Zobrazeno 1 - 10
of 359
pro vyhledávání: '"P. Scudieri"'
Autor:
Michele Iacomino, Nadia Houerbi, Sara Fortuna, Jennifer Howe, Shan Li, Giovanna Scorrano, Antonella Riva, Kai-Wen Cheng, Mandy Steiman, Iskra Peltekova, Afiqah Yusuf, Simona Baldassari, Serena Tamburro, Paolo Scudieri, Ilaria Musante, Armando Di Ludovico, Sara Guerrisi, Ganna Balagura
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 17 (2024)
The human PLAA gene encodes Phospholipase-A2-Activating-Protein (PLAA) involved in trafficking of membrane proteins. Through its PUL domain (PLAP, Ufd3p, and Lub1p), PLAA interacts with p97/VCP modulating synaptic vesicles recycling. Although few fam
Externí odkaz:
https://doaj.org/article/cd756b48f5374befbf921f001de44d20
Autor:
Giulia Gorrieri, Serena Tamburro, Simona Baldassari, Sara Guerrisi, Federico Zara, Emilia Ricci, Duccio Maria Cordelli, Paolo Scudieri, Ilaria Musante
Publikováno v:
Stem Cell Research, Vol 76, Iss , Pp 103333- (2024)
ZEB2 is a protein-coding gene belonging to a very restricted family of transcription factors. ZEB2 acts mainly as a transcription repressor, is expressed in various tissues and its role is fundamental for the correct development of the nervous system
Externí odkaz:
https://doaj.org/article/8b222d7bc7b945c28fb461512d5a496d
Autor:
Pietro Scudieri
Publikováno v:
Erga-Logoi, Vol 11, Iss 2, Pp 259-264 (2023)
Externí odkaz:
https://doaj.org/article/e19508ee322d44f38f87bd4f39d559d9
Novel tricyclic pyrrolo-quinolines as pharmacological correctors of the mutant CFTR chloride channel
Autor:
Mario Renda, Marilia Barreca, Anna Borrelli, Virginia Spanò, Alessandra Montalbano, Maria Valeria Raimondi, Roberta Bivacqua, Ilaria Musante, Paolo Scudieri, Daniela Guidone, Martina Buccirossi, Michele Genovese, Arianna Venturini, Tiziano Bandiera, Paola Barraja, Luis J. V. Galietta
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-14 (2023)
Abstract F508del, the most frequent mutation in cystic fibrosis (CF), impairs the stability and folding of the CFTR chloride channel, thus resulting in intracellular retention and CFTR degradation. The F508del defect can be targeted with pharmacologi
Externí odkaz:
https://doaj.org/article/a7ea66016c554c0992a26cad057a85ca
Autor:
Michał Dębczyński, Damian Mojsak, Serena Tamburro, Simona Baldassari, Ilaria Musante, Rosaria Casciaro, Fabiana Ciciriello, Federico Zara, Paolo Scudieri, Giulia Gorrieri
Publikováno v:
Stem Cell Research, Vol 72, Iss , Pp 103232- (2023)
Cystic Fibrosis Transmembrane conductance Regulator (CFTR) is a chloride channel defective in cystic fibrosis (CF). Several CFTR mutations are causative of CF, among which G542X is a nonsense mutation introducing a premature stop codon which prevents
Externí odkaz:
https://doaj.org/article/4a50fda3f923421b9c320b02619a784a
Akademický článek
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Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
Autor:
Paola Borgia, Simona Baldassari, Nicoletta Pedemonte, Ebba Alkhunaizi, Gianluca D’Onofrio, Domenico Tortora, Elisa Calì, Paolo Scudieri, Ganna Balagura, Ilaria Musante, Maria Cristina Diana, Marina Pedemonte, Maria Stella Vari, Michele Iacomino, Antonella Riva, Roberto Chimenz, Giuseppe D. Mangano, Mohammad Hasan Mohammadi, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Ehsan Ghayoor Karimiani, Andrea Accogli, Maria Cristina Schiaffino, Mohamad Maghnie, Miguel Angel Soler, Karl Echiverri, Charles K. Abrams, Pasquale Striano, Sara Fortuna, Reza Maroofian, Henry Houlden, Federico Zara, Chiara Fiorillo, Vincenzo Salpietro
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-18 (2022)
Abstract Background Pathogenic variants in PEX-genes can affect peroxisome assembly and function and cause Zellweger spectrum disorders (ZSDs), characterized by variable phenotypes in terms of disease severity, age of onset and clinical presentations
Externí odkaz:
https://doaj.org/article/b0942062979e4884addbd3a28381170c
Akademický článek
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Akademický článek
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Autor:
Marcello Scala, Midas Anijs, Roberta Battini, Francesca Madia, Valeria Capra, Paolo Scudieri, Alberto Verrotti, Federico Zara, Carlo Minetti, Sonja C. Vernes, Pasquale Striano
Publikováno v:
Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-5 (2021)
Abstract Background Heterozygous variants in CNTNAP2 have been implicated in a wide range of neurological phenotypes, including intellectual disability (ID), epilepsy, autistic spectrum disorder (ASD), and impaired language. However, heterozygous var
Externí odkaz:
https://doaj.org/article/4752db8dbdd84a0cb662df2e004a0926