Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Rossella Borghi"'
Autor:
Valentina Muto, Federica Benigni, Valentina Magliocca, Rossella Borghi, Elisabetta Flex, Valentina Pallottini, Alessandro Rosa, Claudia Compagnucci, Marco Tartaglia
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 9, p 7988 (2023)
Induced pluripotent stem cells (iPSCs) have been established as a reliable in vitro disease model system and represent a particularly informative tool when animal models are not available or do not recapitulate the human pathophenotype. The recognize
Externí odkaz:
https://doaj.org/article/fb762f23f059434e908d9cca7182f588
Autor:
Rossella Borghi, Valentina Magliocca, Marina Trivisano, Nicola Specchio, Marco Tartaglia, Enrico Bertini, Claudia Compagnucci
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 7, p 3506 (2022)
PCDH19 clustering epilepsy (PCDH19-CE) is a genetic disease characterized by a heterogeneous phenotypic spectrum ranging from focal epilepsy with rare seizures and normal cognitive development to severe drug-resistant epilepsy associated with intelle
Externí odkaz:
https://doaj.org/article/f64846a9abca490aa94ff9a7feba8ec9
Autor:
Rossella Borghi, Valentina Magliocca, Stefania Petrini, Libenzio Adrian Conti, Sandra Moreno, Enrico Bertini, Marco Tartaglia, Claudia Compagnucci
Publikováno v:
Journal of Clinical Medicine, Vol 10, Iss 13, p 2754 (2021)
PCDH19-related epilepsy is a rare genetic disease caused by defective function of PCDH19, a calcium-dependent cell–cell adhesion protein of the cadherin superfamily. This disorder is characterized by a heterogeneous phenotypic spectrum, with partia
Externí odkaz:
https://doaj.org/article/7eefcd7224224aa890f5830cad5a1fc4
Autor:
Chiara Marioli, Valentina Magliocca, Stefania Petrini, Alessia Niceforo, Rossella Borghi, Sara Petrillo, Piergiorgio La Rosa, Fiorella Colasuonno, Tiziana Persichini, Fiorella Piemonte, Keith Massey, Marco Tartaglia, Sandra Moreno, Enrico Bertini, Claudia Compagnucci
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 19, p 7402 (2020)
Mitochondrial dysfunction is a key element in the pathogenesis of neurodegenerative disorders, such as riboflavin transporter deficiency (RTD). This is a rare, childhood-onset disease characterized by motoneuron degeneration and caused by mutations i
Externí odkaz:
https://doaj.org/article/f03c4de834ac423fb25db606ac6cedc3
Autor:
Elisabetta Flex, Shahad Albadri, Francesca Clementina Radio, Serena Cecchetti, Antonella Lauri, Manuela Priolo, Marta Kissopoulos, Giovanna Carpentieri, Giulia Fasano, Martina Venditti, Valentina Magliocca, Emanuele Bellacchio, Carrie L Welch, Paolo C Colombo, Stephanie M Kochav, Richard Chang, Rebekah Barrick, Marina Trivisano, Alessia Micalizzi, Rossella Borghi, Elena Messina, Cecilia Mancini, Simone Pizzi, Flavia De Santis, Marion Rosello, Nicola Specchio, Claudia Compagnucci, Kirsty McWalter, Wendy K Chung, Filippo Del Bene, Marco Tartaglia
Publikováno v:
Human Molecular Genetics. 32:473-488
Kinesins are motor proteins involved in microtubule (MT)-mediated intracellular transport. They contribute to key cellular processes, including intracellular trafficking, organelle dynamics and cell division. Pathogenic variants in kinesin-encoding g
Autor:
Valentina Magliocca, Enrico Bertini, Marco Tartaglia, Rossella Borghi, Stefania Petrini, Libenzio Adrian Conti, Sandra Moreno, Claudia Compagnucci
Publikováno v:
Journal of Clinical Medicine
Volume 10
Issue 13
Journal of Clinical Medicine, Vol 10, Iss 2754, p 2754 (2021)
Volume 10
Issue 13
Journal of Clinical Medicine, Vol 10, Iss 2754, p 2754 (2021)
PCDH19-related epilepsy is a rare genetic disease caused by defective function of PCDH19, a calcium-dependent cell–cell adhesion protein of the cadherin superfamily. This disorder is characterized by a heterogeneous phenotypic spectrum, with partia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46a5fbd3080e5708e520edf6d1905aec
https://hdl.handle.net/11590/402078
https://hdl.handle.net/11590/402078
Autor:
Zeinab Abbaszadeh, Claudia Compagnucci, Tiziana Franchin, Alessia Niceforo, Rossella Borghi, Enrico Bertini, Stefania Petrini, Valentina Magliocca
Publikováno v:
Oncotarget
The development of the nervous system requires cytoskeleton-mediated processes coordinating self-renewal, migration, and differentiation of neurons. It is not surprising that many neurodevelopmental problems and neurodegenerative disorders are caused
Autor:
Alessia Niceforo, Enrico Bertini, Andrea Di Giulio, Sandra Moreno, Fiorella Colasuonno, Claudia Compagnucci, Rossella Borghi, Maurizio Muzzi
Publikováno v:
Aging (Albany NY)
Induced pluripotent stem cells (iPSCs) hold great promise for developing personalized regenerative medicine, however characterization of their biological features is still incomplete. Moreover, changes occurring in long-term cultured iPSCs have been
Autor:
Antonio Novelli, Fabrizia Restaldi, Stefania Petrini, Rossella Borghi, Valentina D'Oria, Enrico Bertini, Sandra Moreno, Claudia Compagnucci
Publikováno v:
Aging (Albany NY)
Nuclear integrity and mechanical stability of the nuclear envelope (NE) are conferred by the nuclear lamina, a meshwork of intermediate filaments composed of A- and B-type lamins, supporting the inner nuclear membrane and playing a pivotal role in ch
Autor:
Enrico Bertini, Fiorella Piemonte, Alessia Niceforo, Stefania Petrini, Emanuela Piermarini, Claudia Compagnucci, Rossella Borghi, Antonella Sferra
Publikováno v:
Molecular and cellular neurosciences. 77
Patient-derived induced pluripotent stem cells (iPSCs) provide a novel tool to investigate the pathophysiology of poorly known diseases, in particular those affecting the nervous system, which has been difficult to study for its lack of accessibility