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Effect of CFTR modulators Elexacaftor/Tezacaftor/Ivacaftor on lipid metabolism in human bronchial epithelial cells.
Glycoconj J
January 2025
Department of Medical Biotechnology and Translational Medicine, University of Milano, Milan, Italy.
Cystic Fibrosis (CF) is a life-threatening hereditary disease resulting from mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene that encodes a chloride channel essential for ion transport in epithelial cells. Mutations in CFTR, notably the prevalent F508del mutation, impair chloride transport, severely affecting the respiratory system and leading to recurrent infections. Recent therapeutic advancements include CFTR modulators such as ETI, a combination of two correctors (Elexacaftor and Tezacaftor) and a potentiator (Ivacaftor), that can improve CFTR function in patients with the F508del mutation.
View Article and Find Full Text PDFEfficacy of Cystic Fibrosis Transmembrane Regulator Corrector C17 in Beta-Sarcoglycanopathy-Assessment of Patient's Primary Myotubes.
Int J Mol Sci
December 2024
Department of Biomedical Sciences, University of Padova, Via U. Bassi 58/B, 35131 Padova, Italy.
Limb-girdle muscular dystrophy type 2E/R4 (LGMD2E/R4) is a rare disease that currently has no cure. It is caused by defects in the gene, mainly missense mutations, which cause the impairment of the sarcoglycan complex, membrane fragility, and progressive muscle degeneration. Here, we studied the fate of some β-sarcoglycan (β-SG) missense mutants, confirming that, like α-SG missense mutants, they are targeted for degradation through the ubiquitin-proteasome system.
View Article and Find Full Text PDFThe F508del-CFTR trafficking correctors elexacaftor and tezacaftor are CFTR-independent Ca-mobilizing agonists normalizing abnormal Ca levels in human airway epithelial cells.
Respir Res
December 2024
PRéTi, Université de Poitiers, Poitiers, France.
Background: Cystic fibrosis (CF) is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) channel. For people with CF (pwCF) affected by the most common pathogenic variant F508del, a tritherapy, named Trikafta/Kaftrio (ETI: elexacaftor (VX-445) /tezacaftor (VX-661) / ivacaftor (VX-770)) was successfully developed. However, in CF airway epithelial cells the calcium homeostasis is also disturbed; it is observed an increased calcium mobilization in CF cells compared to non-CF cells.
View Article and Find Full Text PDFCharacterization of biogenic selenium nanoparticles in hypersaline media by single particle inductively coupled plasma mass spectrometry: Haloferax mediterranei case.
Anal Chim Acta
January 2025
Multidisciplinary Institute for Environmental Studies "Ramón Margalef", University of Alicante, Ap. 99, E-03080, Alicante, Spain; Biochemistry, Molecular Biology, Edaphology and Agricultural Chemistry Department, Faculty of Sciences, University of Alicante, Ap. 99, E-03080 Alicante, Spain.
Article Synopsis
- - This study focuses on improving the methodology for using single particle inductively coupled plasma mass spectrometry (spICP-MS) to analyze biogenic selenium nanoparticles (SeNPs) created by halophilic microorganisms, particularly in hypersaline environments.
- - The research found that, with the right conditions, spICP-MS can accurately measure SeNPs in high-salt solutions without needing correction factors, and the technique showed low detection limits for both size and concentration.
- - The results confirmed that the microorganism Haloferax mediterranei can produce SeNPs in the presence of selenite, while selenate does not lead to particle formation, with size and concentration varying based on the experimental conditions.
Fatty acid abnormalities in cystic fibrosis-the missing link for a cure?
iScience
November 2024
CLINTEC, Karolinska Institutet NOVUM, Stockholm, Sweden.
Article Synopsis
- The introduction of modulators, correctors, and potentiators for the CFTR molecule has significantly improved the health of most individuals with cystic fibrosis (CF).
- While these therapies impact certain fatty acids, they do not address linoleic acid (LA) deficiency, which is linked to more severe forms of CF.
- The review examines lipid abnormalities in CF patients, such as altered phospholipid and cholesterol levels, and their connection to clinical symptoms, revealing these lipid issues can manifest before birth.
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