Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Federico Marracino"'
Autor:
Giuseppe Pepe, Salvatore Fioriniello, Federico Marracino, Luca Capocci, Vittorio Maglione, Maurizio D’Esposito, Alba Di Pardo, Floriana Della Ragione
Publikováno v:
Biomolecules, Vol 13, Iss 4, p 606 (2023)
Rett syndrome (RTT, online MIM 312750) is a devastating neurodevelopmental disorder characterized by motor and cognitive disabilities. It is mainly caused by pathogenetic variants in the X-linked MECP2 gene, encoding an epigenetic factor crucial for
Externí odkaz:
https://doaj.org/article/f8b13bb92ed44651b12c02824c1dd910
Autor:
Giuseppe Pepe, Paola Lenzi, Luca Capocci, Federico Marracino, Ludovica Pizzati, Pamela Scarselli, Alba Di Pardo, Francesco Fornai, Vittorio Maglione
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 6, p 5956 (2023)
Huntington’s disease is one of the most common dominantly inherited neurodegenerative disorders caused by an expansion of a polyglutamine (polyQ) stretch in the N-terminal region of huntingtin (Htt). Among all the molecular mechanisms, affected by
Externí odkaz:
https://doaj.org/article/7662e0065e72414aae69dee8d642b03b
Autor:
Johannes Burtscher, Giuseppe Pepe, Federico Marracino, Luca Capocci, Susy Giova, Grégoire P. Millet, Alba Di Pardo, Vittorio Maglione
Publikováno v:
Brain Sciences, Vol 11, Iss 10, p 1267 (2021)
Huntington’s disease (HD) is a rare hereditary neurodegenerative disorder characterized by multiple metabolic dysfunctions including defects in mitochondrial homeostasis and functions. Although we have recently reported age-related changes in the r
Externí odkaz:
https://doaj.org/article/a92bf5238b7f488aabdd4a42fc35ec97
Autor:
Giuseppe Pepe, Maria Cotugno, Federico Marracino, Susy Giova, Luca Capocci, Maurizio Forte, Rosita Stanzione, Franca Bianchi, Simona Marchitti, Alba Di Pardo, Sebastiano Sciarretta, Speranza Rubattu, Vittorio Maglione
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 7, p 3796 (2021)
Alterations in the metabolism of sphingolipids, a class of biologically active molecules in cell membranes with direct effect on vascular homeostasis, are increasingly recognized as important determinant in different vascular disorders. However, it i
Externí odkaz:
https://doaj.org/article/ef7efd6d57fd415587b7f5f7a0ae1130
Autor:
Alba Di Pardo, Giuseppe Pepe, Salvatore Castaldo, Federico Marracino, Luca Capocci, Enrico Amico, Michele Madonna, Susy Giova, Se Kyoo Jeong, Bu-Mahn Park, Byeong Deog Park, Vittorio Maglione
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 12 (2019)
Although several agents have been identified to provide therapeutic benefits in Huntington disease (HD), the number of conventionally used treatments remains limited and only symptomatic. Thus, it is plausible that the need to identify new therapeuti
Externí odkaz:
https://doaj.org/article/910e1a0379c0463d96e94853e7357092
Autor:
Alba Di Pardo, Abdul Basit, Andrea Armirotti, Enrico Amico, Salvatore Castaldo, Giuseppe Pepe, Federico Marracino, Fabio Buttari, Anna F. Digilio, Vittorio Maglione
Publikováno v:
Frontiers in Neuroscience, Vol 11 (2017)
Alterations of lipid metabolism have been frequently associated with Huntington's disease (HD) over the past years. HD is the most common neurodegenerative disorder, with a complex pathogenic profile, typically characterized by progressive striatal a
Externí odkaz:
https://doaj.org/article/dfe641cabe074cf499a0e9ad913ebdd0
Autor:
Claudio De Felice, Floriana Della Ragione, Cinzia Signorini, Silvia Leoncini, Alessandra Pecorelli, Lucia Ciccoli, Francesco Scalabrì, Federico Marracino, Michele Madonna, Giuseppe Belmonte, Laura Ricceri, Bianca De Filippis, Giovanni Laviola, Giuseppe Valacchi, Thierry Durand, Jean-Marie Galano, Camille Oger, Alexandre Guy, Valérie Bultel-Poncé, Jacky Guy, Stefania Filosa, Joussef Hayek, Maurizio D'Esposito
Publikováno v:
Neurobiology of Disease, Vol 68, Iss , Pp 66-77 (2014)
Rett syndrome (RTT) is a rare neurodevelopmental disorder affecting almost exclusively females, caused in the overwhelming majority of the cases by loss-of-function mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). High circulating
Externí odkaz:
https://doaj.org/article/f05bc40df8d64a928adb14bd5f3ac97e
Autor:
Giuseppe Pepe, Luca Capocci, Federico Marracino, Natalia Realini, Paola Lenzi, Katiuscia Martinello, Tiziana Francesca Bovier, Terry Jo Bichell, Pamela Scarselli, Clotilde Di Cicco, Aaron B. Bowman, Filomena A. Digilio, Sergio Fucile, Francesco Fornai, Andrea Armirotti, Rosanna Parlato, Alba Di Pardo, Vittorio Maglione
Publikováno v:
Molecular Therapy. 31:282-299
Huntington's disease (HD) is a fatal neurodegenerative disorder with no effective cure currently available. Over the past few years our research has shown that alterations in sphingolipid metabolism represent a critical determinant in HD pathogenesis
Autor:
Giuseppe Pepe, Luca Capocci, Federico Marracino, Natalia Realini, Pamela Scarselli, Clotilde Di Cicco, Andrea Armirotti, Rosanna Parlato, Alba Di Pardo, Vittorio Maglione
Publikováno v:
I: Experimental therapeutics – preclinical.
Autor:
Giuseppe Pepe, Luca Capocci, Federico Marracino, Sam J Moons, Aynur Sönmez, Karolina Świtońska-Kurkowska, Pamela Scarselli, Clotilde Di Cicco, Maciej Figiel, Thomas J Boltje, Rosanna Parlato, Alba Di Pardo, Vittorio Maglione
Publikováno v:
I: Experimental therapeutics – preclinical.