Allelic heterogeneity in disease-causing genes presents a substantial challenge to the translation
of genomic variation into clinical practice. Few of the almost 2,000 variants in the cystic …

Standard follow-up and symptomatic treatment have allowed most patients with cystic fibrosis
to live to young adulthood. However, many patients still die prematurely from respiratory …

We investigated in different human cell types nuclear positioning and transcriptional regulation
of the functionally unrelated genes GASZ, CFTR, and CORTBP2, mapping to adjacent …

Background New drugs that improve the function of the cystic fibrosis transmembrane
conductance regulator (CFTR) protein with discreet disease-causing variants have been …

With the discovery of the CFTR gene in 1989, the search for therapies to improve the basic
defects of cystic fibrosis (CF) commenced. Pharmacological manipulation provides the …

Biosynthesis and folding of multidomain transmembrane proteins is a complex process.
Structural fidelity is monitored by endoplasmic reticulum (ER) quality control involving the …

Estimates of the level of transcripts from the cystic fibrosis (CF) transmembrane conductance
regulator (CFTR) gene required to develop a CF phenotype range from 4–20% of normal. …

The autosomal recessive disease cystic fibrosis (CF) is caused by mutations in the gene
coding for the CF transmembrane conductance regulator (CFTR) protein, a cAMP-activated …

Cystic fibrosis is mostly caused by the F508del mutation, which impairs CFTR protein from
exiting the endoplasmic reticulum due to misfolding. VX-809 is a small molecule that rescues …

One of the major challenges facing the pharmaceutical field is the identification of novel, ‘druggable'
targets common to distinct diseases that, despite their clinical diversity, share the …