Search Results - "Surace, Enrico M"

Intein-mediated protein trans-splicing expands adeno-associated virus transfer capacity in the retina by Tornabene, Patrizia, Trapani, Ivana, Minopoli, Renato, Centrulo, Miriam, Lupo, Mariangela, de Simone, Sonia, Tiberi, Paola, Dell'Aquila, Fabio, Marrocco, Elena, Iodice, Carolina, Iuliano, Antonella, Gesualdo, Carlo, Rossi, Settimio, Giaquinto, Laura, Albert, Silvia, Hoyng, Carel B, Polishchuk, Elena, Cremers, Frans P M, Surace, Enrico M, Simonelli, Francesca, De Matteis, Maria A, Polishchuk, Roman, Auricchio, Alberto

“…Retinal gene therapy with adeno-associated viral (AAV) vectors holds promises for treating inherited and noninherited diseases of the eye. Although clinical…”
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Three-Year Follow-up after Unilateral Subretinal Delivery of Adeno-Associated Virus in Patients with Leber Congenital Amaurosis Type 2 by Testa, Francesco, MD, PhD, Maguire, Albert M., MD, Rossi, Settimio, MD, Pierce, Eric A., MD, PhD, Melillo, Paolo, PhD, Marshall, Kathleen, COT, Banfi, Sandro, MD, Surace, Enrico M., DVM, Sun, Junwei, MS, Acerra, Carmela, BA, Wright, J. Fraser, PhD, Wellman, Jennifer, MS, High, Katherine A., MD, Auricchio, Alberto, MD, Bennett, Jean, MD, PhD, Simonelli, Francesca, MD

“…Objective The aim of this study was to show the clinical data of long-term (3-year) follow-up of 5 patients affected by Leber congenital amaurosis type 2…”
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Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis by Maguire, Maureen G, Maguire, Albert M, Simonelli, Francesca, Pierce, Eric A, Pugh, Edward N, Mingozzi, Federico, Bennicelli, Jeannette, Banfi, Sandro, Marshall, Kathleen A, Testa, Francesco, Surace, Enrico M, Rossi, Settimio, Lyubarsky, Arkady, Arruda, Valder R, Konkle, Barbara, Stone, Edwin, Sun, Junwei, Jacobs, Jonathan, Dell'Osso, Lou, Hertle, Richard, Ma, Jian-xing, Redmond, T. Michael, Zhu, Xiaosong, Hauck, Bernd, Zelenaia, Olga, Shindler, Kenneth S, Wright, J. Fraser, Volpe, Nicholas J, McDonnell, Jennifer Wellman, Auricchio, Alberto, High, Katherine A, Bennett, Jean

“…Leber's congenital amaurosis (LCA) is a group of inherited disorders involving retinal degeneration with severe vision loss noted in early infancy. The…”
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miR‐181a/b downregulation exerts a protective action on mitochondrial disease models by Indrieri, Alessia, Carrella, Sabrina, Romano, Alessia, Spaziano, Alessandra, Marrocco, Elena, Fernandez‐Vizarra, Erika, Barbato, Sara, Pizzo, Mariateresa, Ezhova, Yulia, Golia, Francesca M, Ciampi, Ludovica, Tammaro, Roberta, Henao‐Mejia, Jorge, Williams, Adam, Flavell, Richard A, De Leonibus, Elvira, Zeviani, Massimo, Surace, Enrico M, Banfi, Sandro, Franco, Brunella

“…Mitochondrial diseases (MDs) are a heterogeneous group of devastating and often fatal disorders due to defective oxidative phosphorylation. Despite the recent…”
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Gene therapy of inherited retinal degenerations: prospects and challenges by Trapani, Ivana, Banfi, Sandro, Simonelli, Francesca, Surace, Enrico M, Auricchio, Alberto

“…Because of its favorable anatomical and immunological characteristics, the eye has been at the forefront of translational gene therapy. Dozens of promising…”
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Novel Adeno-Associated Virus Serotypes Efficiently Transduce Murine Photoreceptors by ALLOCCA, Mariacarmela, MUSSOLINO, Claudio, AURICCHIO, Alberto, GARCIA-HOYOS, Maria, SANGES, Daniela, IODICE, Carolina, PETRILLO, Marco, VANDENBERGHE, Luk H, WILSON, James M, MARIGO, Valeria, SURACE, Enrico M

“…Article Usage Stats Services JVI Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Inclusion of a degron reduces levelsof undesired inteins after AAV-mediated proteintrans-splicing in the retina by Tornabene, Patrizia, Trapani, Ivana, Centrulo, Miriam, Marrocco, Elena, Minopoli, Renato, Lupo, Mariangela, Iodice, Carolina, Gesualdo, Carlo, Simonelli, Francesca, Surace, Enrico M, Auricchio, Alberto

“…Split intein-mediated protein trans- splicing expands AAV transfer capacity, thus overcoming the limited AAV cargo. However, non-mammalian inteins persist as…”
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The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells by Palmisano, Ilaria, Bagnato, Paola, Palmigiano, Angela, Innamorati, Giulio, Rotondo, Giuseppe, Altimare, Domenico, Venturi, Consuelo, Sviderskaya, Elena V., Piccirillo, Rosanna, Coppola, Massimiliano, Marigo, Valeria, Incerti, Barbara, Ballabio, Andrea, Surace, Enrico M., Tacchetti, Carlo, Bennett, Dorothy C., Schiaffino, Maria Vittoria

“…The protein product of the ocular albinism type 1 gene, named OA1, is a pigment cell-specific G protein-coupled receptor exclusively localized to intracellular…”
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Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model by Patrizi, Clarissa, Llado, Manel, Benati, Daniela, Iodice, Carolina, Marrocco, Elena, Guarascio, Rosellina, Surace, Enrico M., Cheetham, Michael E., Auricchio, Alberto, Recchia, Alessandra

“…Retinitis pigmentosa (RP) is a group of progressive retinal degenerations of mostly monogenic inheritance, which cause blindness in about 1:3,500 individuals…”
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Versatility of AAV vectors for retinal gene transfer by Surace, Enrico M., Auricchio, Alberto

“…Gene therapy represents a promising therapeutic option for many inherited and acquired retinal diseases. Recombinant adeno-associated viral vectors (AAV) are…”
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Gene Therapy for Leber's Congenital Amaurosis is Safe and Effective Through 1.5 Years After Vector Administration by Simonelli, Francesca, Maguire, Albert M, Testa, Francesco, Pierce, Eric A, Mingozzi, Federico, Bennicelli, Jeannette L, Rossi, Settimio, Marshall, Kathleen, Banfi, Sandro, Surace, Enrico M, Sun, Junwei, Redmond, T Michael, Zhu, Xiaosong, Shindler, Kenneth S, Ying, Gui-Shuang, Ziviello, Carmela, Acerra, Carmela, Wright, J Fraser, McDonnell, Jennifer Wellman, High, Katherine A, Bennett, Jean, Auricchio, Alberto

“…The safety and efficacy of gene therapy for inherited retinal diseases is being tested in humans affected with Leber's congenital amaurosis (LCA), an autosomal…”
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Inhibition of Ocular Neovascularization by Hedgehog Blockade by Surace, Enrico M, Balaggan, Kamaljit S, Tessitore, Alessandra, Mussolino, Claudio, Cotugno, Gabriella, Bonetti, Ciro, Vitale, Aniello, Ali, Robin R, Auricchio, Alberto

“…Ocular neovascularization associated with proliferative diabetic retinopathy and age-related macular degeneration is the leading cause of severe visual loss in…”
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Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides by Vetrini, Francesco, Tammaro, Roberta, Bondanza, Sergio, Surace, Enrico M., Auricchio, Alberto, De Luca, Michele, Ballabio, Andrea, Marigo, Valeria

“…An intronic point mutation was identified in the ocular albinism type 1 (OA1) gene (HUGO symbol, GPR143) in a family with the X‐linked form of ocular albinism…”
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The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition by Giordano, Francesca, Bonetti, Ciro, Surace, Enrico M., Marigo, Valeria, Raposo, Graça

“…OA1 (GPR143; GPCR, G-protein-coupled receptor), the protein product of the ocular albinism type 1 gene, encodes a pigment-cell-specific GPCR that localizes…”
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Non-erythropoietic erythropoietin derivatives protect from light-induced and genetic photoreceptor degeneration by COLELLA, Pasqualina, IODICE, Carolina, DI VICINO, Umberto, ANNUNZIATA, Ida, SURACE, Enrico M, AURICCHIO, Alberto

“…Given the high genetic heterogeneity of inherited retinal degenerations (IRDs), a wide applicable treatment would be desirable to halt/slow progressive…”
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Combined rod and cone transduction by adeno-associated virus 2/8 by Manfredi, Anna, Marrocco, Elena, Puppo, Agostina, Cesi, Giulia, Sommella, Andrea, Della Corte, Michele, Rossi, Settimio, Giunti, Massimo, Craft, Cheryl M, Bacci, Maria Laura, Simonelli, Francesca, Surace, Enrico M, Auricchio, Alberto

“…Gene transfer to both cone and rod photoreceptors (PRs) is essential for gene therapy of inherited retinal degenerations that are caused by mutations in genes…”
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Delivery of Adeno-Associated Virus Vectors to the Fetal Retina: Impact of Viral Capsid Proteins on Retinal Neuronal Progenitor Transduction by Surace, Enrico M, Auricchio, Alberto, Reich, Samuel J, Rex, Tonia, Glover, Ernest, Pineles, Stacey, Tang, Waixing, O'Connor, Erin, Lyubarsky, Arkady, Savchenko, Andrey, Pugh, Jr, Edward N, Maguire, Albert M, Wilson, James M, Bennett, Jean

“…Article Usage Stats Services JVI Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Efficacy of a Combined Intracerebral and Systemic Gene Delivery Approach for the Treatment of a Severe Lysosomal Storage Disorder by Spampanato, Carmine, De Leonibus, Elvira, Dama, Paola, Gargiulo, Annagiusi, Fraldi, Alessandro, Sorrentino, Nicolina Cristina, Russo, Fabio, Nusco, Edoardo, Auricchio, Alberto, Surace, Enrico M, Ballabio, Andrea

“…Multiple sulfatase deficiency (MSD), a severe autosomal recessive disease is caused by mutations in the sulfatase modifying factor 1 gene (Sumf1). We have…”
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The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells by Palmisano, Ilaria, Bagnato, Paola, Palmigiano, Angela, Innamorati, Giulio, Rotondo, Giuseppe, Altimare, Domenico, Venturi, Consuelo, Sviderskaya, Elena V, Piccirillo, Rosanna, Coppola, Massimiliano, Marigo, Valeria, Incerti, Barbara, Ballabio, Andrea, Surace, Enrico M, Tacchetti, Carlo, Bennett, Dorothy C, Schiaffino, Maria Vittoria

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Access to cerebrospinal fluid in piglets via the cisterna magna: optimization and description of the technique by Romagnoli, Noemi, Ventrella, Domenico, Giunti, Massimo, Dondi, Francesco, Sorrentino, Nicolina C, Fraldi, Alessandro, Surace, Enrico M, Bacci, Maria L

“…The collection of cerebrospinal fluid is necessary in order to determine its composition. It can then be used to diagnose various diseases. The aim of the…”
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