Structural mechanisms of CFTR function and dysfunction
Cystic fibrosis (CF) transmembrane conductance regulator (CFTR) chloride channel plays a
critical role in regulating transepithelial movement of water and electrolyte in exocrine …
critical role in regulating transepithelial movement of water and electrolyte in exocrine …
Molecular structures reveal synergistic rescue of Δ508 CFTR by Trikafta modulators
K Fiedorczuk, J Chen - Science, 2022 - science.org
The predominant mutation causing cystic fibrosis, a deletion of phenylalanine 508 (Δ508) in
the cystic fibrosis transmembrane conductance regulator (CFTR), leads to severe defects in …
the cystic fibrosis transmembrane conductance regulator (CFTR), leads to severe defects in …
[HTML][HTML] One size does not fit all: the past, present and future of cystic fibrosis causal therapies
MM Ensinck, MS Carlon - Cells, 2022 - mdpi.com
Cystic fibrosis (CF) is the most common monogenic disorder, caused by mutations in the CF
transmembrane conductance regulator (CFTR) gene. Over the last 30 years, tremendous …
transmembrane conductance regulator (CFTR) gene. Over the last 30 years, tremendous …
Structural basis of substrate recognition by the multidrug resistance protein MRP1
ZL Johnson, J Chen - Cell, 2017 - cell.com
The multidrug resistance protein MRP1 is an ATP-binding cassette (ABC) transporter that
confers resistance to many anticancer drugs and plays a role in the disposition and efficacy …
confers resistance to many anticancer drugs and plays a role in the disposition and efficacy …
[HTML][HTML] Atomic structure of the cystic fibrosis transmembrane conductance regulator
The cystic fibrosis transmembrane conductance regulator (CFTR) is an anion channel
evolved from the ATP-binding cassette (ABC) transporter family. In this study, we determined …
evolved from the ATP-binding cassette (ABC) transporter family. In this study, we determined …
Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis
A Schneider, J Larusch, X Sun, A Aloe, J Lamb… - Gastroenterology, 2011 - Elsevier
BACKGROUND & AIMS: Idiopathic chronic pancreatitis (ICP) is a complex inflammatory
disorder associated with multiple genetic and environmental factors. In individuals without …
disorder associated with multiple genetic and environmental factors. In individuals without …
The etiology of acute recurrent pancreatitis in children: a challenge for pediatricians
V Lucidi, F Alghisi, L Dall'Oglio, MR D'Apice, L Monti… - Pancreas, 2011 - journals.lww.com
Objectives: To assess specific etiologies of acute recurrent pancreatitis at a single Italian
pediatric cystic fibrosis (CF) center. Methods: We studied, retrospectively, 78 young patients …
pediatric cystic fibrosis (CF) center. Methods: We studied, retrospectively, 78 young patients …
The CFTR P67L variant reveals a key role for N-terminal lasso helices in channel folding, maturation, and pharmacologic rescue
Patients with cystic fibrosis (CF) harboring the P67L variant in the cystic fibrosis
transmembrane conductance regulator (CFTR) often exhibit a typical CF phenotype …
transmembrane conductance regulator (CFTR) often exhibit a typical CF phenotype …
Selective binding of HSC70 and its co-chaperones to structural hotspots on CFTR
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) channel
cause cystic fibrosis. Chaperones, including HSC70, DNAJA1 and DNAJA2, play key roles …
cause cystic fibrosis. Chaperones, including HSC70, DNAJA1 and DNAJA2, play key roles …
Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients
AS Ramalho, MA Lewandowska, CM Farinha… - Cellular Physiology and …, 2009 - karger.com
Abstract Background/Aims: Mutations in the CFTR gene cause Cystic Fibrosis (CF) the most
common life-threatening autosomal recessive disease affecting Caucasians. We identified a …
common life-threatening autosomal recessive disease affecting Caucasians. We identified a …