Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Claudia Compagnucci"'
Autor:
Valentina Magliocca, Angela Lanciotti, Elena Ambrosini, Lorena Travaglini, Veronica D’Ezio, Valentina D’Oria, Stefania Petrini, Michela Catteruccia, Keith Massey, Marco Tartaglia, Enrico Bertini, Tiziana Persichini, Claudia Compagnucci
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 18 (2024)
IntroductionRiboflavin transporter deficiency type 2 (RTD2) is a rare neurodegenerative autosomal recessive disease caused by mutations in the SLC52A2 gene encoding the riboflavin transporters, RFVT2. Riboflavin (Rf) is the precursor of FAD (flavin a
Externí odkaz:
https://doaj.org/article/92b000ce458745bdb05cc0b0d313f8ab
Autor:
Chiara Marioli, Maurizio Muzzi, Fiorella Colasuonno, Cristian Fiorucci, Nicolò Cicolani, Stefania Petrini, Enrico Bertini, Marco Tartaglia, Claudia Compagnucci, Sandra Moreno
Publikováno v:
Cell Death Discovery, Vol 10, Iss 1, Pp 1-11 (2024)
Abstract Riboflavin Transporter Deficiency (RTD) is a rare genetic, childhood-onset disease. This pathology has a relevant neurological involvement, being characterized by motor symptoms, ponto-bulbar paralysis and sensorineural deafness. Such clinic
Externí odkaz:
https://doaj.org/article/6d8c37ea2c734d79beff524072e6467e
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
The variety in the display of animals’ cognition, emotions, and behaviors, typical of humans, has its roots within the anterior-most part of the brain: the forebrain, giving rise to the neocortex in mammals. Our understanding of cellular and molecu
Externí odkaz:
https://doaj.org/article/75a61f18c87a4393a2a6ad5fc0114b27
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
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 3, p 2781 (2023)
Microtubules (MTs) are dynamic components of the cell cytoskeleton involved in several cellular functions, such as structural support, migration and intracellular trafficking. Despite their high similarity, MTs have functional heterogeneity that is g
Externí odkaz:
https://doaj.org/article/4dd00a21a7a646b386e58f3e95dd781f
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Coordination of craniofacial development involves an complex, intricate, genetically controlled and tightly regulated spatiotemporal series of reciprocal inductive and responsive interactions among the embryonic cephalic epithelia (both endodermal an
Externí odkaz:
https://doaj.org/article/ce0b7c21a28741269ec9a5233ca00fd9
Autor:
Fiorella Colasuonno, Chiara Marioli, Marco Tartaglia, Enrico Bertini, Claudia Compagnucci, Sandra Moreno
Publikováno v:
Biomedicines, Vol 10, Iss 6, p 1329 (2022)
Riboflavin transporter deficiency (RTD) is a rare genetic disorder characterized by motor, sensory and cranial neuropathy. This childhood-onset neurodegenerative disease is caused by biallelic pathogenic variants in either SLC52A2 or SLC52A3 genes, r
Externí odkaz:
https://doaj.org/article/7ef0d9db747f40b58333926b553c78ea
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:
Alessia Niceforo, Chiara Marioli, Fiorella Colasuonno, Stefania Petrini, Keith Massey, Marco Tartaglia, Enrico Bertini, Sandra Moreno, Claudia Compagnucci
Publikováno v:
Disease Models & Mechanisms, Vol 14, Iss 2 (2021)
The cytoskeletal network plays a crucial role in the differentiation, morphogenesis, function and homeostasis of the nervous tissue, so that alterations in any of its components may lead to neurodegenerative diseases. Riboflavin transporter deficienc
Externí odkaz:
https://doaj.org/article/bbf8d0a77c624b3e90038a8e088864fb
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 24, p 13674 (2021)
To date, gene therapy has employed viral vectors to deliver therapeutic genes. However, recent progress in molecular and cell biology has revolutionized the field of stem cells and gene therapy. A few years ago, clinical trials started using stem cel
Externí odkaz:
https://doaj.org/article/11461a6b5f5b45eca71b9f46af8af15a