Phenotyping Rare CFTR Mutations Reveal Functional Expression Defects Restored by TRIKAFTATM

Rescue of multiple class II CFTR mutations by elexacaftor+ tezacaftor+ivacaftor mediated in part by the dual activities of Elexacaftor as both corrector and potentiator

(2021) Onofrio Laselva et al.   EUROPEAN RESPIRATORY JOURNAL

Novel Correctors and Potentiators Enhance Functional Rescue of CFTR Nonsense Mutation Translational Readthrough

(2021) Venkateshwar Mutyam et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Anti-Infectives Restore ORKAMBI® Rescue of F508del-CFTR Function in Human Bronchial Epithelial Cells Infected with Clinical Strains of P. aeruginosa

(2020) Onofrio Laselva et al.   Biomolecules

A helper-dependent adenoviral vector rescues CFTR to wild type functional levels in CF epithelial cells harbouring class I mutations

(2020) Huibi Cao et al.   EUROPEAN RESPIRATORY JOURNAL

The preclinical discovery and development of the combination of ivacaftor + tezacaftor used to treat cystic fibrosis

(2020) Lorenzo Guerra et al.   Expert Opinion on Drug Discovery

Correction of CFTR function in intestinal organoids to guide treatment of Cystic Fibrosis

(2020) Anabela S. Ramalho et al.   EUROPEAN RESPIRATORY JOURNAL

Emerging preclinical modulators developed for F508del-CFTR have the potential to be effective for ORKAMBI resistant processing mutants

(2020) Onofrio Laselva et al.   Journal of Cystic Fibrosis

Allele-Specific Prevention of Nonsense-Mediated Decay in Cystic Fibrosis Using Homology-Independent Genome Editing

(2020) Steven Erwood et al.   Molecular Therapy-Methods & Clinical Development

The CFTR Mutation c.3453G > C (D1152H) Confers an Anion Selectivity Defect in Primary Airway Tissue that Can be Rescued by Ivacaftor

(2020) Onofrio Laselva et al.   Journal of Personalized Medicine

Photochemically Activated Notch Signaling Hydrogel Preferentially Differentiates Human Derived Hepatoblasts to Cholangiocytes

(2020) Muhammad Rizwan et al.   ADVANCED FUNCTIONAL MATERIALS

Allosteric folding correction of F508del and rare CFTR mutants by elexacaftor-tezacaftor-ivacaftor (Trikafta) combination

(2020) Guido Veit et al.   JCI Insight

Rectal Organoids Enable Personalized Treatment of Cystic Fibrosis

(2019) Gitte Berkers et al.   Cell Reports

Cholesterol Interaction Directly Enhances Intrinsic Activity of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)

(2019) Chin et al.   Cells

ORKAMBI-Mediated Rescue of Mucociliary Clearance in Cystic Fibrosis Primary Respiratory Cultures Is Enhanced by Arginine Uptake, Arginase Inhibition, and Promotion of Nitric Oxide Signaling to the Cystic Fibrosis Transmembrane Conductance Regulator Channel

(2019) Yu-Sheng Wu et al.   MOLECULAR PHARMACOLOGY

Comprehensive mapping of cystic fibrosis mutations to CFTR protein identifies mutation clusters and molecular docking predicts corrector binding site

(2018) Steven V. Molinski et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Molecular Mechanism of Action of Trimethylangelicin Derivatives as CFTR Modulators

(2018) Onofrio Laselva et al.   Frontiers in Pharmacology

Structure-guided combination therapy to potently improve the function of mutant CFTRs

(2018) Guido Veit et al.   NATURE MEDICINE

VX-445–Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles

(2018) Dominic Keating et al.   NEW ENGLAND JOURNAL OF MEDICINE

Correction of CFTR function in nasal epithelial cells from cystic fibrosis patients predicts improvement of respiratory function by CFTR modulators

(2017) Iwona M. Pranke et al.   Scientific Reports

Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation

(2017) Sofía C. Ortiz et al.   Molecular Genetics & Genomic Medicine

Correctors of mutant CFTR enhance subcortical cAMP–PKA signaling through modulating ezrin phosphorylation and cytoskeleton organization

(2016) Anna C. Abbattiscianni et al.   JOURNAL OF CELL SCIENCE

Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles

(2016) Vito Terlizzi et al.   JOURNAL OF MEDICAL GENETICS

Lumacaftor–Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR

(2015) Claire E. Wainwright et al.   NEW ENGLAND JOURNAL OF MEDICINE

Measurements of Functional Responses in Human Primary Lung Cells as a Basis for Personalized Therapy for Cystic Fibrosis

(2015) Nikhil T. Awatade et al.   EBioMedicine

Trimethylangelicin promotes the functional rescue of mutant F508del CFTR protein in cystic fibrosis airway cells

(2014) Maria Favia et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY

A functional CFTR assay using primary cystic fibrosis intestinal organoids

(2013) Johanna F Dekkers et al.   NATURE MEDICINE

Phosphorylation-dependent 14-3-3 protein interactions regulate CFTR biogenesis

(2012) Xiubin Liang et al.   MOLECULAR BIOLOGY OF THE CELL

CFTR H609R mutation in Ecuadorian patients with cystic fibrosis

(2009) María Rosa Moya-Quiles et al.   Journal of Cystic Fibrosis