Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Silvia Fortuni"'
Autor:
Riccardo Luffarelli, Luca Panarello, Andrea Quatrana, Francesca Tiano, Silvia Fortuni, Alessandra Rufini, Florence Malisan, Roberto Testi, Ivano Condò
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 16, p 12687 (2023)
Friedreich’s ataxia (FRDA) is a rare monogenic disease characterized by multisystem, slowly progressive degeneration. Because of the genetic defect in a non-coding region of FXN gene, FRDA cells exhibit severe deficit of frataxin protein levels. He
Externí odkaz:
https://doaj.org/article/6af5911f8f3a43c793988cecd58d4265
Autor:
Domenico Vignone, Odalys Gonzalez Paz, Ivan Fini, Antonella Cellucci, Giulio Auciello, Maria Rosaria Battista, Isabelle Gloaguen, Silvia Fortuni, Cristina Cariulo, Vinod Khetarpal, Celia Dominguez, Ignacio Muñoz-Sanjuán, Annalise Di Marco
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 14, p 7813 (2022)
While blood–brain barrier (BBB) dysfunction has been described in neurological disorders, including Huntington’s disease (HD), it is not known if endothelial cells themselves are functionally compromised when promoting BBB dysfunction. Furthermor
Externí odkaz:
https://doaj.org/article/270c5f78ddb04b92bb989dab36bd3230
Autor:
Monica Benini, Silvia Fortuni, Ivano Condò, Giulia Alfedi, Florence Malisan, Nicola Toschi, Dario Serio, Damiano Sergio Massaro, Gaetano Arcuri, Roberto Testi, Alessandra Rufini
Publikováno v:
Cell Reports, Vol 18, Iss 8, Pp 2007-2017 (2017)
Friedreich ataxia (FRDA) is a severe genetic neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin. To date, there is no therapy to treat this condition. The amount of residual frataxin critically affects the se
Externí odkaz:
https://doaj.org/article/91c6f610a03c455b85f8d61e25e2e1c1
Autor:
Alessandra Rufini, Francesca Cavallo, Ivano Condò, Silvia Fortuni, Gabriella De Martino, Ottaviano Incani, Almerinda Di Venere, Monica Benini, Damiano Sergio Massaro, Gaetano Arcuri, Dario Serio, Florence Malisan, Roberto Testi
Publikováno v:
Neurobiology of Disease, Vol 75, Iss , Pp 91-99 (2015)
Friedreich ataxia is an inherited neurodegenerative disease that leads to progressive disability. There is currently no effective treatment and patients die prematurely. The underlying genetic defect leads to reduced expression of the mitochondrial p
Externí odkaz:
https://doaj.org/article/623ff819dad64fa8a418bd9fa45633cc
Autor:
L. Mannucci, Dario Serio, Alessandra Rufini, Laura Pacini, Giorgia Pedini, Florence Malisan, Roberto Testi, Damiano Sergio Massaro, Luca Panarello, Monica Benini, Nicola Toschi, Ivano Condò, Giorgia Alaimo, Giulia Alfedi, Riccardo Luffarelli, Silvia Fortuni
Publikováno v:
Movement Disorders. 34:323-334
BACKGROUND Friedreich's ataxia is an autosomal-recessive cerebellar ataxia caused by mutation of the frataxin gene, resulting in decreased frataxin expression, mitochondrial dysfunction, and oxidative stress. Currently, no treatment is available for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::70a32c06650c832c8ba665ae0e1d2419
https://doi.org/10.1002/mds.27604
https://doi.org/10.1002/mds.27604
Autor:
Alessandra Rufini, Silvia Gioiosa, Caterina Mariotti, Francesca Tiano, Francesca Amati, Carlo Casali, Ivano Condò, Giuseppe Novelli, Sara Maletta, Monica Benini, Luca Panarello, M. Fichera, Elena Morini, Marina Frontali, Chiara Vancheri, Silvia Romano, Roberto Testi, Florence Malisan, Fabio Cherubini, Giulia Alfedi, Christian Marcotulli, Andrea Quatrana, Dario Serio, Riccardo Luffarelli, Nicola Toschi, Silvia Fortuni, Alessia Mongelli
Frataxin deficiency, responsible for Friedreich’s ataxia (FRDA), is crucial for cell survival since it critically affects viability of neurons, pancreatic beta cells and cardiomyocytes. In FRDA, the heart is frequently affected with typical manifes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5797f2e6ac0348b77cabdbada7f567dc
http://hdl.handle.net/2108/229118
http://hdl.handle.net/2108/229118
Autor:
Silvia Fortuni, Alessandra Rufini, Gaetano Arcuri, Dario Serio, Ivano Condò, Florence Malisan, Damiano Sergio Massaro, Monica Benini, Roberto Testi, Nicola Toschi, Giulia Alfedi
Publikováno v:
Cell Reports, Vol 18, Iss 8, Pp 2007-2017 (2017)
Cell Reports
Cell Reports
Summary Friedreich ataxia (FRDA) is a severe genetic neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin. To date, there is no therapy to treat this condition. The amount of residual frataxin critically affect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fd64ef47469bd485d9caf0c4efd31f7
https://doi.org/10.1016/j.celrep.2017.01.079
https://doi.org/10.1016/j.celrep.2017.01.079
Autor:
Roberto Testi, Eleonora Diella, Alessandra Rufini, Roberto Salati, Marinela Vavla, Nicola Toschi, Stefania Tirelli, Antonio Russo, Riccardo Luffarelli, Filippo Arrigoni, Maria Grazia D'Angelo, Silvia Fortuni, Andrea Martinuzzi, Ivano Condò, Denis Peruzzo, S. Gandossini, Paolo Scarpazza
Publikováno v:
Movement disorders : official journal of the Movement Disorder SocietyReferences. 35(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a49d52c126250a4e29d066556c07ebb
https://pubmed.ncbi.nlm.nih.gov/31930551
https://pubmed.ncbi.nlm.nih.gov/31930551
Autor:
Stefano Gustincich, Ivano Condò, Riccardo Luffarelli, Carlotta Bon, Stefano Espinoza, Francesca Persichetti, Silvia Fortuni, Claudio Santoro, Piero Carninci, Roberta Russo, Silvia Zucchelli, Chiara Santulli, Cristina Fimiani, Roberto Testi, Diego Cotella, Bianca Pierattini, Antonello Mallamaci
Publikováno v:
Nucleic Acids Research
Friedreich's ataxia (FRDA) is an untreatable disorder with neuro- and cardio-degenerative progression. This monogenic disease is caused by the hyper-expansion of naturally occurring GAA repeats in the first intron of the FXN gene, encoding for fratax
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e613990c68580da4639fcaa580508df1
http://hdl.handle.net/2108/227058
http://hdl.handle.net/2108/227058
Autor:
Giulia, Alfedi, Riccardo, Luffarelli, Ivano, Condò, Giorgia, Pedini, Liliana, Mannucci, Damiano S, Massaro, Monica, Benini, Nicola, Toschi, Giorgia, Alaimo, Luca, Panarello, Laura, Pacini, Silvia, Fortuni, Dario, Serio, Florence, Malisan, Roberto, Testi, Alessandra, Rufini
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 34(3)
Friedreich's ataxia is an autosomal-recessive cerebellar ataxia caused by mutation of the frataxin gene, resulting in decreased frataxin expression, mitochondrial dysfunction, and oxidative stress. Currently, no treatment is available for Friedreich'
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c3fb2bf5c53b767b0ef0582195cb8b10
https://pubmed.ncbi.nlm.nih.gov/30629768
https://pubmed.ncbi.nlm.nih.gov/30629768