Zobrazeno 1 - 10
of 86
pro vyhledávání: '"Francesco, Miceli"'
Autor:
Silvia Piccirillo, Alessandra Preziuso, Salvatore Amoroso, Tiziano Serfilippi, Francesco Miceli, Simona Magi, Vincenzo Lariccia
Publikováno v:
Cell Death Discovery, Vol 8, Iss 1, Pp 1-13 (2022)
Abstract Alzheimer’s disease (AD) is a neurodegenerative disorder that represents the first cause of dementia. Although there has been significant progress in AD research, the actual mechanisms underlying this pathology remain largely unknown. Ther
Externí odkaz:
https://doaj.org/article/5a6fd06c24a0445a80c12cb6fdf0ff71
Autor:
Francesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, Ilaria Mosca, Paolo Ambrosino, Lidia Carotenuto, Dewi Schrader, Hyun Kyung Lee, James Riviello, William Hong, Sarah Risen, Lisa Emrick, Hitha Amin, Dorothée Ville, Patrick Edery, Julitta de Bellescize, Vincent Michaud, Julien Van-Gils, Cyril Goizet, Marjolein H. Willemsen, Tjitske Kleefstra, Rikke S Møller, Allan Bayat, Orrin Devinsky, Tristan Sands, G. Christoph Korenke, Gerhard Kluger, Heather C. Mefford, Eva Brilstra, Gaetan Lesca, Mathieu Milh, Edward C. Cooper, Maurizio Taglialatela, Sarah Weckhuysen
Publikováno v:
EBioMedicine, Vol 81, Iss , Pp 104130- (2022)
Summary: Background: Prior studies have revealed remarkable phenotypic heterogeneity in KCNQ2-related disorders, correlated with effects on biophysical features of heterologously expressed channels. Here, we assessed phenotypes and functional propert
Externí odkaz:
https://doaj.org/article/27289a7516ba4ba9b422fb966fcb4594
Autor:
Anna Lauritano, Sebastien Moutton, Elena Longobardi, Frédéric Tran Mau‐Them, Giusy Laudati, Piera Nappi, Maria Virginia Soldovieri, Paolo Ambrosino, Mauro Cataldi, Thibaud Jouan, Daphné Lehalle, Hélène Maurey, Christophe Philippe, Francesco Miceli, Antonio Vitobello, Maurizio Taglialatela
Publikováno v:
Epilepsia Open, Vol 4, Iss 3, Pp 464-475 (2019)
Abstract Objective Heterozygous variants in KCNQ2 or, more rarely, KCNQ3 genes are responsible for early‐onset developmental/epileptic disorders characterized by heterogeneous clinical presentation and course, genetic transmission, and prognosis. W
Externí odkaz:
https://doaj.org/article/97250fe42ada46c4b9c58256134bf79c
Autor:
Elena Longobardi, Francesco Miceli, Agnese Secondo, Rita Cicatiello, Antonella Izzo, Nadia Tinto, Sebastien Moutton, Frédéric Tran Mau-Them, Antonio Vitobello, Maurizio Taglialatela
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102311- (2021)
Heterozygous variants in the KCNQ3 gene cause epileptic and/or developmental disorders of varying severity. Here we describe the generation of induced pluripotent stem cells (iPSCs) from a 9-year-old girl with pharmacodependent neonatal-onset epileps
Externí odkaz:
https://doaj.org/article/93963da4c1d646249d0cb4f2945f3f7f
Publikováno v:
Frontiers in Physiology, Vol 12 (2021)
Externí odkaz:
https://doaj.org/article/36be8d81bf7141089060090b2c2855b6
Publikováno v:
Frontiers in Physiology, Vol 11 (2020)
Kv7.2 subunits encoded by the KCNQ2 gene constitute a critical molecular component of the M-current, a subthreshold voltage-gated potassium current controlling neuronal excitability by dampening repetitive action potential firing. Pathogenic loss-of-
Externí odkaz:
https://doaj.org/article/adc39b6beb6641489b474294fef71909
Autor:
Francesco Miceli, Lidia Carotenuto, Vincenzo Barrese, Maria Virginia Soldovieri, Erin L. Heinzen, Arthur M. Mandel, Natalie Lippa, Louise Bier, David B. Goldstein, Edward C. Cooper, Maria Roberta Cilio, Maurizio Taglialatela, Tristan T. Sands
Publikováno v:
Frontiers in Physiology, Vol 11 (2020)
Pathogenic variants in KCNQ2 and KCNQ3, paralogous genes encoding Kv7.2 and Kv7.3 voltage-gated K+ channel subunits, are responsible for early−onset developmental/epileptic disorders characterized by heterogeneous clinical phenotypes ranging from b
Externí odkaz:
https://doaj.org/article/05430e2eb7dd4b1fbcd4f49e2c141c8d
Autor:
Vanessa Barbaro, Annamaria Assunta Nasti, Paolo Raffa, Angelo Migliorati, Patrizia Nespeca, Stefano Ferrari, Elisa Palumbo, Marina Bertolin, Claudia Breda, Francesco Miceli, Antonella Russo, Luciana Caenazzo, Diego Ponzin, Giorgio Palù, Cristina Parolin, Enzo Di Iorio
Publikováno v:
Stem Cells Translational Medicine, Vol 5, Iss 8, Pp 1098-1105 (2016)
Ectrodactyly‐ectodermal dysplasia‐clefting (EEC) syndrome is a rare autosomal dominant disease caused by mutations in the p63 gene. To date, approximately 40 different p63 mutations have been identified, all heterozygous. No definitive treatments
Externí odkaz:
https://doaj.org/article/dd3ca4149b594fb0b8e26b239e3a0e64
Publikováno v:
2022 IEEE International Conference on Metrology for Extended Reality, Artificial Intelligence and Neural Engineering (MetroXRAINE).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b0b9979f7cd36c2ff4f0ba54684ddbe7
https://doi.org/10.1109/metroxraine54828.2022.9967629
https://doi.org/10.1109/metroxraine54828.2022.9967629
Autor:
Paolo Ambrosino, Maria Virginia Soldovieri, Erika Di Zazzo, Gianluca Paventi, Fabio Arturo Iannotti, Ilaria Mosca, Francesco Miceli, Cristina Franco, Lorella Maria Teresa Canzoniero, Maurizio Taglialatela
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 18, p 4322 (2019)
Kv7.2-Kv7.5 channels mediate the M-current (IKM), a K+-selective current regulating neuronal excitability and representing an attractive target for pharmacological therapy against hyperexcitability diseases such as pain. Kv7 channels interact functio
Externí odkaz:
https://doaj.org/article/06b8da88eea64ece9e1f8598dbec5f0f