Zobrazeno 1 - 10
of 85
pro vyhledávání: '"Francesco, Calì"'
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:
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:
Mirella Vinci, Petri Kursula, Donatella Greco, Maurizio Elia, Luigi Vetri, Carmelo Schepis, Valeria Chiavetta, Serena Donadio, Michele Roccella, Marco Carotenuto, Valentino Romano, Francesco Calì
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 9, Pp n/a-n/a (2022)
Abstract Background The AHNAK2 gene encodes a large nucleoprotein expressed in several tissues, including brain, squamous epithelia, smooth muscle, and neuropil. Its role in calcium signaling has been suggested and to date, clear evidence about its i
Externí odkaz:
https://doaj.org/article/c863386b717d400bb0253b535cdc532e
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-4 (2020)
Abstract Background Genetic familiar causes of oro-facial dyskinesia are usually restricted to Huntington’s disease, whereas other causes are often missed or underestimated. Here, we report the case of late-onset oro-facial dyskinesia in an elderly
Externí odkaz:
https://doaj.org/article/8c89f658830245a29ed29fce150cba86
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review
Autor:
Greta Amore, Ambra Butera, Giulia Spoto, Giulia Valentini, Maria Concetta Saia, Vincenzo Salpietro, Francesco Calì, Gabriella Di Rosa, Antonio Gennaro Nicotera
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Potassium Voltage-Gated Channel Subfamily Q Member 2 (KCNQ2) gene has been initially associated with “Benign familial neonatal epilepsy” (BFNE). Amounting evidence arising by next-generation sequencing techniques have led to the definition of new
Externí odkaz:
https://doaj.org/article/7993bcb9aaca4cf1b842d8275001b43f
Autor:
Glen R. Monroe, Albertien M. van Eerde, Federico Tessadori, Karen J. Duran, Sanne M. C. Savelberg, Johanna C. van Alfen, Paulien A. Terhal, Saskia N. van der Crabben, Klaske D. Lichtenbelt, Sabine A. Fuchs, Johan Gerrits, Markus J. van Roosmalen, Koen L. van Gassen, Mirjam van Aalderen, Bart G. Koot, Marlies Oostendorp, Marinus Duran, Gepke Visser, Tom J. de Koning, Francesco Calì, Paolo Bosco, Karin Geleijns, Monique G. M. de Sain-van der Velden, Nine V. Knoers, Jeroen Bakkers, Nanda M. Verhoeven-Duif, Gijs van Haaften, Judith J. Jans
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-8 (2019)
D-lactic acidosis typically occurs in the context of short bowel syndrome; excess D-lactate is produced by intestinal bacteria. Here, the authors identify two point mutations in the human lactate dehydrogenase D (LDHD) gene that cause enzymatic loss
Externí odkaz:
https://doaj.org/article/0dc2cc8f517f49eaa57ea85a84853e50
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
Autor:
Giuseppe Lanza, Francesco Calì, Mirella Vinci, Filomena Irene Ilaria Cosentino, Mariangela Tripodi, Rosario Sebastiano Spada, Mariagiovanna Cantone, Rita Bella, Teresa Mattina, Raffaele Ferri
Publikováno v:
Neural Plasticity, Vol 2020 (2020)
Purpose. The advancements in the next-generation sequencing (NGS) techniques have allowed for rapid, efficient, and cost-time-effective genetic variant detection. However, in both clinical practice and research setting, sequencing is still often limi
Externí odkaz:
https://doaj.org/article/35b0be5e85e6497e8ab8610377a3bc4d