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Lumacaftor-rescued F508del-CFTR has a modified bicarbonate permeability

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society

Feb 11, 2019

Loretta FerreraOscar Moran

Abstract

Deletion of phenylalanine at position 508, F508del, the most frequent mutation among Cystic fibrosis (CF) patients, destabilizes the protein, thus causing both a folding and a trafficking defect, resulting in a dramatic reduction in expression of CFTR. In vitro treatment with lumacaftor...read more

Mentioned in this Paper

Cratoxylum formosum
Positioning Attribute
Regulation of Biological Process
Gene Deletion
Cystic Fibrosis
CFTR gene
Mutant
Bicarbonates
CFTR
Surface
2
9
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Lumacaftor-rescued F508del-CFTR has a modified bicarbonate permeability

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society

Feb 11, 2019

Loretta FerreraOscar Moran

PMID: 30738802

DOI: 10.1016/j.jcf.2019.01.012

Abstract

Deletion of phenylalanine at position 508, F508del, the most frequent mutation among Cystic fibrosis (CF) patients, destabilizes the protein, thus causing both a folding and a trafficking defect, resulting in a dramatic reduction in expression of CFTR. In vitro treatment with lumacaftor...read more

Mentioned in this Paper

Cratoxylum formosum
Positioning Attribute
Regulation of Biological Process
Gene Deletion
Cystic Fibrosis
CFTR gene
Mutant
Bicarbonates
CFTR
Surface
2
9

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