Lamy è una rara malattia ereditaria caratterizzata da anomalie delle cartilagini, ossa, fegato, milza, valvole cardiache e cornea. Lo sviluppo pisco-motorio è generalmente normale nella MPS VI. Il principio per lo sviluppo di terapie per la MPS VI è che l'enzima deficitario, ARSB, viene secreto da una cellula e prelevato da una cellula adiacente che viene "cross corretta" anche se non produce l'enzima. Questo progetto ha lo scopo di sviluppare terapia genica per MPS VI utilizzando un piccolo virus (adeno-associato) modificato in maniera che introduca il gene per l'enzima ARSB nel muscolo o nel fegato di modelli animali di MPS VI. Proponiamo anche di caratterizzare a livello molecolare e clinico pazienti italiani affetti da MPS VI per capire la storia clinica e la progressione della malattia.
Pubblicazioni Scientifiche
- 2006 MOLECULAR THERAPY
Preferential silencing of a common dominant rhodopsin mutation does not inhibit retinal degeneration in a transgenic model
- 2005 DIABETES
Nonhuman primate models for diabetic ocular neovaseularization using AAV2-mediated overexpression of vascular endothelial growth factor
- 2005 HUMAN GENE THERAPY
Long-term inducible gene expression in the eye via adeno-associated virus gene transfer in nonhuman primates
- 2011 MOLECULAR THERAPY
Long-term Amelioration of Feline Mucopolysaccharidosis VI After AAV-mediated Liver Gene Transfer
- 2008 JOURNAL OF CLINICAL INVESTIGATION
Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice
- 2005 CURRENT GENE THERAPY
Adeno-associated viral vectors for retinal gene transfer and treatment of retinal diseases
- 2003 HUMAN GENE THERAPY
Efficient trans-splicing in the retina expands the utility of adeno-associated virus as a vector for gene therapy
- 2010 CURRENT GENE THERAPY
AAV-Mediated Gene Supply for Treatment of Degenerative and Neovascular Retinal Diseases
- 2006 EXPERT OPINION ON BIOLOGICAL THERAPY
AAV-mediated gene transfer for retinal diseases
- 2009 GENE THERAPY
Isolation and evaluation of novel adeno-associated virus sequences from porcine tissues
- 2008 VISION RESEARCH
Versatility of AAV vectors for retinal gene transfer
- 2010 HUMAN GENE THERAPY
Different Serum Enzyme Levels Are Required to Rescue the Various Systemic Features of the Mucopolysaccharidoses
- 2003 JOURNAL OF VIROLOGY
Delivery of adeno-associated virus vectors to the fetal retina: Impact of viral capsid proteins on retinal neuronal progenitor transduction
- 2013 JOURNAL OF INHERITED METABOLIC DISEASE
Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI
- 2003 VISION RESEARCH
Pseudotyped AAV vectors for constitutive and regulated gene expression in the eye
