Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Alessandra Rufini"'
Autor:
Chiara Vancheri, Andrea Quatrana, Elena Morini, Caterina Mariotti, Alessia Mongelli, Mario Fichera, Alessandra Rufini, Ivano Condò, Roberto Testi, Giuseppe Novelli, Florence Malisan, Francesca Amati
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-12 (2024)
Abstract Friedreich ataxia (FRDA) is a life-threatening hereditary ataxia; its incidence is 1:50,000 individuals in the Caucasian population. A unique therapeutic drug for FRDA, the antioxidant Omaveloxolone, has been recently approved by the US Food
Externí odkaz:
https://doaj.org/article/50cfdfc2a76e4541a14757c29ec203df
Autor:
Gabriella Paparella, Cristina Stragà, Nicola Pesenti, Valentina Dal Molin, Gian Antonio Martorel, Vasco Merotto, Cristina Genova, Arianna Piazza, Giuseppe Piccoli, Elena Panzeri, Alessandra Rufini, Roberto Testi, Andrea Martinuzzi
Publikováno v:
Children, Vol 11, Iss 8, p 958 (2024)
Background: A drug repositioning effort supported the possible use of the anti-HIV drug etravirine as a disease-modifying drug for Friedreich ataxia (FRDA). Etravirine increases frataxin protein and corrects the biochemical defects in cells derived f
Externí odkaz:
https://doaj.org/article/7fb03a3a233d4a4fbfa3a22523e17318
Autor:
Monica Benvenuto, Valentina Angiolini, Chiara Focaccetti, Daniela Nardozi, Camilla Palumbo, Raffaele Carrano, Alessandra Rufini, Riccardo Bei, Martino Tony Miele, Patrizia Mancini, Giovanni Barillari, Mara Cirone, Elisabetta Ferretti, Grazia Raffaella Tundo, Luciano Mutti, Laura Masuelli, Roberto Bei
Publikováno v:
Biology Direct, Vol 18, Iss 1, Pp 1-20 (2023)
Abstract Background Malignant mesothelioma (MM) is a rare tumor with a dismal prognosis. The low efficacy of current treatment options highlights the urge to identify more effective therapies aimed at improving MM patients’ survival. Bortezomib (Bo
Externí odkaz:
https://doaj.org/article/d7fb152ec84945d69dcad913c8a97445
Autor:
Camilla Palumbo, Monica Benvenuto, Chiara Focaccetti, Loredana Albonici, Loredana Cifaldi, Alessandra Rufini, Daniela Nardozi, Valentina Angiolini, Arianna Bei, Laura Masuelli, Roberto Bei
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer type, has often an aggressive course and is poorly responsive to current therapeutic approaches, so that 5-year survival rates for patients diagnosed with advanced disease
Externí odkaz:
https://doaj.org/article/d6f720f93f8648ba9b1f75e1baee10f3
Publikováno v:
Frontiers in Neuroscience, Vol 16 (2022)
Friedreich ataxia is a rare neurodegenerative disorder caused by insufficient levels of the essential mitochondrial protein frataxin. It is a severely debilitating disease that significantly impacts the quality of life of affected patients and reduce
Externí odkaz:
https://doaj.org/article/ccdd7d0d55b449fe8bdf45b28823a908
Autor:
Marinela Vavla, Filippo Arrigoni, Nicola Toschi, Denis Peruzzo, Maria Grazia D’Angelo, Sandra Gandossini, Annamaria Russo, Eleonora Diella, Stefania Tirelli, Roberto Salati, Alessandra Rufini, Ivano Condo, Roberto Testi, Andrea Martinuzzi
Publikováno v:
Frontiers in Neuroscience, Vol 14 (2020)
The identification of efficient markers of disease progression and response to possibly effective treatments is a key priority for slowly progressive, rare and neurodegenerative diseases, such as Friedreich’s ataxia. Various imaging modalities have
Externí odkaz:
https://doaj.org/article/e520e76cbb0d4bbaabb29f57e5b37d5b
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:
Andrea Quatrana, Elena Morini, Francesca Tiano, Chiara Vancheri, Luca Panarello, Silvia Romano, Christian Marcotulli, Carlo Casali, Caterina Mariotti, Alessia Mongelli, Mario Fichera, Alessandra Rufini, Ivano Condò, Giuseppe Novelli, Roberto Testi, Francesca Amati, Florence Malisan
Frataxin (FXN) deficiency is responsible for Friedreich’s ataxia (FRDA) in which, besides the characteristic features of spinocerebellar ataxia, two thirds of patients develop hypertrophic cardiomyopathy that often progresses to heart failure and p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10c825996b2be523ee34aefe8a4d268d
http://hdl.handle.net/10281/390969
http://hdl.handle.net/10281/390969
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