Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Dario, Serio"'
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:
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
Autor:
Florence Malisan, Alessandra Rufini, Roberto Testi, Almerinda Di Venere, Gaetano Arcuri, Ottaviano Incani, Ivano Condò, Dario Serio, Francesca Cavallo, Gabriella De Martino, Silvia Fortuni, Damiano Sergio Massaro, Monica Benini
Publikováno v:
Neurobiology of Disease
Neurobiology of Disease, Vol 75, Iss, Pp 91-99 (2015)
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b8435cc494485690a9c369f8a3f8c98
https://doi.org/10.1016/j.nbd.2014.12.011
https://doi.org/10.1016/j.nbd.2014.12.011
Autor:
Marco Crescenzi, Ivano Condò, Ilaria Guccini, Alessandra Rufini, Silvia Fortuni, Florence Malisan, Gaetano Arcuri, Shadman Moiz, Serena Camerini, Dario Serio, Fabio Cherubini, Roberto Testi
Defective expression of frataxin is responsible for the inherited, progressive degenerative disease Friedreich's Ataxia (FRDA). There is currently no effective approved treatment for FRDA and patients die prematurely. Defective frataxin expression ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::365b296a61ed2e5f4f319eb74c596df8
http://hdl.handle.net/2108/117428
http://hdl.handle.net/2108/117428
Autor:
Alessandra Rufini, Ilaria Guccini, Daniele Fina, Andrea Levi, Annunziato Mangiola, Barbara Tomassini, Ivano Condò, Dario Serio, Natascia Ventura, Carmelo Anile, Florence Malisan, Maria Patrizia Mongiardi, Francesco Pallone, Roberto Testi, Giulio Maira
Publikováno v:
Cell Death & Disease
Defective expression of frataxin is responsible for the degenerative disease Friedreich's ataxia. Frataxin is a protein required for cell survival since complete knockout is lethal. Frataxin protects tumor cells against oxidative stress and apoptosis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2768789c39f2e4f7a443d14900287e3a
http://hdl.handle.net/2108/8814
http://hdl.handle.net/2108/8814
Autor:
Alessandra Rufini, Dario Serio, Natascia Ventura, Gaetano Arcuri, Ivano Condò, Silvia Fortuni, Roberto Testi, Ottaviano Incani, Florence Malisan
Publikováno v:
Human molecular genetics. 20(7)
Friedreich's ataxia (FRDA) is a devastating orphan disease, with no specific treatment. The disease is caused by reduced expression of the protein frataxin, which results in mitochondrial defects and oxidative damage. Levels of residual frataxin crit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bf8cde0a1c13a5ba32cb404cc0c4d6c
https://pubmed.ncbi.nlm.nih.gov/21216878
https://pubmed.ncbi.nlm.nih.gov/21216878