Výsledky vyhledávání - "F508del cftr"

Akademický článek

Maternal, newborn and breast milk concentrations of elexacaftor/tezacaftor/ivacaftor in a F508del heterozygous woman with cystic fibrosis following successful pregnancy

Autor: Pietro Ripani, Matteo Mucci, Stefano Pantano, Maria Di Sabatino, Francesca Collini, Giulia Ferri, Mario Romano, Antonio Recchiuti

Publikováno v: Frontiers in Medicine, Vol 10 (2023)

With the introduction of elexacaftor/tezacaftor/ivacaftor (ETI), more women with cystic fibrosis (CF) are likely to grow families. Hence, an understanding long-term safety and effects of CFTR modulators on fertile women and children while monitoring

Externí odkaz: https://doaj.org/article/9c1b7c0925724f1ea56e0e8bdfe26e16

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Akademický článek

NBD2 Is Required for the Rescue of Mutant F508del CFTR by a Thiazole-Based Molecule: A Class II Corrector for the Multi-Drug Therapy of Cystic Fibrosis

Autor: Chiara Brandas, Alessandra Ludovico, Alice Parodi, Oscar Moran, Enrico Millo, Elena Cichero, Debora Baroni

Publikováno v: Biomolecules, Vol 11, Iss 10, p 1417 (2021)

Cystic fibrosis (CF) is caused by loss-of-function mutations in the CF transmembrane conductance regulator (CFTR) protein, an anion channel that regulates epithelial surface fluid secretion. The deletion of phenylalanine at position 508 (F508del) is

Externí odkaz: https://doaj.org/article/f960845893d34528af582d51d712d607

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Akademický článek

New Insights into the Binding Features of F508del CFTR Potentiators: A Molecular Docking, Pharmacophore Mapping and QSAR Analysis Approach

Autor: Giada Righetti, Monica Casale, Michele Tonelli, Nara Liessi, Paola Fossa, Nicoletta Pedemonte, Enrico Millo, Elena Cichero

Publikováno v: Pharmaceuticals, Vol 13, Iss 12, p 445 (2020)

Cystic fibrosis (CF) is the autosomal recessive disorder most recurrent in Caucasian populations. To combat this disease, many life-prolonging therapies are required and deeply investigated, including the development of the so-called cystic fibrosis

Externí odkaz: https://doaj.org/article/1e180c37a3f34af1978c5797f69441b3

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Akademický článek

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Functional tests for assessment of residual CFTR channel activity and personalized selection of efficacious CFTR-modulators for cystic fibrosis patients with ‘mild’ and ‘severe’ genetic variants

Publikováno v: PULMONOLOGIYA. 31:167-177

Intestinal current measurement (ICM) and forskolin-induced swelling (FIS) assay in human intestinal organoids from rectal biopsies of cystic fibrosis (CF) patients are the new functional tests for assessment of CFTR channel activity that are widely u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8c687697d7c77a8a44036760bd63ef74
https://doi.org/10.18093/0869-0189-2021-31-2-167-177

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Clinical Effectiveness of Lumacaftor/Ivacaftor in Patients with Cystic Fibrosis Homozygous for F508del-CFTR. A Clinical Trial

Autor: Antoinette Moran, Felix Ratjen, Daniel Gelfond, Jill M. VanDalfsen, Sonya L. Heltshe, John P. Clancy, Umer Khan, Scott H. Donaldson, Steven M. Rowe, Scott D. Sagel, Drucy Borowitz

Publikováno v: Annals of the American Thoracic Society. 18:75-83

Rationale: The combination of lumacaftor (LUM) and ivacaftor (IVA) is an approved CFTR (cystic fibrosis [CF] transmembrane conductance regulator) modulator treatment for homozygous F508del patients...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1112332f23eae5cfc0577eca9dd88d66
https://doi.org/10.1513/annalsats.202002-144oc

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Akademický článek

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Towards next generation therapies for cystic fibrosis: Folding, function and pharmacology of CFTR☆

Autor: Peter M. Haggie, Jae Seok Yoon, Mathias Schenkel, Samuel J. Bose, William R. Skach, David N. Sheppard, Michael Schlierf, Demi R S Ng, Georg Krainer, Hideki Shishido

Publikováno v: Journal of Cystic Fibrosis

Highlights • Co-translational folding of NBD1 is disrupted by CF mutations. • FRET analysis of transmembrane constructs reveals misfolding by CF mutations. • The impact of the F508del mutation on CFTR is species-dependent. • Two potentiators

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::869edb2a0252eb0fd4d99bcb11e3e682
http://europepmc.org/articles/PMC7052731

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Discovery of novel VX-809 hybrid derivatives as F508del-CFTR correctors by molecular modeling, chemical synthesis and biological assays

Autor: Marco Rusnati, Chiara Urbinati, Bruno Tasso, Annalisa Salis, Valeria Tomati, Gianluca Damonte, Emanuela Pesce, Nicoletta Pedemonte, Elena Cichero, Alice Parodi, Giada Righetti, Enrico Millo

Publikováno v: European journal of medicinal chemistry. 208

Cystic fibrosis (CF) is the autosomal recessive disorder most recurrent in Caucasian populations. It is caused by different mutations in the cystic fibrosis transmembrane regulator protein (CFTR) gene, with F508del being the most common. During the l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::680d2a22fe4e904b1d72f9b4d76ee869
https://pubmed.ncbi.nlm.nih.gov/32971410

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NBD2 Is Required for the Rescue of Mutant F508del CFTR by a Thiazole-Based Molecule: A Class II Corrector for the Multi-Drug Therapy of Cystic Fibrosis

Autor: Alessandra Ludovico, Chiara Brandas, Alice Parodi, Oscar Moran, Debora Baroni, Elena Cichero, Enrico Millo

Publikováno v: Biomolecules, Vol 11, Iss 1417, p 1417 (2021)
Biomolecules 11 (2021). doi:10.3390/biom11101417
info:cnr-pdr/source/autori:Brandas C.; Ludovico A.; Parodi A.; Moran O.; Millo E.; Cichero E.; Baroni D./titolo:Nbd2 is required for the rescue of mutant f508del cftr by a thiazole-based molecule: A class ii corrector for the multi-drug therapy of cystic fibrosis/doi:10.3390%2Fbiom11101417/rivista:Biomolecules/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume:11
Biomolecules
Volume 11
Issue 10

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e911c0070d4b90281537a087c8213320
https://www.mdpi.com/2218-273X/11/10/1417

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