Zobrazeno 1 - 10
of 177
pro vyhledávání: '"Daniele Ghezzi"'
Autor:
Chiara Cavestro, Francesca Morra, Andrea Legati, Marco D'Amato, Alessia Nasca, Arcangela Iuso, Naomi Lubarr, Jennifer L. Morrison, Patricia G. Wheeler, Clara Serra‐Juhé, Benjamín Rodríguez‐Santiago, Eulalia Turón‐Viñas, Clement Prouteau, Magalie Barth, Susan J. Hayflick, Daniele Ghezzi, Valeria Tiranti, Ivano Di Meo
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1615-1629 (2024)
Abstract Objective COASY, the gene encoding the bifunctional enzyme CoA synthase, which catalyzes the last two reactions of cellular de novo coenzyme A (CoA) biosynthesis, has been linked to two exceedingly rare autosomal recessive disorders, such as
Externí odkaz:
https://doaj.org/article/57f4965baaa6402db85985dc9844f841
Autor:
Daniele Sala, Silvia Marchet, Lorenzo Nanetti, Andrea Legati, Caterina Mariotti, Eleonora Lamantea, Daniele Ghezzi, Alessia Catania, Costanza Lamperti
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background MT-ATP6 is a mitochondrial gene which encodes for the intramembrane subunit 6 (or A) of the mitochondrial ATP synthase, also known asl complex V, which is involved in the last step of oxidative phosphorylation to produce cellular
Externí odkaz:
https://doaj.org/article/482c0fe92b70470496f07304e8f01d82
Autor:
Daniele Ghezzi, Nicasio Tomás Jiménez-Morillo, Lisa Foschi, Eva Donini, Veronica Chiarini, Jo De Waele, Ana Zélia Miller, Martina Cappelletti
Publikováno v:
Environmental Microbiome, Vol 19, Iss 1, Pp 1-20 (2024)
Abstract Background Moonmilk represents complex secondary structures and model systems to investigate the interaction between microorganisms and carbonatic rocks. Grotta Nera is characterized by numerous moonmilk speleothems of exceptional size hangi
Externí odkaz:
https://doaj.org/article/e7c23946cd2c4c24b077f06b649ea001
Autor:
Daniele Ghezzi, Gabriela Graziani, Martina Cappelletti, Inna V. Fadeeva, Matteo Montesissa, Enrico Sassoni, Giorgia Borciani, Katia Barbaro, Marco Boi, Nicola Baldini, Julietta V. Rau
Publikováno v:
Frontiers in Bioengineering and Biotechnology, Vol 12 (2024)
Infections of implants and prostheses represent relevant complications associated with the implantation of biomedical devices in spine surgery. Indeed, due to the length of the surgical procedures and the need to implant invasive devices, infections
Externí odkaz:
https://doaj.org/article/d559e92f269d47379dab848a3c05b998
Autor:
Alberto A. Zambon, Daniele Ghezzi, Cristina Baldoli, Gianni Cutillo, Katia Fontana, Valentina Sofia, Maria Grazia Patricelli, Alessia Nasca, Stefano Vinci, Ivana Spiga, Eleonora Lamantea, Giovanna F. Fanelli, Maria Grazia Natali Sora, Rosanna Rovelli, Antonella Poloniato, Paola Carrera, Massimo Filippi, Graziano Barera
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 10, Pp 1844-1853 (2023)
Abstract Objectives Pathogenic variants in AIFM1 have been associated with a wide spectrum of disorders, spanning from CMT4X to mitochondrial encephalopathy. Here we present a novel phenotype and review the existing literature on AIFM1‐related diso
Externí odkaz:
https://doaj.org/article/439d872073f24f368bf348072bff3b08
Autor:
Beatrice Berti, Daniela Verrigni, Alessia Nasca, Michela Di Nottia, Daniela Leone, Alessandra Torraco, Teresa Rizza, Emanuele Bellacchio, Andrea Legati, Concetta Palermo, Silvia Marchet, Costanza Lamperti, Antonio Novelli, Eugenio Maria Mercuri, Enrico Silvio Bertini, Marika Pane, Daniele Ghezzi, Rosalba Carrozzo
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 14, p 7782 (2024)
Mitochondrial fission and fusion are vital dynamic processes for mitochondrial quality control and for the maintenance of cellular respiration; they also play an important role in the formation and maintenance of cells with high energy demand includi
Externí odkaz:
https://doaj.org/article/5190628685db48aa8bbaf2ef4eb12eab
Autor:
Daniele Ghezzi, Marco Boi, Enrico Sassoni, Francesco Valle, Elena Giusto, Elisa Boanini, Nicola Baldini, Martina Cappelletti, Gabriela Graziani
Publikováno v:
Journal of Biological Engineering, Vol 17, Iss 1, Pp 1-17 (2023)
Abstract Background Bacterial colonisation on implantable device surfaces is estimated to cause more than half of healthcare-associated infections. The application of inorganic coatings onto implantable devices limits/prevents microbial contamination
Externí odkaz:
https://doaj.org/article/1853f3eb76054dcf8b58e04af40f8a01
Autor:
Alessia Di Donfrancesco, Christian Berlingieri, Marta Giacomello, Chiara Frascarelli, Ana Paula Magalhaes Rebelo, Laurence A. Bindoff, Segel Reeval, Paul Renbaum, Filippo M. Santorelli, Giulia Massaro, Carlo Viscomi, Massimo Zeviani, Daniele Ghezzi, Emanuela Bottani, Dario Brunetti
Publikováno v:
Frontiers in Pharmacology, Vol 14 (2023)
Introduction: Biallelic variants in PITRM1 are associated with a slowly progressive syndrome characterized by intellectual disability, spinocerebellar ataxia, cognitive decline and psychosis. The pitrilysin metallopeptidase 1 (PITRM1) is a mitochondr
Externí odkaz:
https://doaj.org/article/a234703503564db9b218a1bf2199630d
Autor:
Chiara Frascarelli, Nadia Zanetti, Alessia Nasca, Rossella Izzo, Costanza Lamperti, Eleonora Lamantea, Andrea Legati, Daniele Ghezzi
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Primary mitochondrial diseases are progressive genetic disorders affecting multiple organs and characterized by mitochondrial dysfunction. These disorders can be caused by mutations in nuclear genes coding proteins with mitochondrial localization or
Externí odkaz:
https://doaj.org/article/645cff24ae9845b6bef447a0dcb744b8
Autor:
Vicente A. Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J. Hayflick, Maja Hempel, Yulia S. Itkis, Yoshihito Kishita, Thomas Klopstock, Tatiana D. Krylova, Costanza Lamperti, Dominic Lenz, Christine Makowski, Signe Mosegaard, Michaela F. Müller, Gerard Muñoz-Pujol, Agnieszka Nadel, Akira Ohtake, Yasushi Okazaki, Elena Procopio, Thomas Schwarzmayr, Joél Smet, Christian Staufner, Sarah L. Stenton, Tim M. Strom, Caterina Terrile, Frederic Tort, Rudy Van Coster, Arnaud Vanlander, Matias Wagner, Manting Xu, Fang Fang, Daniele Ghezzi, Johannes A. Mayr, Dorota Piekutowska-Abramczuk, Antonia Ribes, Agnès Rötig, Robert W. Taylor, Saskia B. Wortmann, Kei Murayama, Thomas Meitinger, Julien Gagneur, Holger Prokisch
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-26 (2022)
Abstract Background Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after whole genome or whole exome sequencing (WES). Research studi
Externí odkaz:
https://doaj.org/article/c84ca93f6ba94f7fa60fa360f03b6d83