CFTR Folding: From Structure and Proteostasis to Cystic Fibrosis Personalized Medicine

EF McDonald, J Meiler, L Plate - ACS Chemical Biology, 2023 - ACS Publications
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 …

Functional consequences of CFTR interactions in cystic fibrosis

Y Ramananda, AP Naren, K Arora - International Journal of Molecular …, 2024 - mdpi.com
Cystic fibrosis (CF) is a fatal autosomal recessive disorder caused by the loss of function
mutations within a single gene for the Cystic Fibrosis Transmembrane Conductance …

General trends in the effects of VX-661 and VX-445 on the plasma membrane expression of clinical CFTR variants

AG McKee, EF McDonald, WD Penn, CP Kuntz… - Cell Chemical …, 2023 - cell.com
Cystic fibrosis (CF) is caused by mutations that compromise the expression and/or function
of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel. Most …

Elexacaftor/VX-445–mediated CFTR interactome remodeling reveals differential correction driven by mutation-specific translational dynamics

M Kim, EF McDonald, CMP Sabusap… - Journal of Biological …, 2023 - ASBMB
Cystic fibrosis (CF) is one of the most prevalent lethal genetic diseases with over 2000
identified mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) …

[HTML][HTML] Identification of novel F508del-CFTR traffic correctors among triazole derivatives

M Bacalhau, FC Ferreira, A Kmit, FR Souza… - European Journal of …, 2023 - Elsevier
The most prevalent cystic fibrosis (CF)-causing mutation–F508del–impairs the folding of
CFTR protein, resulting in its defective trafficking and premature degradation. Small …

CFTR modulators rescue the activity of CFTR in colonoids expressing the complex allele p.[R74W; V201M; D1270N]/dele22_24

K Kleinfelder, E Somenza, A Farinazzo, J Conti… - International Journal of …, 2023 - mdpi.com
An Italian, 46-year-old female patient carrying the complex allele p.[R74W; V201M; D1270N]
in trans with CFTR dele22_24 was diagnosed at the Cystic Fibrosis (CF) Center of Verona …

Personalized medicine: Function of CFTR variant p. Arg334Trp is rescued by currently available CFTR modulators

V Railean, CS Rodrigues, SS Ramalho… - Frontiers in Molecular …, 2023 - frontiersin.org
Most of the 2,100 CFTR gene variants reported to date are still unknown in terms of their
disease liability in Cystic Fibrosis (CF) and their molecular and cellular mechanism that …

Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction

S Zacarias, MSP Batista, SS Ramalho… - International Journal of …, 2023 - mdpi.com
Cystic Fibrosis (CF) is a genetic disease caused by mutations in the gene encoding the
Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) channel. Currently, more …

In silico analysis and theratyping of an ultra-rare CFTR genotype (W57G/A234D) in primary human rectal and nasal epithelial cells

K Kleinfelder, V Lotti, A Eramo, F Amato, SL Cicero… - Iscience, 2023 - cell.com
Mutation targeted therapy in cystic fibrosis (CF) is still not eligible for all CF subjects,
especially for cases carrying rare variants such as the CFTR genotype W57G/A234D (c …

Advances in cystic fibrosis research in Qatar: A commentary

S Hammoudeh, IA Janahi - Journal of Personalized Medicine, 2023 - mdpi.com
Cystic fibrosis is a genetic disorder caused by a Cystic Fibrosis Transmembrane
Conductance Regulator (CFTR) gene defect. Many across the globe suffer the debilitating …