Testing CFTR repair in cystic fibrosis patients carrying nonsense and channel gating mutations (original) (raw)

Treatment of Cystic Fibrosis Patients Homozygous for F508del with Lumacaftor-Ivacaftor (Orkambi®) Restores Defective CFTR Channel Function in Circulating Mononuclear Cells

Maria Favia

International Journal of Molecular Sciences

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Ivacaftor in Subjects With Cystic Fibrosis Who Are Homozygous for the F508del-CFTR Mutation

David Geller

Chest, 2012

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Effects of Ivacaftor in CF Patients with R117H-CFTR

Susanna McColley

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Therapeutic benefit observed with the CFTR potentiator, ivacaftor, in a CF patient homozygous for the W1282X CFTR nonsense mutation

Denis Hadjiliadis

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society, 2017

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Defective CFTR Expression and Function Are Detectable in Blood Monocytes: Development of a New Blood Test for Cystic Fibrosis

Michele Ettorre

PloS one, 2011

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Ivacaftor in cystic fibrosis: the first disease modifying agent

Suruchi Aditya

International Journal of Basic & Clinical Pharmacology, 2012

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University of Dundee Restoration of CFTR function in patients with cystic fibrosis carrying the F 508 del-CFTR mutation

Speranza Esposito

2014

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Triplet CFTR modulators: future prospects for treatment of cystic fibrosis

Nauman Chaudary

Therapeutics and Clinical Risk Management

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Detection of CFTR protein in human leukocytes by flow cytometry

Jan Johansson, Mario Buffelli, Giuseppe Bellisola, Paola Melotti, C. Sorio, Sara Caldrer, Marzia Vezzalini

Cytometry Part A, 2014

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Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation

Stefano Guido, Speranza Esposito

Autophagy, 2014

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The use of ivacaftor in CFTR mutations resulting in residual functioning protein

Rubin Cohen

Respiratory Medicine Case Reports, 2016

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Assays of CFTR Function In Vitro, Ex Vivo and In Vivo

Mieke Boon

International Journal of Molecular Sciences

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Effectiveness of ivacaftor in cystic fibrosis: Improvement of liver cirrhosis, nutritional status and respiratory function

RUTH GARCIA ROMERO

Medicina Clínica (english Edition), 2020

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Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function

Beth Hoffman

Journal of Cystic Fibrosis, 2014

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Cystic fibrosis and CFTR

M. Bleich, Matthias Briel, Rainer Schreiber

Pfl�gers Archiv European Journal of Physiology, 2001

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CFTR Modulators in People with Cystic Fibrosis: Real-World Evidence in France

Jennifer Pinheiro Da Silva

Cells

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

Marco Cipolli

New England Journal of Medicine, 2015

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Function, pharmacological correction and maturation of new Indian CFTR gene mutations

Frédéric Becq

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society, 2015

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GLPG1837, a CFTR potentiator, in p.Gly551Asp (G551D)-CF patients: An open-label, single-arm, phase 2a study (SAPHIRA1)

Pavel Drevinek

Journal of Cystic Fibrosis

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A CFTR potentiator in patients with cystic fibrosis and the G551D mutation

Richard Moss, Claire Wainwright

The New England journal of medicine, 2011

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A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial

Susanna McColley

The Lancet. Respiratory medicine, 2014

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Acute administration of ivacaftor to people with cystic fibrosis and a G551D-CFTR mutation reveals smooth muscle abnormalities

Ryan Adam

JCI Insight, 2016

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Effectivenesss of ivacaftor in severe cystic fibrosis patients and non‐G551D gating mutations

Donatello Salvatore

Pediatric Pulmonology, 2019

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

Arianna Bisogno

Expert Opinion on Drug Discovery, 2020

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