Zobrazeno 1 - 10
of 77
pro vyhledávání: '"Alba di Pardo"'
Autor:
Giorgia Maria Ferlazzo, Anna Maria Gambetta, Sonia Amato, Noemi Cannizzaro, Silvia Angiolillo, Mattia Arboit, Linda Diamante, Elena Carbognin, Patrizia Romani, Federico La Torre, Elena Galimberti, Florian Pflug, Mirko Luoni, Serena Giannelli, Giuseppe Pepe, Luca Capocci, Alba Di Pardo, Paola Vanzani, Lucio Zennaro, Vania Broccoli, Martin Leeb, Enrico Moro, Vittorio Maglione, Graziano Martello
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-24 (2023)
Abstract Huntington’s disease (HD) is a neurodegenerative disorder caused by CAG-repeat expansions in the huntingtin (HTT) gene. The resulting mutant HTT (mHTT) protein induces toxicity and cell death via multiple mechanisms and no effective therap
Externí odkaz:
https://doaj.org/article/c1ac1fcec269480f96fa0a3e4fd588a3
Autor:
Rosangela Ferese, Simona Scala, Antonio Suppa, Rosa Campopiano, Francesco Asci, Alessandro Zampogna, Maria Antonietta Chiaravalloti, Annamaria Griguoli, Marianna Storto, Alba Di Pardo, Emiliano Giardina, Stefania Zampatti, Francesco Fornai, Giuseppe Novelli, Mirco Fanelli, Chiara Zecca, Giancarlo Logroscino, Diego Centonze, Stefano Gambardella
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
IntroductionPure hereditary spastic paraplegia (SPG) type 4 (SPG4) is caused by mutations of SPAST gene. This study aimed to analyze SPAST variants in SPG4 patients to highlight the occurrence of splicing mutations and combine functional studies to a
Externí odkaz:
https://doaj.org/article/cd13a9fba9c44771b550bdb4a169ec6c
Autor:
Giuseppe Pepe, Salvatore Fioriniello, Federico Marracino, Luca Capocci, Vittorio Maglione, Maurizio D’Esposito, Alba Di Pardo, Floriana Della Ragione
Publikováno v:
Biomolecules, Vol 13, Iss 4, p 606 (2023)
Rett syndrome (RTT, online MIM 312750) is a devastating neurodevelopmental disorder characterized by motor and cognitive disabilities. It is mainly caused by pathogenetic variants in the X-linked MECP2 gene, encoding an epigenetic factor crucial for
Externí odkaz:
https://doaj.org/article/f8b13bb92ed44651b12c02824c1dd910
Autor:
Francesco Di Meo, Stefania Filosa, Michele Madonna, Gerarda Giello, Alba Di Pardo, Vittorio Maglione, Alfonso Baldi, Stefania Crispi
Publikováno v:
Journal of Experimental & Clinical Cancer Research, Vol 38, Iss 1, Pp 1-11 (2019)
Abstract Background A major limitation in the treatment for malignant mesothelioma is related to serious side effects caused by chemotherapeutics and to the development of cancer-resistance. Advances in cancer therapies have been reached thanks to th
Externí odkaz:
https://doaj.org/article/beb69be76020412e8c356970f43f5baa
Autor:
Konstantinos Mitropoulos, Eleni Merkouri Papadima, Georgia Xiromerisiou, Angeliki Balasopoulou, Kyriaki Charalampidou, Vasiliki Galani, Krystallia-Vassiliki Zafeiri, Efthymios Dardiotis, Styliani Ralli, Georgia Deretzi, Anne John, Kyriaki Kydonopoulou, Elpida Papadopoulou, Alba di Pardo, Fulya Akcimen, Annalisa Loizedda, Valerija Dobričić, Ivana Novaković, Vladimir S. Kostić, Clint Mizzi, Brock A. Peters, Nazli Basak, Sandro Orrù, Evangelos Kiskinis, David N. Cooper, Spyridon Gerou, Radoje Drmanac, Marina Bartsakoulia, Evangelia-Eirini Tsermpini, Georgios M. Hadjigeorgiou, Bassam R. Ali, Theodora Katsila, George P. Patrinos
Publikováno v:
Human Genomics, Vol 11, Iss 1, Pp 1-10 (2017)
Abstract Background Amyotrophic lateral sclerosis (ALS) is a devastating disease whose complex pathology has been associated with a strong genetic component in the context of both familial and sporadic disease. Herein, we adopted a next-generation se
Externí odkaz:
https://doaj.org/article/56ac508e4f8647e88e5a5eebcc04cdbd
Autor:
Johannes Burtscher, Giuseppe Pepe, Federico Marracino, Luca Capocci, Susy Giova, Grégoire P. Millet, Alba Di Pardo, Vittorio Maglione
Publikováno v:
Brain Sciences, Vol 11, Iss 10, p 1267 (2021)
Huntington’s disease (HD) is a rare hereditary neurodegenerative disorder characterized by multiple metabolic dysfunctions including defects in mitochondrial homeostasis and functions. Although we have recently reported age-related changes in the r
Externí odkaz:
https://doaj.org/article/a92bf5238b7f488aabdd4a42fc35ec97
Autor:
Melanie Alpaugh, Danny Galleguillos, Juan Forero, Luis Carlos Morales, Sebastian W Lackey, Preeti Kar, Alba Di Pardo, Andrew Holt, Bradley J Kerr, Kathryn G Todd, Glen B Baker, Karim Fouad, Simonetta Sipione
Publikováno v:
EMBO Molecular Medicine, Vol 9, Iss 11, Pp 1537-1557 (2017)
Abstract Huntington's disease (HD) is a progressive neurodegenerative disorder characterized by motor, cognitive and psychiatric problems. Previous studies indicated that levels of brain gangliosides are lower than normal in HD models and that admini
Externí odkaz:
https://doaj.org/article/55e1302a39374781b7dd2ce52a3ffab4
Autor:
Alba Di Pardo, Enrico Amico, Abdul Basit, Andrea Armirotti, Piyush Joshi, M. Diana Neely, Romina Vuono, Salvatore Castaldo, Anna F. Digilio, Francesco Scalabrì, Giuseppe Pepe, Francesca Elifani, Michele Madonna, Se Kyoo Jeong, Bu-Mahn Park, Maurizio D’Esposito, Aaron B. Bowman, Roger A. Barker, Vittorio Maglione
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-14 (2017)
Abstract Huntington’s disease is characterized by a complex and heterogeneous pathogenic profile. Studies have shown that disturbance in lipid homeostasis may represent a critical determinant in the progression of several neurodegenerative disorder
Externí odkaz:
https://doaj.org/article/bf0f9516edd7471585e05c6cc1d03c10
Autor:
Alba Di Pardo, Giuseppe Pepe, Salvatore Castaldo, Federico Marracino, Luca Capocci, Enrico Amico, Michele Madonna, Susy Giova, Se Kyoo Jeong, Bu-Mahn Park, Byeong Deog Park, Vittorio Maglione
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 12 (2019)
Although several agents have been identified to provide therapeutic benefits in Huntington disease (HD), the number of conventionally used treatments remains limited and only symptomatic. Thus, it is plausible that the need to identify new therapeuti
Externí odkaz:
https://doaj.org/article/910e1a0379c0463d96e94853e7357092
Autor:
Alba Di Pardo, Vittorio Maglione
Publikováno v:
Frontiers in Neuroscience, Vol 12 (2018)
Neurodegenerative diseases represent a class of fatal brain disorders for which the number of effective therapeutic options remains limited with only symptomatic treatment accessible. Multiple studies show that defects in sphingolipid pathways are sh
Externí odkaz:
https://doaj.org/article/cfef536c0b8e4576af6abca9ccd1801a