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View article: Rescue of Mutant CFTR Channel Activity by Investigational Co-Potentiator Therapy
Rescue of Mutant CFTR Channel Activity by Investigational Co-Potentiator Therapy Open
Background: The potentiator VX-770 (ivacaftor) has been approved as a monotherapy for over 95 cystic fibrosis (CF)-causing variants associated with gating/conductance defects of the CF transmembrane conductance regulator (CFTR) channel. Ho…
View article: PTI-801 (posenacaftor) shares a common mechanism with VX-445 (elexacaftor) to rescue p.Phe508del-CFTR
PTI-801 (posenacaftor) shares a common mechanism with VX-445 (elexacaftor) to rescue p.Phe508del-CFTR Open
The deletion of a phenylalanine at position 508 (p.Phe508del) in the CFTR anion channel is the most prevalent variant in people with Cystic Fibrosis (CF). This variant impairs folding and stability of the CF transmembrane conductance regul…
View article: Laboratory Tools to Predict CFTR Modulator Therapy Effectiveness and to Monitor Disease Severity in Cystic Fibrosis
Laboratory Tools to Predict CFTR Modulator Therapy Effectiveness and to Monitor Disease Severity in Cystic Fibrosis Open
The implementation of cystic fibrosis (CF) transmembrane conductance regulator (CFTR) modulator drugs into clinical practice has been attaining remarkable therapeutic outcomes for CF, a life-threatening autosomal recessive genetic disease.…
View article: Elexacaftor-Tezacaftor-Ivacaftor: A Life-Changing Triple Combination of CFTR Modulator Drugs for Cystic Fibrosis
Elexacaftor-Tezacaftor-Ivacaftor: A Life-Changing Triple Combination of CFTR Modulator Drugs for Cystic Fibrosis Open
Cystic fibrosis (CF) is a potentially fatal monogenic disease that causes a progressive multisystemic pathology. Over the last decade, the introduction of CF transmembrane conductance regulator (CFTR) modulator drugs into clinical practice…
View article: Additive Potentiation of R334W-CFTR Function by Novel Small Molecules
Additive Potentiation of R334W-CFTR Function by Novel Small Molecules Open
The R334W (c.1000C>T, p.Arg334Trp) is a rare cystic fibrosis (CF)-causing mutation for which no causal therapy is currently approved. This mutation leads to a significant reduction of CF transmembrane conductance regulator (CFTR) channel c…
View article: Efficient Synthesis of 4-Acyl-1,2,3-Triazoles from Acetophenones and Aryl Azides: A Synthetic Shortcut for Novel p.Phe508del-CFTR Traffic Correctors
Efficient Synthesis of 4-Acyl-1,2,3-Triazoles from Acetophenones and Aryl Azides: A Synthetic Shortcut for Novel p.Phe508del-CFTR Traffic Correctors Open
View article: Identification of novel F508del-CFTR traffic correctors among triazole derivatives
Identification of novel F508del-CFTR traffic correctors among triazole derivatives Open
The most prevalent cystic fibrosis (CF)-causing mutation - F508del - impairs the folding of CFTR protein, resulting in its defective trafficking and premature degradation. Small molecules termed correctors may rescue F508del-CFTR and there…
View article: Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A
Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A Open
Although some therapeutic progress has been achieved in developing small molecules that correct F508del-CFTR defects, the mechanism of action (MoA) of these compounds remain poorly elucidated. Here, we investigated the effects and MoA of M…
View article: P026 Characterisation of F508del-CFTR rescue by corrector MCG1516A
P026 Characterisation of F508del-CFTR rescue by corrector MCG1516A Open
View article: P028 Identification of novel F508del-CFTR correctors among triazole derivative compounds
P028 Identification of novel F508del-CFTR correctors among triazole derivative compounds Open
View article: Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant Open