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Your search keyword '"Parente V"' showing total 4 results
Start Over Author "Parente V" Topic dystrophin
4 results on '"Parente V"'

1. Chimeric adeno-associated virus/antisense U1 small nuclear RNA effectively rescues dystrophin synthesis and muscle function by local treatment of mdx mice.

Author

Denti MA, Rosa A, D'Antona G, Sthandier O, De Angelis FG, Nicoletti C, Allocca M, Pansarasa O, Parente V, Musarò A, Auricchio A, Bottinelli R, and Bozzoni I

Subjects
Animals, Base Sequence, DNA, Recombinant, Genetic Vectors, Injections, Intramuscular, Mice, Mice, Inbred mdx genetics, Molecular Sequence Data, Muscle Fibers, Skeletal physiology, RNA, Antisense therapeutic use, Recombinant Fusion Proteins genetics, Recombinant Fusion Proteins therapeutic use, Dependovirus genetics, Dystrophin metabolism, Genetic Therapy, Muscular Dystrophy, Animal therapy, RNA, Small Nuclear genetics
Abstract

Duchenne muscular dystrophy (DMD) is a X-linked myopathy in which deletions and point mutations in the dystrophin gene abolish dystrophin expression. The defect can often be corrected at the posttranscriptional level by exon skipping. In an animal model of DMD, the mdx mouse, a point mutation in exon 23 of the dystrophin gene introduces a premature stop codon. Skipping of this exon reestablishes the open reading frame in the dystrophin mRNA. We have obtained persistent exon skipping in mdx mice by local muscle injection of AAV vectors expressing antisense sequences fused to either U1 or U7 small nuclear RNA (snRNA). In the transduced muscles, dystrophin expression, amelioration of muscle morphology, and significant force recovery were obtained. These data indicate that the expression of antisense snRNAs, combined with their efficient muscular delivery through AAV vectors, is a powerful strategy for the therapeutic treatment of DMD. Like U7 snRNA, spliceosomal U1 snRNA is also a suitable backbone for the expression of antisense molecules active in exon skipping.

Published
2006
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2. Functional and morphological recovery of dystrophic muscles in mice treated with deacetylase inhibitors.

Author

Minetti, G. C., Colussi, C., Adami, R., Serra, C., Mozzetta, C., Parente, V., Fortuni, S., Straino, S., Sampaolesi, M., Di Padova, M., Illi, B., Gallinari, P., Steinkühler, C., Capogrossi, M. C., Sartorelli, V., Bottinelli, R., Gaetano, C., and Puri, P. L.

Subjects
MUSCULAR dystrophy, MUSCULAR dystrophy treatment, LABORATORY mice, DYSTROPHIN, FOLLISTATIN, HISTONE deacetylase
Abstract

Pharmacological interventions that increase myofiber size counter the functional decline of dystrophic muscles. We show that deacetylase inhibitors increase the size of myofibers in dystrophin-deficient (MDX) and α-sarcoglycan (α-SG)–deficient mice by inducing the expression of the myostatin antagonist follistatin in satellite cells. Deacetylase inhibitor treatment conferred on dystrophic muscles resistance to contraction-coupled degeneration and alleviated both morphological and functional consequences of the primary genetic defect. These results provide a rationale for using deacetylase inhibitors in the pharmacological therapy of muscular dystrophies. [ABSTRACT FROM AUTHOR]

Published
2006
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3. Body-wide gene therapy of Duchenne muscular dystrophy in the mdx mouse model

Author

Carmine Nicoletti, Alberto Auricchio, Giuseppe D'Antona, Antonio Musarò, Irene Bozzoni, Mariacarmela Allocca, Michela Alessandra Denti, Orietta Pansarasa, Roberto Bottinelli, Valeria Parente, Fernanda Gabriella De Angelis, Olga Sthandier, Alessandro Rosa, Denti, M. A., Rosa, A., Dantona, G., Sthandier, O., DE ANGELIS, F. G., Nicoletti, C., Allocca, M., Pansarasa, O., Parente, V., Musar, A., Auricchio, Alberto, Bottinelli, R., and Bozzoni, I. .

Subjects
Male, mdx mouse, Duchenne muscular dystrophy, Genetic Vectors, Molecular Sequence Data, adeno-associated virus vectors, antisense, duchenne muscular dystrophy, dystrophin, exon skipping, small nuclear rna, snrna, Oligodeoxyribonucleotides, Antisense, Dystrophin, Exon, Mice, RNA, Small Nuclear, Utrophin, medicine, Animals, Humans, Muscular dystrophy, Muscle, Skeletal, Multidisciplinary, biology, Base Sequence, Exons, Genetic Therapy, Dependovirus, Biological Sciences, medicine.disease, Molecular biology, Exon skipping, Mice, Inbred C57BL, Muscular Dystrophy, Duchenne, biology.protein, Mice, Inbred mdx, ITGA7
Abstract

Duchenne muscular dystrophy is an X-linked muscle disease characterized by mutations in the dystrophin gene. Many of these can be corrected at the posttranscriptional level by skipping the mutated exon. We have obtained persistent exon skipping in mdx mice by tail vein injection with an adeno-associated viral (AAV) vector expressing antisense sequences as part of the stable cellular U1 small nuclear RNA. Systemic delivery of the AAV construct resulted in effective body-wide colonization, significant recovery of the functional properties in vivo , and lower creatine kinase serum levels, suggesting an overall decrease in muscle wasting. The transduced muscles rescued dystrophin expression and displayed a significant recovery of function toward the normal values at single muscle fiber level. This approach provides solid bases for a systemic use of AAV-mediated antisense-U1 small nuclear RNA expression for the therapeutic treatment of Duchenne muscular dystrophy.

Published
2006

4. Chimeric Adeno-Associated Virus/Antisense U1 Small Nuclear RNA Effectively Rescues Dystrophin Synthesis and Muscle Function by Local Treatment of mdx Mice

Author

Irene Bozzoni, Carmine Nicoletti, Mariacarmela Allocca, Orietta Pansarasa, Michela Alessandra Denti, Antonio Musarò, Fernanda Gabriella De Angelis, Giuseppe D'Antona, Roberto Bottinelli, Olga Sthandier, Alberto Auricchio, Alessandro Rosa, Valeria Parente, Denti, M. A., Rosa, A., D'Antona, G., Sthandier, O., DE ANGELIS, F. G., Nicoletti, C., Allocca, M., Pansarasa, O., Parente, V., Musaro, A., Auricchio, Alberto, Bottinelli, R., and Bozzoni, I. .

Subjects
musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, mdx mouse, Recombinant Fusion Proteins, Duchenne muscular dystrophy, Genetic Vectors, Molecular Sequence Data, Muscle Fibers, Skeletal, DNA, Recombinant, medicine.disease_cause, Injections, Intramuscular, Dystrophin, Mice, Exon, RNA, Small Nuclear, Utrophin, medicine, Genetics, Animals, RNA, Antisense, Muscular dystrophy, Adeno-associated virus, Molecular Biology, Base Sequence, biology, Genetic Therapy, Dependovirus, Muscular Dystrophy, Animal, medicine.disease, Molecular biology, Exon skipping, Mice, Inbred mdx, biology.protein, Molecular Medicine
Abstract

Duchenne muscular dystrophy (DMD) is a X-linked myopathy in which deletions and point mutations in the dystrophin gene abolish dystrophin expression. The defect can often be corrected at the posttranscriptional level by exon skipping. In an animal model of DMD, the mdx mouse, a point mutation in exon 23 of the dystrophin gene introduces a premature stop codon. Skipping of this exon reestablishes the open reading frame in the dystrophin mRNA. We have obtained persistent exon skipping in mdx mice by local muscle injection of AAV vectors expressing antisense sequences fused to either U1 or U7 small nuclear RNA (snRNA). In the transduced muscles, dystrophin expression, amelioration of muscle morphology, and significant force recovery were obtained. These data indicate that the expression of antisense snRNAs, combined with their efficient muscular delivery through AAV vectors, is a powerful strategy for the therapeutic treatment of DMD. Like U7 snRNA, spliceosomal U1 snRNA is also a suitable backbone for the expression of antisense molecules active in exon skipping.

Published
2006
Full Text
View/download PDF

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