Zobrazeno 1 - 10
of 194
pro vyhledávání: '"Joussef Hayek"'
Autor:
Silvia Leoncini, Cinzia Signorini, Lidia Boasiako, Valeria Scandurra, Joussef Hayek, Lucia Ciccoli, Marcello Rossi, Roberto Canitano, Claudio De Felice
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
BackgroundBreathing abnormalities are common in Rett syndrome (RTT), a pervasive neurodevelopmental disorder almost exclusively affecting females. RTT is linked to mutations in the methyl-CpG-binding protein 2 (MeCP2) gene. Our aim was to assess the
Externí odkaz:
https://doaj.org/article/fd2e5538d6c6424f90cd1436eea23b25
Autor:
Javier Flores Gutiérrez, Claudio De Felice, Giulia Natali, Silvia Leoncini, Cinzia Signorini, Joussef Hayek, Enrico Tongiorgi
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 12, Iss 1, Pp 1-20 (2020)
Abstract Background Rett syndrome (RTT), an X-linked neurodevelopmental rare disease mainly caused by MECP2-gene mutations, is a prototypic intellectual disability disorder. Reversibility of RTT-like phenotypes in an adult mouse model lacking the Mec
Externí odkaz:
https://doaj.org/article/e9c206f504bc44938e584a685ba6c052
Autor:
Carla Caffarelli, Stefano Gonnelli, Maria Dea Tomai Pitinca, Silvia Camarri, Antonella Al Refaie, Joussef Hayek, Ranuccio Nuti
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-9 (2020)
Abstract Background More than 95% of individuals with RTT have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. The disorder is caused by mutations in a single gene and the disease severity in aff
Externí odkaz:
https://doaj.org/article/cdf8a6a8c88d4526a73c4df2b7849ed7
Autor:
Cinzia Signorini, Claudio De Felice, Thierry Durand, Jean-Marie Galano, Camille Oger, Silvia Leoncini, Joussef Hayek, Jetty Chung-Yung Lee, Troy C. Lund, Paul J. Orchard
Publikováno v:
Life, Vol 12, Iss 2, p 146 (2022)
Cerebral adrenoleukodystrophy (ALD) is a rare neuroinflammatory disorder characterized by progressive demyelination. Mutations within the ABCD1 gene result in very long-chain fatty acid (VLCFA) accumulation within the peroxisome, particularly in the
Externí odkaz:
https://doaj.org/article/bc865557751049409a39ae36f35da006
Autor:
Alessandra Pecorelli, Valeria Cordone, Nicolò Messano, Changqing Zhang, Stefano Falone, Fernanda Amicarelli, Joussef Hayek, Giuseppe Valacchi
Publikováno v:
Redox Biology, Vol 28, Iss , Pp - (2020)
Rett syndrome (RTT) is a progressive neurodevelopmental disorder mainly caused by mutations in the X-linked MECP2 gene. RTT patients show multisystem disturbances associated with an oxinflammatory status. Inflammasomes are multi-protein complexes, re
Externí odkaz:
https://doaj.org/article/3b1008eb47a04df2861374587c336f1f
Autor:
Feliciana Real-Fernández, Giulia Pacini, Francesca Nuti, Giulia Conciarelli, Claudio De Felice, Joussef Hayek, Paolo Rovero, Anna Maria Papini
Publikováno v:
Substantia, Vol 3, Iss 2 (2019)
Antibodies against myelin oligodendrocyte glycoprotein (MOG) are associated to several disorders, and their occurrence in patients presenting an acquired demyelinating disease affects a higher proportion of paediatric subjects, as compared to adults.
Externí odkaz:
https://doaj.org/article/31dcf2a04a024c8d9d751abfd049ea96
Autor:
Francesco Strati, Antonio Calabrò, Claudio Donati, Claudio De Felice, Joussef Hayek, Olivier Jousson, Silvia Leoncini, Daniela Renzi, Lisa Rizzetto, Carlotta De Filippo, Duccio Cavalieri
Publikováno v:
BMC Gastroenterology, Vol 18, Iss 1, Pp 1-9 (2018)
Abstract Background Rett syndrome (RTT) is a neurological disorder mainly caused by mutations in MeCP2 gene. It has been shown that MeCP2 impairments can lead to cytokine dysregulation due to MeCP2 regulatory role in T-helper and T-reg mediated respo
Externí odkaz:
https://doaj.org/article/bce5f58ed04040c1aea9a006d5049e86
Autor:
Diego Sbardella, Grazia Raffaella Tundo, Luisa Campagnolo, Giuseppe Valacchi, Augusto Orlandi, Paolo Curatolo, Giovanna Borsellino, Maurizio D’Esposito, Chiara Ciaccio, Silvia Di Cesare, Donato Di Pierro, Cinzia Galasso, Marta Elena Santarone, Joussef Hayek, Massimiliano Coletta, Stefano Marini
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-1 (2021)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/ca4a5efff3834f5aae38c88c3d351b02
Autor:
Alessandra Pecorelli, Valeria Cordone, Maria Lucia Schiavone, Carla Caffarelli, Carlo Cervellati, Gaetana Cerbone, Stefano Gonnelli, Joussef Hayek, Giuseppe Valacchi
Publikováno v:
Life, Vol 11, Iss 6, p 521 (2021)
Rett syndrome (RTT) is a monogenic neurodevelopmental disorder primarily caused by mutations in X-linked MECP2 gene, encoding for methyl-CpG binding protein 2 (MeCP2), a multifaceted modulator of gene expression and chromatin organization. Based on t
Externí odkaz:
https://doaj.org/article/3dc2f2587c8a489e904660c7fb833bb3
Autor:
Cinzia Signorini, Silvia Leoncini, Thierry Durand, Jean-Marie Galano, Alexandre Guy, Valérie Bultel-Poncé, Camille Oger, Jetty Chung-Yung Lee, Lucia Ciccoli, Joussef Hayek, Claudio De Felice
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 8, p 4240 (2021)
Neuroprostanes, a family of non-enzymatic metabolites of the docosahexaenoic acid, have been suggested as potential biomarkers for neurological diseases. Objective biological markers are strongly needed in Rett syndrome (RTT), which is a progressive
Externí odkaz:
https://doaj.org/article/42f9fbca88304d4cb28720560726d260