摘要: The key defect in cystic fibrosis is loss of chloride conductance, but mutations of the cystic fibrosis gene product, the CFTR, have multiple effects on cell physiology; new results help to reconcile these facts.关键词: vasoactive intestinal peptide VIP, hybrid antagonist hybrid peptides ...
Understanding how cystic fibrosis mutations disrupt CFTR function: from single molecules to animal models. Int J Biochem Cell Biol. 2014;52:47–57.Wang Y, Wrennall JA, Cai Z, Li H, Sheppard DN. Understanding how cystic fibrosis mutations disrupt CFTR function: from single molecules to animal ...
The cystic fibrosis transmembrane conductance regulator (CFTR) acts as a channel on the apical membrane of epithelia. Disease-causing mutations in the cystic fibrosis gene can lead to CFTR protein misfolding as in the case of the F508del mutation and/or channel dysfunction. Recently, a small mol...
we are going to uncover how TRIKAFTA targets the underlying cause of cystic fibrosis, or CF, in patients age 2 years and older who have at least one copy of the F508del mutation in the cystic fibrosis transmembrane conductance regulator, or CFTR, gene or another mutation that is responsive ...
A silent mutation is one that does not change the amino acid sequence encoded by a gene. The name reflects the common-sense assumption that silent mutations have no effect on phenotype. But the process of synthesizing proteins from the information in DNA is more complicated than simply reading ...
it could be cured by replacing this gene. For example, incystic fibrosis, a mutation in the gene that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein causes the disease. Replacing it in mucosalcellswith a copy that does not carry the mutation could reverse this...
Gelfond D, Heltshe S, Ma C, Rowe SM, Frederick C, Uluer A, Sicilian L, Konstan M, Tullis E, Roach RN, Griffin K, Joseloff E, Borowitz D (2017) Impact of CFTR modulation on intestinal pH, motility, and clinical outcomes in patients with cystic fibrosis and the G551D mutation. ...
Understanding how cystic fibrosis mutations disrupt CFTR function: from single molecules to animal models. Int J Biochem Cell Biol 2014;52:47-57.Y. Wang, J. A. Wrennall, Z. Cai, H. Li, D. N. Sheppard, Understanding how cystic fibrosis mutations disrupt CFTR function: from single ...
CFTR Modulator Therapy Improves Cystic Fibrosis-Related Diabetes. But How?doi:10.1016/j.jdiacomp.2021.107887Christine M. BojanowskiSarah M. WilsonRoss C. KlingsbergJournal of Diabetes and its Complications
Amaral MD. Targeting CFTR: how to treat cystic fibrosis by CFTR-repairing therapies. Curr Drug Targets. 2011; 12 :683–693. doi: 10.2174/138945011795378586. [ PubMed ] [ Cross Ref ]Amaral MD. Targeting CFTR: How to treat cystic fibrosis by CFTR-repairing therapies. Curr Drug Targets. 2011...