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 …

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 …

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 …

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 …

Rare trafficking CFTR mutations involve distinct cellular retention machineries and require different rescuing strategies

SS Ramalho, IAL Silva, MD Amaral… - International Journal of …, 2021 - mdpi.com
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 …

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 …

Personalized medicine based on nasal epithelial cells: comparative studies with rectal biopsies and intestinal organoids

IAL Silva, V Railean, A Duarte, MD Amaral - Journal of Personalized …, 2021 - mdpi.com
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 …

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 …

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 …

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 …