Zobrazeno 1 - 10
of 163
pro vyhledávání: '"Emanuele BELLACCHIO"'
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:
Riccardo Zocchi, Emanuele Bellacchio, Michela Piccione, Raffaella Scardigli, Valentina D’Oria, Stefania Petrini, Kristin Baranano, Enrico Bertini, Antonella Sferra
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 17 (2023)
Microtubules are dynamic cytoskeletal structures involved in several cellular functions, such as intracellular trafficking, cell division and motility. More than other cell types, neurons rely on the proper functioning of microtubules to conduct thei
Externí odkaz:
https://doaj.org/article/591cc8724f4841c9a94d6fbb5ca85191
Autor:
Annamaria Cudini, Caterina Nardella, Emanuele Bellacchio, Alessia Palma, Domenico Vittorio Delfino, Corrado Betterle, Marco Cappa, Alessandra Fierabracci
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 5, p 2656 (2024)
Autoimmune polyglandular syndromes (APS) are classified into four main categories, APS1–APS4. APS1 is caused by AIRE gene loss of function mutations, while the genetic background of the other APS remains to be clarified. Here, we investigated the p
Externí odkaz:
https://doaj.org/article/e5230205ef344924bc2bf0a4e777f3e6
Autor:
Emanuele Bellacchio
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 1, p 552 (2023)
Curcumin, a major constituent of turmeric (Curcuma longa L.), has beneficial effects against several diseases. In cystic fibrosis (CF), this compound improves patients’ symptoms by recovering the activity of a number of mutants of the cystic fibros
Externí odkaz:
https://doaj.org/article/7586a292b8e44149a3625388a64108c8
Autor:
Parith Wongkittichote, Laura Duque Lasio, Martina Magistrati, Sheel Pathak, Brooke Sample, Daniel Carvalho, Adrianna Banzzatto Ortega, Claudio de Gusmao, Matheus Castro, Tomi Toler, Emanuele Bellacchio, Cristina Dallabona, Marwan Shinawi
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100388- (2023)
Externí odkaz:
https://doaj.org/article/83ed346d99624bc78f0efca86c900de8
Autor:
Gerarda Mastrogiorgio, Marina Macchiaiolo, Paola Sabrina Buonuomo, Emanuele Bellacchio, Matteo Bordi, Davide Vecchio, Kari Payne Brown, Natalie Karen Watson, Benedetta Contardi, Francesco Cecconi, Marco Tartaglia, Andrea Bartuli
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Adenylosuccinate lyase deficiency (ADSLD) is an ultrarare neurometabolic recessive disorder caused by loss-of-function mutations in the ADSL gene. The disease is characterized by wide clinical variability. Here we provide an updat
Externí odkaz:
https://doaj.org/article/6f3e197046184bc182934ab966600958
Autor:
Francesco Callea, Paola Francalanci, Chiara Grimaldi, Francesca Diomedi Camassei, Rita Devito, Fabio Facchetti, Rita Alaggio, Emanuele Bellacchio
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 17, p 9996 (2022)
Seventeen out of 764 liver biopsies from transplanted (Tx) livers in children showed glycogen-ground glass (GGG) hepatocytic inclusions. The inclusions were not present in pre-Tx or in the explanted or donor’s liver. Under the electron microscope (
Externí odkaz:
https://doaj.org/article/03fe5de821804365b49b41f44a3d4e11
Autor:
Nadia Panera, Marica Meroni, Miriam Longo, Annalisa Crudele, Luca Valenti, Emanuele Bellacchio, Luca Miele, Valentina D'Oria, Erika Paolini, Marco Maggioni, Anna Ludovica Fracanzani, Anna Alisi, Paola Dongiovanni
Publikováno v:
EBioMedicine, Vol 65, Iss , Pp 103249- (2021)
Background: The rs17618244 G>A β-Klotho (KLB) variant has been associated with increased risk of ballooning and inflammation in pediatric patients with metabolic associated fatty liver disease (MAFLD), by reducing KLB expression. In hepatocytes, KLB
Externí odkaz:
https://doaj.org/article/d1a935edba384368b2b355957196a217
Autor:
Emanuele Bellacchio
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 9, p 4794 (2022)
The localization and activity of the SHP2 tyrosine phosphatase across different cellular compartments to the target substrates are steered by the binding of phosphotyrosine (pY) peptides to the tandem SH2 domains. The most N-terminal domain (N-SH2) c
Externí odkaz:
https://doaj.org/article/09f41a5ed11a46749d64e12c3e96a1d1
Autor:
Marina Macchiaiolo, Paola Sabrina Buonuomo, Gerarda Mastrogiorgio, Matteo Bordi, Beatrice Testa, Gerrit Weber, Emanuele Bellacchio, Marco Tartaglia, Francesco Cecconi, Andrea Bartuli
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)
Adenylosuccinate lyase deficiency is a rare neurometabolic recessive disorder of purine metabolism characterized by a wide range of clinical manifestations.We present a very mild phenotype of two siblings characterized by mild isolated cognitive disa
Externí odkaz:
https://doaj.org/article/3d794aceebe3437b9b34c5dab1234c95