CFTR modulators: the changing face of cystic fibrosis in the era of precision medicine
M Lopes-Pacheco - Frontiers in pharmacology, 2020 - frontiersin.org
Cystic fibrosis (CF) is a lethal inherited disease caused by mutations in the CF
transmembrane conductance regulator (CFTR) gene, which result in impairment of CFTR …
transmembrane conductance regulator (CFTR) gene, which result in impairment of CFTR …
Pharmacological modulation of ion channels for the treatment of cystic fibrosis
MC Pinto, IAL Silva, MF Figueira… - Journal of …, 2021 - Taylor & Francis
Cystic fibrosis (CF) is a life-shortening monogenic disease caused by mutations in the gene
encoding the CF transmembrane conductance regulator (CFTR) protein, an anion channel …
encoding the CF transmembrane conductance regulator (CFTR) protein, an anion channel …
Human primary epithelial cell models: promising tools in the era of cystic fibrosis personalized medicine
NT Awatade, SL Wong, CK Hewson… - Frontiers in …, 2018 - frontiersin.org
Cystic fibrosis (CF) is an inherited disorder where individual disease etiology and response
to therapeutic intervention is impacted by CF transmembrane regulator (CFTR) mutations …
to therapeutic intervention is impacted by CF transmembrane regulator (CFTR) mutations …
Emerging gene therapies for cystic fibrosis
KM Miah, SC Hyde, DR Gill - Expert review of respiratory medicine, 2019 - Taylor & Francis
Introduction: Cystic fibrosis (CF) remains a life-threatening genetic disease, with few
clinically effective treatment options. Gene therapy and gene editing strategies offer the …
clinically effective treatment options. Gene therapy and gene editing strategies offer the …
Rare trafficking CFTR mutations involve distinct cellular retention machineries and require different rescuing strategies
Most of the~ 2100 CFTR variants so far reported are very rare and still uncharacterized
regarding their cystic fibrosis (CF) disease liability. Since some may respond to currently …
regarding their cystic fibrosis (CF) disease liability. Since some may respond to currently …
Redefining hypo-and hyper-responding phenotypes of CFTR mutants for understanding and therapy
T Hillenaar, J Beekman, P van der Sluijs… - International Journal of …, 2022 - mdpi.com
Mutations in CFTR cause misfolding and decreased or absent ion-channel function,
resulting in the disease Cystic Fibrosis. Fortunately, a triple-modulator combination therapy …
resulting in the disease Cystic Fibrosis. Fortunately, a triple-modulator combination therapy …
Personalized medicine based on nasal epithelial cells: comparative studies with rectal biopsies and intestinal organoids
As highly effective CFTR modulator therapies (HEMT) emerge, there is an unmet need to
find effective drugs for people with CF (PwCF) with ultra-rare mutations who are too few for …
find effective drugs for people with CF (PwCF) with ultra-rare mutations who are too few for …
Two CFTR mutations within codon 970 differently impact on the chloride channel functionality
F Amato, P Scudieri, I Musante, V Tomati… - Human …, 2019 - Wiley Online Library
Pharmacological rescue of mutant cystic fibrosis transmembrane conductance regulator
(CFTR) in cystic fibrosis (CF) depends on the specific defect caused by different mutation …
(CFTR) in cystic fibrosis (CF) depends on the specific defect caused by different mutation …
Adapting proteostasis and autophagy for controlling the pathogenesis of cystic fibrosis lung disease
M Bodas, N Vij - Frontiers in pharmacology, 2019 - frontiersin.org
Cystic fibrosis (CF), a fatal genetic disorder predominant in the Caucasian population, is
caused by mutations in the cystic fibrosis transmembrane conductance regulator (Cftr) gene …
caused by mutations in the cystic fibrosis transmembrane conductance regulator (Cftr) gene …
Precision medicine for rare diseases: The times they are A-Changin'
MD Amaral - Current Opinion in Pharmacology, 2022 - Elsevier
The greatest challenge of current biomedicine is to identify curative therapies for every
disease in a personalized way so that every individual gets benefit. To that end, however …
disease in a personalized way so that every individual gets benefit. To that end, however …