Publications by authors named "Mairead Kelly-Aubert"
Article Synopsis
- Cystic Fibrosis (CF) is a disease caused by problems with a specific protein in our cells, and it's not just about that one protein being broken.
- Researchers are using a complex method to understand how the lack of this protein disrupts important processes in cells and causes health issues.
- The study found important proteins that could help attack CF and suggested new ways to treat it, which might also help with other rare diseases in the future.
Introduction: 'Highly effective' modulator therapies (HEMTs) have radically changed the Cystic Fibrosis (CF) therapeutic landscape.
Areas Covered: A comprehensive search strategy was undertaken to assess impact of HEMT in life of pwCF, treatment challenges in specific populations such as very young children, and current knowledge gaps.
Expert Opinion: HEMTs are prescribed for pwCF with definite genotypes.
Cystic fibrosis (CF) is caused by defective Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) proteins. CFTR controls chloride (Cl) and bicarbonate (HCO ) transport into the Airway Surface Liquid (ASL). We investigated the impact of F508del-CFTR correction on HCO secretion by studying transepithelial HCO fluxes.
View Article and Find Full Text PDFBackground: Around 20% of people with cystic fibrosis (pwCF) do not have access to the triple combination elexacaftor/tezacaftor/ivacaftor (ETI) in Europe because they do not carry the F508del allele on the CF transmembrane conductance regulator () gene. Considering that pwCF carrying rare variants may benefit from ETI, including variants already validated by the US Food and Drug Administration (FDA), a compassionate use programme was launched in France. PwCF were invited to undergo a nasal brushing to investigate whether the pharmacological rescue of CFTR activity by ETI in human nasal epithelial cell (HNEC) cultures was predictive of the clinical response.
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- Some people with Cystic Fibrosis (CF) also have a rare skin problem called aquagenic palmoplantar keratoderma, but it's unclear why this happens.
- Researchers studied the sweat of 25 CF patients and 12 healthy people to find out what proteins were different in their sweat.
- They found 57 proteins that were different; many were increased in CF patients, suggesting issues with their skin barrier and that this information might help in treating CF better.
Cystic fibrosis (CF), a multisystem disease caused by CFTR (cystic fibrosis transmembrane conductance regulator) gene mutations, is associated with an abnormal inflammatory response and compromised redox homeostasis in the airways. Recent evidence suggests that dysfunctional CFTR leads to redox imbalance and to mitochondrial reduced glutathione (mtGSH) depletion in CF models. This study was designed to investigate the consequences of mtGSH depletion on mitochondrial function and inflammatory response.
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