Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Rudy Celeghin"'
Autor:
Raquel Brañas Casas, Alessandro Zuppardo, Giovanni Risato, Alberto Dinarello, Rudy Celeghin, Camilla Fontana, Eleonora Grelloni, Alexandru Ionut Gilea, Carlo Viscomi, Andrea Rasola, Luisa Dalla Valle, Tiziana Lodi, Enrico Baruffini, Nicola Facchinello, Francesco Argenton, Natascia Tiso
Publikováno v:
Cell Death and Disease, Vol 15, Iss 4, Pp 1-12 (2024)
Abstract The human mitochondrial DNA polymerase gamma is a holoenzyme, involved in mitochondrial DNA (mtDNA) replication and maintenance, composed of a catalytic subunit (POLG) and a dimeric accessory subunit (POLG2) conferring processivity. Mutation
Externí odkaz:
https://doaj.org/article/58a56ab3a25547089b9f2b151454fd8b
Autor:
Rudy Celeghin, Giovanni Risato, Giorgia Beffagna, Marco Cason, Maria Bueno Marinas, Mila Della Barbera, Nicola Facchinello, Alice Giuliodori, Raquel Brañas Casas, Micol Caichiolo, Andrea Vettori, Enrico Grisan, Stefania Rizzo, Luisa Dalla Valle, Francesco Argenton, Gaetano Thiene, Natascia Tiso, Kalliopi Pilichou, Cristina Basso
Publikováno v:
Cell Death Discovery, Vol 9, Iss 1, Pp 1-14 (2023)
Abstract Arrhythmogenic cardiomyopathy (AC) is an inherited disorder characterized by progressive loss of the ventricular myocardium causing life-threatening ventricular arrhythmias, syncope and sudden cardiac death in young and athletes. About 40% o
Externí odkaz:
https://doaj.org/article/19472e78aa4e4bbcaaac30f07520d4e5
Autor:
Giovanni Risato, Raquel Brañas Casas, Marco Cason, Maria Bueno Marinas, Serena Pinci, Monica De Gaspari, Silvia Visentin, Stefania Rizzo, Gaetano Thiene, Cristina Basso, Kalliopi Pilichou, Natascia Tiso, Rudy Celeghin
Publikováno v:
Cells, Vol 13, Iss 15, p 1264 (2024)
Arrhythmogenic cardiomyopathy (AC) is a hereditary cardiac disorder characterized by the gradual replacement of cardiomyocytes with fibrous and adipose tissue, leading to ventricular wall thinning, chamber dilation, arrhythmias, and sudden cardiac de
Externí odkaz:
https://doaj.org/article/ee3cf922c2ed4a989dfe6e3be29f26d0
Autor:
Maria Bueno Marinas, Marco Cason, Riccardo Bariani, Rudy Celeghin, Monica De Gaspari, Serena Pinci, Alberto Cipriani, Ilaria Rigato, Alessandro Zorzi, Stefania Rizzo, Gaetano Thiene, Martina Perazzolo Marra, Domenico Corrado, Cristina Basso, Barbara Bauce, Kalliopi Pilichou
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 11, p 6267 (2024)
Arrhythmogenic cardiomyopathy (ACM) is an inherited myocardial disease at risk of sudden death. Genetic testing impacts greatly in ACM diagnosis, but gene-disease associations have yet to be determined for the increasing number of genes included in c
Externí odkaz:
https://doaj.org/article/badb83bf459843c59f337e7750b124c3
Autor:
Giovanni Risato, Rudy Celeghin, Raquel Brañas Casas, Alberto Dinarello, Alessandro Zuppardo, Andrea Vettori, Kalliopi Pilichou, Gaetano Thiene, Cristina Basso, Francesco Argenton, Silvia Visentin, Erich Cosmi, Natascia Tiso, Giorgia Beffagna
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Foetal Growth Restriction (FGR), previously known as Intrauterine Growth Restriction (IUGR), is an obstetrical condition due to placental insufficiency, affecting yearly about 30 million newborns worldwide. In this work, we aimed to identify and phar
Externí odkaz:
https://doaj.org/article/572cf07567404dd6bb3376e54cd51399
Autor:
Nicola Facchinello, Claudio Laquatra, Lisa Locatello, Giorgia Beffagna, Raquel Brañas Casas, Chiara Fornetto, Alberto Dinarello, Laura Martorano, Andrea Vettori, Giovanni Risato, Rudy Celeghin, Giacomo Meneghetti, Massimo Mattia Santoro, Agnes Delahodde, Francesco Vanzi, Andrea Rasola, Luisa Dalla Valle, Maria Berica Rasotto, Tiziana Lodi, Enrico Baruffini, Francesco Argenton, Natascia Tiso
Publikováno v:
Cell Death and Disease, Vol 12, Iss 1, Pp 1-18 (2021)
Abstract The DNA polymerase gamma (Polg) is a nuclear-encoded enzyme involved in DNA replication in animal mitochondria. In humans, mutations in the POLG gene underlie a set of mitochondrial diseases characterized by mitochondrial DNA (mtDNA) depleti
Externí odkaz:
https://doaj.org/article/e5b4a8a5e87b4483a23748afb74ea087
Autor:
Riccardo Bariani, Ilaria Rigato, Alberto Cipriani, Maria Bueno Marinas, Rudy Celeghin, Cristina Basso, Domenico Corrado, Kalliopi Pilichou, Barbara Bauce
Publikováno v:
Biomolecules, Vol 12, Iss 9, p 1324 (2022)
Arrhythmogenic cardiomyopathy (ACM) is a genetically determined myocardial disease, characterized by myocytes necrosis with fibrofatty substitution and ventricular arrhythmias that can even lead to sudden cardiac death. The presence of inflammatory c
Externí odkaz:
https://doaj.org/article/5d5a684bce2b41ee92caa644f1b4aafe
Publikováno v:
Italian Journal of Medicine, Vol 13, Iss 3 (2019)
Cardiovascular diseases (CVDs) are a wide group of disorders affecting the heart and blood vessels, including coronary artery, valve, pericardial, conduction system, myocardial and vascular diseases, either congenital or acquired, which can be also h
Externí odkaz:
https://doaj.org/article/b85c7f8df8224a5fafa9868e8442b686
Autor:
Maria Bueno Marinas, Rudy Celeghin, Marco Cason, Gaetano Thiene, Cristina Basso, Kalliopi Pilichou
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 17, p 6434 (2020)
Arrhythmogenic cardiomyopathy (AC) is an inherited cardiac disease characterized by a progressive fibro-fatty replacement of the working myocardium and by life-threatening arrhythmias and risk of sudden cardiac death. Pathogenic variants are identifi
Externí odkaz:
https://doaj.org/article/5d7e74ad86c744f8bfbcb8ced7492547
Autor:
Maria Bueno Marinas, Rudy Celeghin, Marco Cason, Riccardo Bariani, Anna Chiara Frigo, Joanna Jager, Petros Syrris, Perry M. Elliott, Barbara Bauce, Gaetano Thiene, Domenico Corrado, Cristina Basso, Kalliopi Pilichou
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 4, p 1536 (2020)
Arrhythmogenic Cardiomyopathy (AC) is a clinically and genetically heterogeneous myocardial disease. Half of AC patients harbour private desmosomal gene variants. Although microRNAs (miRNAs) have emerged as key regulator molecules in cardiovascular d
Externí odkaz:
https://doaj.org/article/69df482ccaec40399330dbf27ea747c9