CFTR transmembrane segments are impaired in their conformational adaptability by a pathogenic loop mutation and dynamically stabilized by Lumacaftor
G Krainer, M Schenkel, A Hartmann… - Journal of Biological …, 2020 - ASBMB
The cystic fibrosis transmembrane conductance regulator (CFTR) is an ion channel protein
that is defective in individuals with cystic fibrosis (CF). To advance the rational design of CF …
that is defective in individuals with cystic fibrosis (CF). To advance the rational design of CF …
[HTML][HTML] Impact of cholesterol and Lumacaftor on the folding of CFTR helical hairpins
M Schenkel, D Ravamehr-Lake, T Czerniak… - … et Biophysica Acta (BBA …, 2023 - Elsevier
Cystic fibrosis (CF) is caused by mutations in the gene that codes for the chloride channel
cystic fibrosis transmembrane conductance regulator (CFTR). Recent advances in CF …
cystic fibrosis transmembrane conductance regulator (CFTR). Recent advances in CF …
A minimal helical-hairpin motif provides molecular-level insights into misfolding and pharmacological rescue of CFTR
Our meagre understanding of CFTR misfolding and its reversal by small-molecule correctors
hampers the development of mechanism-based therapies of cystic fibrosis. Here we exploit …
hampers the development of mechanism-based therapies of cystic fibrosis. Here we exploit …
[HTML][HTML] CFTR: New insights into structure and function and implications for modulation by small molecules
Structural biology and functional studies are a powerful combination to elucidate
fundamental knowledge about the cystic fibrosis transmembrane conductance regulator …
fundamental knowledge about the cystic fibrosis transmembrane conductance regulator …
CFTR Folding: From Structure and Proteostasis to Cystic Fibrosis Personalized Medicine
Cystic fibrosis (CF) is a lethal genetic disease caused by mutations in the chloride ion
channel cystic fibrosis transmembrane conductance regulator (CFTR). Class-II mutants of …
channel cystic fibrosis transmembrane conductance regulator (CFTR). Class-II mutants of …
Role of the extracellular loop in the folding of a CFTR transmembrane helical hairpin
H Wehbi, A Rath, M Glibowicka, CM Deber - Biochemistry, 2007 - ACS Publications
The folding of membrane-spanning domains into their native functional forms depends on
interactions between transmembrane (TM) helices joined by covalent loops. However, the …
interactions between transmembrane (TM) helices joined by covalent loops. However, the …
Mechanism of dual pharmacological correction and potentiation of human CFTR
C Wang, Z Yang, BJ Loughlin, H Xu, G Veit, S Vorobiev… - bioRxiv, 2022 - biorxiv.org
Cystic fibrosis (CF) is caused by mutations in a chloride channel called the human Cystic
Fibrosis Transmembrane Conductance Regulator (hCFTR). We used cryo-EM global …
Fibrosis Transmembrane Conductance Regulator (hCFTR). We used cryo-EM global …
[HTML][HTML] Towards next generation therapies for cystic fibrosis: folding, function and pharmacology of CFTR
The treatment of cystic fibrosis (CF) has been transformed by orally-bioavailable small
molecule modulators of the cystic fibrosis transmembrane conductance regulator (CFTR) …
molecule modulators of the cystic fibrosis transmembrane conductance regulator (CFTR) …
[HTML][HTML] Positional dependence of non-native polar mutations on folding of CFTR helical hairpins
H Wehbi, G Gasmi-Seabrook, MY Choi… - Biochimica et Biophysica …, 2008 - Elsevier
Mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) cause CF
disease by altering the biosynthesis, maturation, folding and ion conductance of this protein …
disease by altering the biosynthesis, maturation, folding and ion conductance of this protein …
[HTML][HTML] Structural effects of extracellular loop mutations in CFTR helical hairpins
Missense mutations constitute 40% of 2000 cystic fibrosis-phenotypic mutations in the cystic
fibrosis transmembrane conductance regulator (CFTR) database, yet the precise …
fibrosis transmembrane conductance regulator (CFTR) database, yet the precise …