Zobrazeno 1 - 10
of 148
pro vyhledávání: '"Salvatore, Saccone"'
Autor:
Mirella Vinci, Simone Treccarichi, Rosanna Galati Rando, Antonino Musumeci, Valeria Todaro, Concetta Federico, Salvatore Saccone, Maurizio Elia, Francesco Calì
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract E3 ubiquitin protein ligase encoded by ARIH2 gene catalyses the ubiquitination of target proteins and plays a crucial role in posttranslational modifications across various cellular processes. As prior documented, mutations in genes involved
Externí odkaz:
https://doaj.org/article/afe92c20c5f64e3f9faef09770125098
Autor:
Simone Treccarichi, Francesco Calì, Mirella Vinci, Alda Ragalmuto, Antonino Musumeci, Concetta Federico, Carola Costanza, Maria Bottitta, Donatella Greco, Salvatore Saccone, Maurizio Elia
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 7, Pp 6407-6422 (2024)
SRY-box transcription factor (SOX) genes, a recently discovered gene family, play crucial roles in the regulation of neuronal stem cell proliferation and glial differentiation during nervous system development and neurogenesis. Whole exome sequencing
Externí odkaz:
https://doaj.org/article/03db60a06cdc43c59c274cfd34085c48
Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy
Autor:
Mirella Vinci, Girolamo Aurelio Vitello, Donatella Greco, Simone Treccarichi, Alda Ragalmuto, Antonino Musumeci, Antonio Fallea, Concetta Federico, Francesco Calì, Salvatore Saccone, Maurizio Elia
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 2, Pp 1150-1163 (2024)
Ion channelopathies result from impaired ion channel protein function, due to mutations affecting ion transport across cell membranes. Over 40 diseases, including neuropathy, pain, migraine, epilepsy, and ataxia, are associated with ion channelopathi
Externí odkaz:
https://doaj.org/article/ec923136ff84447eb001c4b042a48c4c
Autor:
Denise Ragusa, Ylenia Cicirò, Concetta Federico, Salvatore Saccone, Francesca Bruno, Reza Saeedi, Cristina Sisu, Cristina Pina, Arturo Sala, Sabrina Tosi
Publikováno v:
Oncogenesis, Vol 11, Iss 1, Pp 1-7 (2022)
Abstract Acute myeloid leukaemia carrying the translocation t(7;12)(q36;p13) is an adverse-risk leukaemia uniquely observed in infants. Despite constituting up to 30% of cases in under 2-year-olds, it remains poorly understood. Known molecular featur
Externí odkaz:
https://doaj.org/article/5e65c05896734882813936b8b25d5ac4
Autor:
Chiara Burgaletto, Chiara Bianca Maria Platania, Giulia Di Benedetto, Antonio Munafò, Giovanni Giurdanella, Concetta Federico, Rosario Caltabiano, Salvatore Saccone, Federica Conti, Renato Bernardini, Claudio Bucolo, Giuseppina Cantarella
Publikováno v:
Cell Death and Disease, Vol 12, Iss 10, Pp 1-15 (2021)
Abstract Age-related disorders, such as Alzheimer’s disease (AD) and age-related macular degeneration (AMD) share common features such as amyloid-β (Aβ) protein accumulation. Retinal deposition of Aβ aggregates in AMD patients has suggested a po
Externí odkaz:
https://doaj.org/article/1350c49c0b8845c881bea63a279b6b85
Autor:
Francesco Calì, Francesco Domenico Di Blasi, Emanuela Avola, Mirella Vinci, Antonino Musumeci, Angelo Gloria, Donatella Greco, Daniela Rita Raciti, Alessandro Zagami, Biagio Rizzo, Santina Città, Concetta Federico, Luigi Vetri, Salvatore Saccone, Serafino Buono
Publikováno v:
Medicina, Vol 59, Iss 8, p 1503 (2023)
Background and Objectives: Specific Learning Disorder (SLD) is a complex neurobiological disorder characterized by a persistent difficult in reading (dyslexia), written expression (dysgraphia), and mathematics (dyscalculia). The hereditary and geneti
Externí odkaz:
https://doaj.org/article/c52658657864431d919bb3b9d79f8f4a
Autor:
Francesca Bruno, Valentina Sturiale, Desiree Brancato, Laura Gil, Isabel M. Olazabal, Fernando Pinedo, Ana B. Rebolledo, Salvatore Saccone, Concetta Federico
Publikováno v:
Medical Sciences Forum, Vol 21, Iss 1, p 28 (2023)
Age-related neurodegenerative diseases have drawn the interest of the scientific community due to the gradual increase in the average age in the world’s population. Recent studies have indicated an altered cell cycle in the triggering of neurodegen
Externí odkaz:
https://doaj.org/article/ee930f7e52e94a1b87d61ffec41ff052
Autor:
Giulia Di Benedetto, Chiara Burgaletto, Anna R. Carta, Salvatore Saccone, Laurence Lempereur, Giovanna Mulas, Carla Loreto, Renato Bernardini, Giuseppina Cantarella
Publikováno v:
Journal of Neuroinflammation, Vol 16, Iss 1, Pp 1-17 (2019)
Abstract Background Currently, there are no effective therapeutic options for Alzheimer’s disease, the most common, multifactorial form of dementia, characterized by anomalous amyloid accumulation in the brain. Growing evidence points to neuroinfla
Externí odkaz:
https://doaj.org/article/5b3d2f646b2345b58927556b6c14dce2
Autor:
Ketty Dugo, Francesca Bruno, Valentina Sturiale, Desiree Brancato, Salvatore Saccone, Concetta Federico
Publikováno v:
Biomedicines, Vol 10, Iss 10, p 2394 (2022)
Point mutations of the transthyretin (TTR) gene are related with hereditary amyloidosis (hATTR). The number of people affected by this rare disease is only partially estimated. The real impact of somatic mosaicism and other genetic factors on express
Externí odkaz:
https://doaj.org/article/f85e2229a790492b9df6b778bf220c84
Autor:
Antonino Musumeci, Francesco Calì, Carmela Scuderi, Mirella Vinci, Girolamo Aurelio Vitello, Sebastiano Antonino Musumeci, Valeria Chiavetta, Concetta Federico, Greta Amore, Salvatore Saccone, Gabriella Di Rosa, Antonio Gennaro Nicotera
Publikováno v:
Biomedicines, Vol 10, Iss 9, p 2276 (2022)
Recessive mutations in the POLR3A gene cause POLR3-HLD (the second-most-common form of childhood-onset hypomyelinating leukodystrophy), a neurodegenerative disorder featuring deficient cerebral myelin formation. To date, more than 140 POLR3A (NM_0070
Externí odkaz:
https://doaj.org/article/1a2fd868c75a424aa70373f81358cae5