Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Giulia Alfedi"'
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:
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:
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