Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Elena Marrocco"'
Autor:
Iolanda Boffa, Elena Polishchuk, Lucia De Stefano, Fabio Dell'Aquila, Edoardo Nusco, Elena Marrocco, Matteo Audano, Silvia Pedretti, Marianna Caterino, Ilaria Bellezza, Margherita Ruoppolo, Nico Mitro, Barbara Cellini, Alberto Auricchio, Nicola Brunetti‐Pierri
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 4, Pp n/a-n/a (2023)
Abstract Gyrate atrophy of choroid and retina (GACR) is a chorioretinal degeneration caused by pathogenic variants in the gene encoding ornithine aminotransferase (OAT), an enzyme mainly expressed in liver. Affected patients have increased ornithine
Externí odkaz:
https://doaj.org/article/e07eec5ef9114bf685675cb9215d0081
Autor:
Patrizia Tornabene, Rita Ferla, Manel Llado-Santaeularia, Miriam Centrulo, Margherita Dell’Anno, Federica Esposito, Elena Marrocco, Emanuela Pone, Renato Minopoli, Carolina Iodice, Edoardo Nusco, Settimio Rossi, Hristiana Lyubenova, Anna Manfredi, Lucio Di Filippo, Antonella Iuliano, Annalaura Torella, Giulio Piluso, Francesco Musacchia, Enrico Maria Surace, Davide Cacchiarelli, Vincenzo Nigro, Alberto Auricchio
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
Limits of AAV-mediated gene therapy include targeting dominant mutations and inducing long-term transgene expression. Here, the authors show that AAV-HITI results in efficient allele-independent integration of a donor DNA in both retina and liver pro
Externí odkaz:
https://doaj.org/article/eff364ba6a29484688084b394c9c396c
Autor:
Patrizia Tornabene, Ivana Trapani, Miriam Centrulo, Elena Marrocco, Renato Minopoli, Mariangela Lupo, Carolina Iodice, Carlo Gesualdo, Francesca Simonelli, Enrico M. Surace, Alberto Auricchio
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 23, Iss , Pp 448-459 (2021)
Split intein-mediated protein trans-splicing expands AAV transfer capacity, thus overcoming the limited AAV cargo. However, non-mammalian inteins persist as trans-splicing by-products, and this could raise safety concerns for AAV intein clinical appl
Externí odkaz:
https://doaj.org/article/ff90e9e823594252bf35342e1bb5bf45
Autor:
Sabrina Carrella, Martina Di Guida, Simona Brillante, Davide Piccolo, Ludovica Ciampi, Irene Guadagnino, Jorge Garcia Piqueras, Mariateresa Pizzo, Elena Marrocco, Marta Molinari, Georgios Petrogiannakis, Sara Barbato, Yulia Ezhova, Alberto Auricchio, Brunella Franco, Elvira De Leonibus, Enrico Maria Surace, Alessia Indrieri, Sandro Banfi
Publikováno v:
EMBO Molecular Medicine, Vol 14, Iss 11, Pp n/a-n/a (2022)
Abstract Inherited retinal diseases (IRDs) are a group of diseases whose common landmark is progressive photoreceptor loss. The development of gene‐specific therapies for IRDs is hampered by their wide genetic heterogeneity. Mitochondrial dysfuncti
Externí odkaz:
https://doaj.org/article/5ffcd1e1e6b74894ad6d8849c7cb89e8
Autor:
Maria De Risi, Michele Tufano, Filomena Grazia Alvino, Maria Grazia Ferraro, Giulia Torromino, Ylenia Gigante, Jlenia Monfregola, Elena Marrocco, Salvatore Pulcrano, Lea Tunisi, Claudia Lubrano, Dulce Papy-Garcia, Yaakov Tuchman, Alberto Salleo, Francesca Santoro, Gian Carlo Bellenchi, Luigia Cristino, Andrea Ballabio, Alessandro Fraldi, Elvira De Leonibus
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
Lysosomal storage disorders, characterized by altered metabolism of heparan sulfate, cause autistic symptoms followed by dementia in children. Here, the authors show that embryonic dopaminergic neurodevelopmental defects due to altered function of he
Externí odkaz:
https://doaj.org/article/5ebeb3f36eeb489b8e165e8571b181e3
Autor:
Daniela Intartaglia, Giuliana Giamundo, Elena Marrocco, Veronica Maffia, Francesco Giuseppe Salierno, Edoardo Nusco, Alessandro Fraldi, Ivan Conte, Nicolina Cristina Sorrentino
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
Mucopolysaccharidosis type IIIA (MPS-IIIA, Sanfilippo A) is one of the most severe lysosomal storage disorder (LSD) caused by the inherited deficiency of sulfamidase, a lysosomal sulfatase enzyme involved in the stepwise degradation of heparan sulfat
Externí odkaz:
https://doaj.org/article/06569c6c482541f1ba8b2d42df45a6ef
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 11, p 5767 (2021)
Gene-expression programs modulated by transcription factors (TFs) mediate key developmental events. Here, we show that the synthetic transcriptional repressor (TR; ZF6-DB), designed to treat Rhodopsin-mediated autosomal dominant retinitis pigmentosa
Externí odkaz:
https://doaj.org/article/7d75fef33f924297a1b90a6153561146
Autor:
Salvatore Botta, Elena Marrocco, Nicola de Prisco, Fabiola Curion, Mario Renda, Martina Sofia, Mariangela Lupo, Annamaria Carissimo, Maria Laura Bacci, Carlo Gesualdo, Settimio Rossi, Francesca Simonelli, Enrico Maria Surace
Publikováno v:
eLife, Vol 5 (2016)
Transcription factors (TFs) operate by the combined activity of their DNA-binding domains (DBDs) and effector domains (EDs) enabling the coordination of gene expression on a genomic scale. Here we show that in vivo delivery of an engineered DNA-bindi
Externí odkaz:
https://doaj.org/article/9cf8a90d8ad94a369b70dc5ca96e1f4d
Autor:
Pasqualina Colella, Andrea Sommella, Elena Marrocco, Umberto Di Vicino, Elena Polishchuk, Marina Garcia Garrido, Mathias W Seeliger, Roman Polishchuk, Alberto Auricchio
Publikováno v:
PLoS ONE, Vol 8, Iss 8, p e72027 (2013)
Mutations in MYO7A cause autosomal recessive Usher syndrome type IB (USH1B), one of the most frequent conditions that combine severe congenital hearing impairment and retinitis pigmentosa. A promising therapeutic strategy for retinitis pigmentosa is
Externí odkaz:
https://doaj.org/article/8ef3520051bc4826988cf661a0860982
Autor:
Agostina Puppo, Alexander Bello, Anna Manfredi, Giulia Cesi, Elena Marrocco, Michele Della Corte, Settimio Rossi, Massimo Giunti, Maria Laura Bacci, Francesca Simonelli, Enrico Maria Surace, Gary P Kobinger, Alberto Auricchio
Publikováno v:
PLoS ONE, Vol 8, Iss 3, p e59025 (2013)
Recombinant adeno-associated viral (AAV) vectors are known to safely and efficiently transduce the retina. Among the various AAV serotypes available, AAV2/5 and 2/8 are the most effective for gene transfer to photoreceptors (PR), which are the most r
Externí odkaz:
https://doaj.org/article/c27b4ba715774c49ae34956b65b4bf20