CFTR function and prospects for therapy

JR Riordan - Annu. Rev. Biochem., 2008 - annualreviews.org
Mutations in the gene coding for the cystic fibrosis transmembrane conductance regulator
(CFTR) epithelial anion channel cause cystic fibrosis (CF). The multidomain integral …

Degradation of CFTR by the ubiquitin-proteasome pathway

CL Ward, S Omura, RR Kopito - Cell, 1995 - cell.com
Most cases of cystic fibrosis are caused by mutations that interfere with the biosynthetic
folding of thecystic fibrosis transmembrane conductance regulator (CFTR), leading to the …

Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation

PA Flume, TG Liou, DS Borowitz, H Li, K Yen… - Chest, 2012 - Elsevier
Background Ivacaftor (VX-770) is a cystic fibrosis transmembrane conductance regulator
(CFTR) potentiator that was approved in the United States for the treatment of cystic fibrosis …

The Hsc70 co-chaperone CHIP targets immature CFTR for proteasomal degradation

GC Meacham, C Patterson, W Zhang, JM Younger… - Nature cell …, 2001 - nature.com
The folding of both wild-type and mutant forms of the cystic-fibrosis transmembrane-
conductance regulator (CFTR), a plasma-membrane chloride-ion channel, is inefficient 1, 2 …

Multiple proteolytic systems, including the proteasome, contribute to CFTR processing

TJ Jensen, MA Loo, S Pind, DB Williams, AL Goldberg… - Cell, 1995 - cell.com
The molecular components of the quality control system that rapidly degrades abnormal
membrane and secretory proteins have not been identified. The cystic fibrosis …

Sweat: a sample with limited present applications and promising future in metabolomics

A Mena-Bravo, MDL De Castro - Journal of pharmaceutical and biomedical …, 2014 - Elsevier
Sweat is a biofluid with present scant use as clinical sample. This review tries to
demonstrate the advantages of sweat over other biofluids such as blood or urine for routine …

Physiological basis of cystic fibrosis: a historical perspective

PM Quinton - Physiological reviews, 1999 - journals.physiology.org
Quinton, Paul. M. Physiological Basis of Cystic Fibrosis: A Historical Perspective. Physiol.
Rev. 79, Suppl.: S3–S22, 1999.—Cystic fibrosis made a relatively late entry into medical …

CFTR, mucins, and mucus obstruction in cystic fibrosis

SM Kreda, CW Davis, MC Rose - Cold Spring …, 2012 - perspectivesinmedicine.cshlp.org
Mucus pathology in cystic fibrosis (CF) has been known for as long as the disease has been
recognized and is sometimes called mucoviscidosis. The disease is marked by mucus …

Submucosal glands are the predominant site of CFTR expression in the human bronchus

JF Engelhardt, JR Yankaskas, SA Ernst, Y Yang… - Nature …, 1992 - nature.com
We have used in situ hybridization and immunocytochemistry to characterize the cellular
distribution of cystic fibrosis (CF) gene expression in human bronchus. The cystic fibrosis …

Recent insights into channelopathies

OF Harraz, E Delpire - Physiological reviews, 2024 - journals.physiology.org
The membrane of cells and intracellular organelles is 2 composed of two layers of lipids,
preventing the free “in 3 and out” movement of water and solutes that are necessary 4 for …