The cystic fibrosis (CF) field is the beneficiary of five species of animal models that lack functional cystic fibrosis transmembrane conductance regulator (CFTR) channel. These models are rapidly informing mechanisms of disease pathogenesis and CFTR function regardless of how faithfully a given organ reproduces the human CF phenotype. New approaches of genetic engineering with RNA-guided nucleases are rapidly expanding both the potential types of models available and the approaches to correct the CFTR defect.
End-of-life practice patterns at U.S. adult cystic fibrosis care centers: A national retrospective chart review
There are many challenges to providing end-of-life care (EOLC) to people with cystic fibrosis (CF).
Cystic fibrosis (CF) mutations have complex effects on the cystic fibrosis transmembrane conductance regulator (CFTR) protein. They disrupt its processing to and stability at the plasma membrane and function as an ATP-gated Cl− channel. Here, we review therapeutic strategies to overcome defective CFTR processing and stability. Because CF mutations have multiple impacts on the assembly of CFTR protein, combination therapy with several pharmacological chaperones is likely to be required to rescue mutant CFTR expression at the plasma membrane.
Blood flow regulation and oxidative stress during submaximal cycling exercise in patients with cystic fibrosis
The impact of blood flow regulation and oxidative stress during exercise in cystic fibrosis (CF) has yet to be investigated.
Different levels of CFTR regulation in the cell contribute to a stringent control of chloride secretion in epithelia. Tuning of chloride transport is achieved by modulating CFTR biogenesis, exit from the endoplasmic reticulum, trafficking, membrane stability and channel activity. In this short review, we summarize recent findings identifying interactions with other proteins – directly or through membrane lipids – and briefly discuss how these observations can provide clues to the design of better therapeutic approaches.
Screening for ADHD in adults with cystic fibrosis: Prevalence, health-related quality of life, and adherence
International guidelines recommend depression and anxiety screening in individuals with cystic fibrosis (CF), but Attention-Deficit Hyperactivity Disorder (ADHD) remains understudied.
Sexual and reproductive health care utilization and preferences reported by young women with cystic fibrosis
This study aimed to describe and compare the sexual and reproductive health (SRH) care utilization among young women with cystic fibrosis (CF) with the general United States (U.S.) population.