Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Stefania Beretta"'
Publikováno v:
IBRO Neuroscience Reports, Vol 15, Iss , Pp S447- (2023)
Externí odkaz:
https://doaj.org/article/bbdd93f666fb49bfb88e4973e1e89fce
Autor:
Stefania Beretta, Laura Gritti, Luisa Ponzoni, Paolo Scalmani, Massimo Mantegazza, Mariaelvina Sala, Chiara Verpelli, Carlo Sala
Publikováno v:
Molecular Autism, Vol 13, Iss 1, Pp 1-22 (2022)
Abstract Background Dravet Syndrome is a severe childhood pharmaco-resistant epileptic disorder mainly caused by mutations in the SCN1A gene, which encodes for the α1 subunit of the type I voltage-gated sodium channel (NaV1.1), that causes imbalance
Externí odkaz:
https://doaj.org/article/2d0036ea25774692aeaf9f3bcfa30cad
Autor:
Stefania Beretta, Kelly M. Cunningham, Daniel L. Haus, Eric M. Gold, Harvey Perez, Luci López-Velázquez, Brian J. Cummings
Publikováno v:
Cell Transplantation, Vol 26 (2017)
Traumatic brain injury (TBI) is one of the leading causes of death and disability in the population worldwide, with a broad spectrum of symptoms and disabilities. Posttraumatic hyperexcitability is one of the most common neurological disorders that a
Externí odkaz:
https://doaj.org/article/dda844fe5b544e0d94fae15628416cda
Autor:
Chiara Verpelli, Federica Giona, Stefania Beretta, Antonio Zippo, Cinzia Vicidomini, Luisa Ponzoni, Mariaelvina Sala, Carrie Jones, P. Conn, Tobias Böckers, Carlo Sala
Mutations or deletions in the SHANK3 gene have been identified in up to 1% of autism spectrum disorder cases and are considered the main cause of neuropsychiatric symptoms of Phelan McDermid syndrome (PMS). While in the absence of Shank3, synaptic dy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6c8e3ffc5ff99582ea436a5763a46723
https://doi.org/10.21203/rs.3.rs-2812308/v1
https://doi.org/10.21203/rs.3.rs-2812308/v1
Publikováno v:
Neuroscience. 445:42-49
Two major processes tightly regulate protein synthesis, the initiation of mRNA translation and elongation phase that mediates the movement of ribosomes along the mRNA. The elongation phase is a high energy-consuming process, and is mainly regulated b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c38ae28ac7f8f5203a6a2cdc30d8c24
https://doi.org/10.1016/j.neuroscience.2020.02.015
https://doi.org/10.1016/j.neuroscience.2020.02.015
Autor:
Débora Garrido, Stefania Beretta, Stefanie Grabrucker, Helen Friedericke Bauer, David Bayer, Carlo Sala, Chiara Verpelli, Francesco Roselli, Juergen Bockmann, Christian Proepper, Alberto Catanese, Tobias M. Boeckers
Publikováno v:
Molecular psychiatry 27(12), 4994-5006 (2022). doi:10.1038/s41380-022-01756-8
Members of the Shank protein family are master scaffolds of the postsynaptic architecture and mutations within the SHANK genes are causally associated with autism spectrum disorders (ASDs). We generated a Shank2-Shank3 double knockout mouse that is s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bdd439bd2ea247f1ff0ca2a0e2c6dcb
https://pub.dzne.de/record/165245
https://pub.dzne.de/record/165245
Autor:
Mariaelvina Sala, Cinzia Costa, Paolo Calabresi, Miriam Sciaccaluga, Chiara Verpelli, Carlo Sala, Jessica Pagano, Alessandro Tozzi, Elena Vezzoli, Stefania Beretta, Maura Francolini, Luisa Ponzoni, Tobias M. Boeckers, Adele Mossa
Publikováno v:
Molecular psychiatry 26(6), 1928-1944 (2021). doi:10.1038/s41380-020-00979-x
Mol Psychiatry
Mol Psychiatry
Human mutations and haploinsufficiency of the SHANK family genes are associated with autism spectrum disorders (ASD) and intellectual disability (ID). Complex phenotypes have been also described in all mouse models of Shank mutations and deletions, c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19ab1c712b201e195ea05a9c7f147ab1
http://hdl.handle.net/11391/1481162
http://hdl.handle.net/11391/1481162
Publikováno v:
Developmental Neurobiology.
Since the first observation that described a patient with a mutation in IL1RAPL1 gene associated with intellectual disability in 1999, the function of IL1RAPL1 has been extensively studied by a number of laboratories. In this review, we summarize all
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bba7047bc13f28a1828cf01c51df968
https://doi.org/10.1002/dneu.22657
https://doi.org/10.1002/dneu.22657
Autor:
Kelly M. Cunningham, Luci López-Velázquez, Daniel L. Haus, Eric M. Gold, Stefania Beretta, Harvey Perez, Brian J. Cummings
Publikováno v:
Beretta, S; Cunningham, KM; Haus, DL; Gold, EM; Perez, H; Lopez-Velazquez, L; et al.(2017). Effects of Human ES-Derived Neural Stem Cell Transplantation and Kindling in a Rat Model of Traumatic Brain Injury. CELL TRANSPLANTATION, 26(7), 1247-1261. doi: 10.1177/0963689717714107. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/16n2434w
Beretta, S; Cunningham, K; Haus, D; Gold, E; Perez, H; López-Velázquez, L; et al.(2016). Effects of Human ES-Derived Neural Stem Cell Transplantation and Kindling in a Rat Model of Traumatic Brain Injury.. Cell transplantation. doi: 10.3727/096368916x693815. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/2g88j187
Cell Transplantation, Vol 26 (2017)
Cell Transplantation
Beretta, S; Cunningham, K; Haus, D; Gold, E; Perez, H; López-Velázquez, L; et al.(2016). Effects of Human ES-Derived Neural Stem Cell Transplantation and Kindling in a Rat Model of Traumatic Brain Injury.. Cell transplantation. doi: 10.3727/096368916x693815. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/2g88j187
Cell Transplantation, Vol 26 (2017)
Cell Transplantation
Traumatic brain injury (TBI) is one of the leading causes of death and disability in the population worldwide, with a broad spectrum of symptoms and disabilities. Posttraumatic hyperexcitability is one of the most common neurological disorders that a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1252e75f4aa9d6463a549ab417c2edd2
http://www.escholarship.org/uc/item/16n2434w
http://www.escholarship.org/uc/item/16n2434w