Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Laura Napoli"'
Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition
Autor:
Daniela Piga, Martina Rimoldi, Francesca Magri, Simona Zanotti, Laura Napoli, Michela Ripolone, Serena Pagliarani, Patrizia Ciscato, Daniele Velardo, Adele D’Amico, Enrico Bertini, Giacomo Pietro Comi, Dario Ronchi, Stefania Corti
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundCongenital myopathies are a group of heterogeneous inherited disorders, mainly characterized by early-onset hypotonia and muscle weakness. The spectrum of clinical phenotype can be highly variable, going from very mild to severe presentatio
Externí odkaz:
https://doaj.org/article/8fb71253fe8941deace9208bc912160a
Autor:
Miriam Mistretta, Veronica Fiorito, Anna Lucia Allocco, Giorgia Ammirata, Myriam Y. Hsu, Sabrina Digiovanni, Marzia Belicchi, Laura Napoli, Michela Ripolone, Elena Trombetta, PierLuigi Mauri, Andrea Farini, Mirella Meregalli, Chiara Villa, Paolo Ettore Porporato, Barbara Miniscalco, Simonetta Geninatti Crich, Chiara Riganti, Yvan Torrente, Emanuela Tolosano
Publikováno v:
Cell Reports, Vol 43, Iss 3, Pp 113854- (2024)
Summary: The definition of cell metabolic profile is essential to ensure skeletal muscle fiber heterogeneity and to achieve a proper equilibrium between the self-renewal and commitment of satellite stem cells. Heme sustains several biological functio
Externí odkaz:
https://doaj.org/article/50dee958b32b4bd7afe013a87f52d7b3
Autor:
Francesca Magri, Sara Antognozzi, Michela Ripolone, Simona Zanotti, Laura Napoli, Patrizia Ciscato, Daniele Velardo, Giulietta Scuvera, Valeria Nicotra, Antonella Giacobbe, Donatella Milani, Francesco Fortunato, Manuela Garbellini, Monica Sciacco, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi
Publikováno v:
Skeletal Muscle, Vol 12, Iss 1, Pp 1-9 (2022)
Abstract Background Choline kinase beta (CHKB) catalyzes the first step in the de novo biosynthesis of phosphatidyl choline and phosphatidylethanolamine via the Kennedy pathway. Derangement of this pathway might also influence the homeostasis of mito
Externí odkaz:
https://doaj.org/article/09db868ddfdf4d55970f761e53d08dd4
Autor:
Carola Rita Ferrari Aggradi, Martina Rimoldi, Gloria Romagnoli, Daniele Velardo, Megi Meneri, Davide Iacobucci, Michela Ripolone, Laura Napoli, Patrizia Ciscato, Maurizio Moggio, Giacomo Pietro Comi, Dario Ronchi, Stefania Corti, Elena Abati
Publikováno v:
Brain Sciences, Vol 13, Iss 12, p 1679 (2023)
Lafora disease is a rare genetic disorder characterized by a disruption in glycogen metabolism. It manifests as progressive myoclonus epilepsy and cognitive decline during adolescence. Pathognomonic is the presence of abnormal glycogen aggregates tha
Externí odkaz:
https://doaj.org/article/68c1b83916084c99b57a60b1106e2e4c
Autor:
Elena Abati, Arianna Manini, Daniele Velardo, Roberto Del Bo, Laura Napoli, Federica Rizzo, Maurizio Moggio, Nereo Bresolin, Emilia Bellone, Maria Teresa Bassi, Maria Grazia D’Angelo, Giacomo Pietro Comi, Stefania Corti
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)
Abstract Charcot–Marie–Tooth disease type 2A (CMT2A) is a rare inherited axonal neuropathy caused by mutations in MFN2 gene, which encodes Mitofusin 2, a transmembrane protein of the outer mitochondrial membrane. We performed a cross-sectional an
Externí odkaz:
https://doaj.org/article/e84dd966ef6444348de3a316c50d7def
Autor:
Marica Meroni, Miriam Longo, Erika Paolini, Giada Tria, Michela Ripolone, Laura Napoli, Maurizio Moggio, Anna Ludovica Fracanzani, Paola Dongiovanni
Publikováno v:
Frontiers in Nutrition, Vol 9 (2022)
Background and aimsHypertriglyceridemia is a common feature of metabolic syndrome (MetS), as well as of non-alcoholic fatty liver disease (NAFLD), which is considered the hepatic manifestation of MetS. Fat accumulation in hepatocytes may alter mitoch
Externí odkaz:
https://doaj.org/article/421ec3099c324187b2fbfcad79303c4a
Autor:
Daniele Velardo, Maria Grazia D'Angelo, Andrea Citterio, Elena Panzeri, Laura Napoli, Claudia Cinnante, Maurizio Moggio, Giacomo Pietro Comi, Dario Ronchi, Maria Teresa Bassi
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Filamin C is a large dimeric actin-binding protein, most prevalent in skeletal and cardiac muscle Z-discs, where it participates in sarcomere mechanical stabilization and intracellular signaling, interacting with numerous binding partners. Dominant h
Externí odkaz:
https://doaj.org/article/4218c73b2bb04332b9741ddf8f4eeb8d
Autor:
Simona Zanotti, Michela Ripolone, Laura Napoli, Daniele Velardo, Sabrina Salani, Patrizia Ciscato, Silvia Priori, Deni Kukavica, Andrea Mazzanti, Luca Diamanti, Elisa Vegezzi, Maurizio Moggio, Stefania Corti, Giacomo Comi, Monica Sciacco
Publikováno v:
Cells, Vol 12, Iss 10, p 1405 (2023)
Phospholamban is involved in the regulation of the activity and storage of calcium in cardiac muscle. Several mutations have been identified in the PLN gene causing cardiac disease associated with arrhythmogenic and dilated cardiomyopathy. The patho-
Externí odkaz:
https://doaj.org/article/397496b545584b0a8b6b636d79b659f7
Autor:
Giuseppe Carruba, Maria Luisa Calagna, Ildegarda Campisi, Stella Cutrera, Laura Napoli, Giovanni Pitti, Valentina Palmisano, Giuseppina Savio, Antonella Usset, Vita Leonardi, Angela Di Pasquale, Salvatore Requirez, Livio Blasi
Publikováno v:
Diseases, Vol 10, Iss 3, p 47 (2022)
This paper presents a multi-professional integrated approach toward the recognition and management of the nutritional and psychological needs of cancer patients. In particular, the patients undertook a multi-professional, multistep process that inclu
Externí odkaz:
https://doaj.org/article/03d5db1e69764c89878932cc83e6c2c9
Autor:
Sara Gibertini, Alessandra Ruggieri, Simona Saredi, Franco Salerno, Flavia Blasevich, Laura Napoli, Maurizio Moggio, Vincenzo Nigro, Lucia Morandi, Lorenzo Maggi, Marina Mora
Publikováno v:
Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-6 (2018)
Externí odkaz:
https://doaj.org/article/d2b567bce88a450680b8f2ad94679ebc