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Literature DB >> 24066763

Ivacaftor in a G551D homozygote with cystic fibrosis.

Michael J Harrison, Desmond M Murphy, Barry J Plant.

Abstract

Entities: Chemical Disease Mutation

Mesh：

Substances：

Year: 2013 PMID： 24066763 DOI： 10.1056/NEJMc1213681

Source DB: PubMed Journal: N Engl J Med ISSN： 0028-4793 Impact factor: 91.245

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Cited

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21 in total

1. The holy grail of cystic fibrosis research: pharmacological repair of the F508del-CFTR mutation.

Authors: Luigi Maiuri; Daniela De Stefano; Valeria Raia; Guido Kroemer
Journal: Ann Transl Med Date: 2015-05

2. Interference with ubiquitination in CFTR modifies stability of core glycosylated and cell surface pools.

Authors: Seakwoo Lee; Mark J Henderson; Eric Schiffhauer; Jordan Despanie; Katherine Henry; Po Wei Kang; Douglas Walker; Michelle L McClure; Landon Wilson; Eric J Sorscher; Pamela L Zeitlin
Journal: Mol Cell Biol Date: 2014-07 Impact factor: 4.272

Review 3. Impact of gene editing on the study of cystic fibrosis.

Authors: Patrick T Harrison; David J Sanz; Jennifer A Hollywood
Journal: Hum Genet Date: 2016-06-21 Impact factor: 4.132

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

Authors: Ryan J Adam; Katherine B Hisert; Jonathan D Dodd; Brenda Grogan; Janice L Launspach; Janel K Barnes; Charles G Gallagher; Jered P Sieren; Thomas J Gross; Anthony J Fischer; Joseph E Cavanaugh; Eric A Hoffman; Pradeep K Singh; Michael J Welsh; Edward F McKone; David A Stoltz
Journal: JCI Insight Date: 2016-04-07

Review 5. Emerging technologies for cystic fibrosis transmembrane conductance regulator restoration in all people with CF.

Authors: Marie E Egan
Journal: Pediatr Pulmonol Date: 2021-02

Ivacaftor in a G551D homozygote with cystic fibrosis.

1. The holy grail of cystic fibrosis research: pharmacological repair of the F508del-CFTR mutation.

2. Interference with ubiquitination in CFTR modifies stability of core glycosylated and cell surface pools.

Review 3. Impact of gene editing on the study of cystic fibrosis.

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

Review 5. Emerging technologies for cystic fibrosis transmembrane conductance regulator restoration in all people with CF.

6. Mutation-specific downregulation of CFTR2 variants by gating potentiators.

7. PharmGKB summary: very important pharmacogene information for CFTR.

Review 8. Cystic fibrosis from the gastroenterologist's perspective.

9. Potentiator ivacaftor abrogates pharmacological correction of ΔF508 CFTR in cystic fibrosis.

10. Positional effects of premature termination codons on the biochemical and biophysical properties of CFTR.