Q1291H-CFTR molecular dynamics simulations and ex vivo theratyping in nasal epithelial models and clinical response to elexacaftor/tezacaftor/ivacaftor in a Q1291H/F508del patient

Q1291H-CFTR molecular dynamics simulations and ex vivo theratyping in nasal epithelial models and clinical response to elexacaftor/tezacaftor/ivacaftor in a Q1291H/F508del patient

Background: Cystic fibrosis (CF) is caused by a wide spectrum of mutations in the CF transmembrane conductance regulator (CFTR) gene, with some leading to non-classical clinical presentations. We present an integrated in vivo, in silico and in vitro investigation of an individual with CF carrying th...

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Bibliographic Details
Main Authors: Katelin M. Allan, Miro A. Astore, Egi Kardia, Sharon L. Wong, Laura K. Fawcett, Jessica L. Bell, Simone Visser, Po-Chia Chen, Renate Griffith, Adam Jaffe, Sheila Sivam, Orazio Vittorio, Serdar Kuyucak, Shafagh A. Waters
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-06-01
Series:Frontiers in Molecular Biosciences
Subjects:
cystic fibrosis
CFTR
modulators
airway epithelial cell models
personalized medicine
molecular dynamics
Online Access:https://www.frontiersin.org/articles/10.3389/fmolb.2023.1148501/full

Internet

https://www.frontiersin.org/articles/10.3389/fmolb.2023.1148501/full

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