Therapeutic benefit observed with the CFTR potentiator, ivacaftor, in a CF patient homozygous for the W1282X CFTR nonsense mutation-Reference-Cited by-同舟云学术

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

Published:2017-01 Issue:1 Volume:16 Page:24-29
ISSN:1569-1993
Container-title:Journal of Cystic Fibrosis
language:en
Short-container-title:Journal of Cystic Fibrosis

Author:

Mutyam Venkateshwar,Libby Emily Falk,Peng Ning,Hadjiliadis Denis,Bonk Michael,Solomon George M.,Rowe Steven M.

Funder

NIH

Emily's Entourage LLC

Cystic Fibrosis Foundation

Publisher

Elsevier BV

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology and Child Health

Reference21 articles.

1. Cystic fibrosis;Rowe;N Engl J Med,2005

2. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis;Welsh;Cell,1993

3. Suppression of CFTR premature termination codons and rescue of CFTR protein and function by the synthetic aminoglycoside NB54;Rowe;J Mol Med (Berl),2011

4. Restoration of W1282X CFTR activity by enhanced expression;Rowe;Am J Respir Cell Mol Biol,2007

5. In vitro prediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study;Sermet-Gaudelus;BMC Med,2007

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2. Antisense Oligonucleotide Therapeutics for Cystic Fibrosis: Recent Developments and Perspectives;Molecules and Cells;2023-01

3. Cystic fibrosis related diabetes (CFRD) in the era of modulators: A scoping review;Paediatric Respiratory Reviews;2022-12

4. S945L-CFTR molecular dynamics, functional characterization and tezacaftor/ivacaftor efficacy in vivo and in vitro in matched pediatric patient-derived cell models;Frontiers in Pediatrics;2022-11-16

5. Small-molecule eRF3a degraders rescue CFTR nonsense mutations by promoting premature termination codon readthrough;Journal of Clinical Investigation;2022-09-15

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