Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Cristina, Pastorino"'
Autor:
Vito Terlizzi, Emanuela Pesce, Valeria Capurro, Valeria Tomati, Mariateresa Lena, Cristina Pastorino, Renata Bocciardi, Federico Zara, Claudia Centrone, Giovanni Taccetti, Carlo Castellani, Nicoletta Pedemonte
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 7, p 6576 (2023)
S737F is a Cystic Fibrosis (CF) transmembrane conductance regulator (CFTR) missense variant. The aim of our study was to describe the clinical features of a cohort of individuals carrying this variant. In parallel, by exploiting ex vivo functional an
Externí odkaz:
https://doaj.org/article/6a16620b242b4aad8e5c5d86d85081d7
Autor:
Margherita Baldassarri, Kristina Zguro, Valeria Tomati, Cristina Pastorino, Francesca Fava, Susanna Croci, Mirella Bruttini, Nicola Picchiotti, Simone Furini, GEN-COVID Multicenter Study, Nicoletta Pedemonte, Chiara Gabbi, Alessandra Renieri, Chiara Fallerini
Publikováno v:
Cells, Vol 11, Iss 24, p 4096 (2022)
Carriers of single pathogenic variants of the CFTR (cystic fibrosis transmembrane conductance regulator) gene have a higher risk of severe COVID-19 and 14-day death. The machine learning post-Mendelian model pinpointed CFTR as a bidirectional modulat
Externí odkaz:
https://doaj.org/article/ec2742f9cbc749dbb444c8844510be5c
Autor:
Elvira Sondo, Federico Cresta, Cristina Pastorino, Valeria Tomati, Valeria Capurro, Emanuela Pesce, Mariateresa Lena, Michele Iacomino, Ave Maria Baffico, Domenico Coviello, Tiziano Bandiera, Federico Zara, Luis J. V. Galietta, Renata Bocciardi, Carlo Castellani, Nicoletta Pedemonte
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 6, p 3175 (2022)
Loss-of-function mutations of the CFTR gene cause cystic fibrosis (CF) through a variety of molecular mechanisms involving altered expression, trafficking, and/or activity of the CFTR chloride channel. The most frequent mutation among CF patients, F5
Externí odkaz:
https://doaj.org/article/e72757c0aeb640ae8395a9be9b96906f
Autor:
Alice Parodi, Giada Righetti, Emanuela Pesce, Annalisa Salis, Valeria Tomati, Cristina Pastorino, Bruno Tasso, Mirko Benvenuti, Gianluca Damonte, Nicoletta Pedemonte, Elena Cichero, Enrico Millo
Publikováno v:
Pharmaceuticals, Vol 15, Iss 3, p 274 (2022)
Cystic fibrosis (CF) is a genetic disease affecting the lungs and pancreas and causing progressive damage. CF is caused by mutations abolishing the function of CFTR, a protein whose role is chloride’s mobilization in the epithelial cells of various
Externí odkaz:
https://doaj.org/article/a45f844f31e74867b60512c6b03b868d
Autor:
Valeria Capurro, Valeria Tomati, Elvira Sondo, Mario Renda, Anna Borrelli, Cristina Pastorino, Daniela Guidone, Arianna Venturini, Alessandro Giraudo, Sine Mandrup Bertozzi, Ilaria Musante, Fabio Bertozzi, Tiziano Bandiera, Federico Zara, Luis J. V. Galietta, Nicoletta Pedemonte
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 10, p 5262 (2021)
Deletion of phenylalanine at position 508 (F508del) in the CFTR chloride channel is the most frequent mutation in cystic fibrosis (CF) patients. F508del impairs the stability and folding of the CFTR protein, thus resulting in mistrafficking and prema
Externí odkaz:
https://doaj.org/article/0305434c75504b6b9876d7e023f82674
Autor:
Elisa Principi, Elvira Sondo, Giovanna Bianchi, Silvia Ravera, Martina Morini, Valeria Tomati, Cristina Pastorino, Federico Zara, Claudio Bruno, Alessandra Eva, Nicoletta Pedemonte, Lizzia Raffaghello
Publikováno v:
Cancers; Volume 14; Issue 7; Pages: 1802
RNF5, an endoplasmic reticulum (ER) E3 ubiquitin ligase, participates to the ER-associated protein degradation guaranteeing the protein homeostasis. Depending on tumor model tested, RNF5 exerts pro- or anti-tumor activity. The aim of this study was t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00aa49812fc67d9cec49dc5827f11ecb
http://hdl.handle.net/11567/1080774
http://hdl.handle.net/11567/1080774
Autor:
Valeria Tomati, Stefano Costa, Valeria Capurro, Emanuela Pesce, Cristina Pastorino, Mariateresa Lena, Elvira Sondo, Marco Di Duca, Federico Cresta, Simona Cristadoro, Federico Zara, Luis J.V. Galietta, Renata Bocciardi, Carlo Castellani, Maria Cristina Lucanto, Nicoletta Pedemonte
Background: Cystic fibrosis is caused by mutations impairing expression, trafficking, stability and/or activity of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel. The G1244E mutation causes a severe gating defect that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4294bafcfa4e5f64db39991eddc0f8e
https://hdl.handle.net/11588/908353
https://hdl.handle.net/11588/908353
Autor:
Arianna Venturini, Daniela Guidone, Ilaria Musante, Sine Mandrup Bertozzi, Cristina Pastorino, Valeria Tomati, Tiziano Bandiera, Nicoletta Pedemonte, Valeria Capurro, Federico Zara, Luis J. V. Galietta, Fabio Bertozzi, Anna Borrelli, Elvira Sondo, Mario Renda, Alessandro Giraudo
Publikováno v:
International Journal of Molecular Sciences
Volume 22
Issue 10
International Journal of Molecular Sciences, Vol 22, Iss 5262, p 5262 (2021)
Volume 22
Issue 10
International Journal of Molecular Sciences, Vol 22, Iss 5262, p 5262 (2021)
Deletion of phenylalanine at position 508 (F508del) in the CFTR chloride channel is the most frequent mutation in cystic fibrosis (CF) patients. F508del impairs the stability and folding of the CFTR protein, thus resulting in mistrafficking and prema