Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Raffaella Melfi"'
Autor:
Riccardo Perriera, Emanuele Vitale, Ivana Pibiri, Pietro Salvatore Carollo, Davide Ricci, Federica Corrao, Ignazio Fiduccia, Raffaella Melfi, Maria Grazia Zizzo, Marco Tutone, Andrea Pace, Laura Lentini
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 20, p 15084 (2023)
Nonsense mutations cause several genetic diseases such as cystic fibrosis, Duchenne muscular dystrophy, β-thalassemia, and Shwachman–Diamond syndrome. These mutations induce the formation of a premature termination codon (PTC) inside the mRNA sequ
Externí odkaz:
https://doaj.org/article/5663dbfb9dbc499b869eb2cb424ba1ab
Autor:
Federica Corrao, Maria Grazia Zizzo, Marco Tutone, Raffaella Melfi, Ignazio Fiduccia, Pietro Salvatore Carollo, Aldo Di Leonardo, Gaetano Caldara, Riccardo Perriera, Andrea Pace, Beatrice Belmonte, Selene Sammataro, Ivana Pibiri, Laura Lentini
Publikováno v:
Biomedicine & Pharmacotherapy, Vol 156, Iss , Pp 113886- (2022)
Stop mutations cause 11% of the genetic diseases, due to the introduction of a premature termination codon (PTC) in the mRNA, followed by the production of a truncated protein. A promising therapeutic approach is the suppression therapy by Translatio
Externí odkaz:
https://doaj.org/article/96d8fcb1f02b48969527e8b5b31f7c6a
Autor:
Dario Savoca, Raffaella Melfi, Antonio Palumbo Piccionello, Salvatore Barreca, Silvestre Buscemi, Vincenzo Arizza, Marco Arculeo, Andrea Pace
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Abstract The first determination of presence and biodistribution of PFOA in ninety specimens of sea urchin Paracentrotus lividus from two differently contaminated sites along Palermo’s coastline (Sicily) is reported. Analyses were performed on the
Externí odkaz:
https://doaj.org/article/724b48a12eae4d45ae83353a4ba01ca6
Autor:
Roberta F. Chiavetta, Simona Titoli, Viviana Barra, Patrizia Cancemi, Raffaella Melfi, Aldo Di Leonardo
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 13, p 10940 (2023)
It is reported that about 10% of cystic fibrosis (CF) patients worldwide have nonsense (stop) mutations in the CFTR gene, which cause the premature termination of CFTR protein synthesis, leading to a truncated and non-functional protein. To address t
Externí odkaz:
https://doaj.org/article/8544a39bfafb4668b718a2e41ba59dab
Autor:
Pietro Salvatore Carollo, Marco Tutone, Giulia Culletta, Ignazio Fiduccia, Federica Corrao, Ivana Pibiri, Aldo Di Leonardo, Maria Grazia Zizzo, Raffaella Melfi, Andrea Pace, Anna Maria Almerico, Laura Lentini
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 11, p 9609 (2023)
Cystic Fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene, coding for the CFTR chloride channel. About 10% of the CFTR gene mutations are “stop” mutations that generate a premature termination codon (PTC)
Externí odkaz:
https://doaj.org/article/1d050d4f5ab14431b3009790e93f1566
Autor:
Matteo R. Di Nicola, Raffaella Melfi, Francesco P. Faraone, Daniel L.N. Iversen, Gabriele Giacalone, Giovanni Paolino, Mario Lo Valvo
Publikováno v:
Acta Herpetologica, Vol 17, Iss 2 (2022)
The Southern smooth snake, Coronella girondica, is a small-sized colubrid found in Northwest Africa and Southwest Europe. Mitochondrial DNA-based studies showed that the species can be split into five clades: two from Northwest Africa (one Moroccan a
Externí odkaz:
https://doaj.org/article/8dfa8f9a372740bdb62202afb5b1a737
Autor:
Dario Savoca, Marco Arculeo, Vincenzo Arizza, Andrea Pace, Raffaella Melfi, Santo Caracappa, Giulia Caracappa, Cecilia Vullo, Irene Cambera, Giulia Visconti, Vittoria Giudice, Gaetano D’Oca, Salvatore Messina, Antonella Maccotta
Publikováno v:
Environments, Vol 9, Iss 7, p 88 (2022)
In this study we compared the heavy metal concentration found in different tissues and eggs of the loggerhead sea turtle and evaluated the potential ecotoxicological risk for this important species. Eighteen heavy metal elements were determined in di
Externí odkaz:
https://doaj.org/article/5f77947c19414f8eb3818369092494a3
Autor:
Francesco Paolo Faraone, Raffaella Melfi, Matteo Riccardo Di Nicola, Gabriele Giacalone, Mario Lo Valvo
Publikováno v:
Acta Herpetologica, Vol 15, Iss 2 (2020)
Hemorrhois hippocrepis is a colubrid snake with a West Mediterranean distribution. It is widespread in the Iberian Peninsula and Northwest Africa. The only Italian populations are found on the islands of Sardinia and Pantelleria. The phylogenetic rel
Externí odkaz:
https://doaj.org/article/f7ed9d621b4548fa8660cc26c2564333
Autor:
Francesco Paolo Faraone, Gabriele Giacalone, Domenica Emanuela Canale, Stefania D'Angelo, Giorgio Favaccio, Vincenzo Garozzo, Giacoma Lidia Giancontieri, Carmelo Isgrò, Raffaella Melfi, Bruno Morello, Federica Navarria, Giuseppe Russo, Viviana Tinnirello, Antonio Torre, Daniele Torre, Giancarlo Torre, Giuseppe Urso, Pierluigi Vinci, Maria Grazia Zizzo, Federico Marrone
Publikováno v:
Biogeographia, Vol 32, Iss 1, Pp 25-29 (2017)
The first record of the red swamp crayfish in Sicily dates back to 2003 and, since then, the species seemed to be confined to a few localities in western Sicily. A small “citizen science” project carried out from November 2016 onwards led to the
Externí odkaz:
https://doaj.org/article/8c644864f65d45ffbf4b041b8fb2721b
Publikováno v:
Heliyon, Vol 5, Iss 6, Pp e01963- (2019)
The readthrough of nonsense mutations by small molecules like Ataluren is considered a novel therapeutic approach to overcome the gene defect in several genetic diseases as cystic fibrosis (CF). This pharmacological approach suppresses translation te
Externí odkaz:
https://doaj.org/article/2155e2d78ffc48e1b819bd302e0d337e