CFTR

Summary

Gene Symbol: CFTR
Description: cystic fibrosis transmembrane conductance regulator
Alias: ABC35, ABCC7, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1, cystic fibrosis transmembrane conductance regulator, cAMP-dependent chloride channel, channel conductance-controlling ATPase, cystic fibrosis transmembrane conductance regulating, cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Species: human
Products:     CFTR

Top Publications

  1. Vij N, Fang S, Zeitlin P. Selective inhibition of endoplasmic reticulum-associated degradation rescues DeltaF508-cystic fibrosis transmembrane regulator and suppresses interleukin-8 levels: therapeutic implications. J Biol Chem. 2006;281:17369-78 pubmed
    ..The most common disease-causing protein folding mutation, DeltaF508-cystic fibrosis transmembrane regulator (CFTR), is destroyed by ERAD to cause cystic fibrosis (CF)...
  2. Aleksandrov A, Cui L, Riordan J. Relationship between nucleotide binding and ion channel gating in cystic fibrosis transmembrane conductance regulator. J Physiol. 2009;587:2875-86 pubmed publisher
    ..analysis to characterize the dynamic events involved in the allosteric regulation of cystic fibrosis transmembrane conductance regulator (CFTR) function...
  3. Rubenstein R, Zeitlin P. Sodium 4-phenylbutyrate downregulates Hsc70: implications for intracellular trafficking of DeltaF508-CFTR. Am J Physiol Cell Physiol. 2000;278:C259-67 pubmed
    The most common mutation of the cystic fibrosis transmembrane conductance regulator (CFTR), DeltaF508, is a trafficking mutant that has prolonged associations with molecular chaperones and is rapidly degraded, at least in part by the ..
  4. Rosser M, Grove D, Chen L, Cyr D. Assembly and misassembly of cystic fibrosis transmembrane conductance regulator: folding defects caused by deletion of F508 occur before and after the calnexin-dependent association of membrane spanning domain (MSD) 1 and MSD2. Mol Biol Cell. 2008;19:4570-9 pubmed publisher
    b>Cystic fibrosis transmembrane conductance regulator (CFTR) is a polytopic membrane protein that functions as a Cl(-) channel and consists of two membrane spanning domains (MSDs), two cytosolic nucleotide binding domains (NBDs), and a ..
  5. DeCarvalho A, Gansheroff L, Teem J. Mutations in the nucleotide binding domain 1 signature motif region rescue processing and functional defects of cystic fibrosis transmembrane conductance regulator delta f508. J Biol Chem. 2002;277:35896-905 pubmed
    The gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR), an ATP binding cassette (ABC) transporter that functions as a phosphorylation- and nucleotide-regulated chloride channel, is mutated in cystic fibrosis (CF)..
  6. Penmatsa H, Zhang W, Yarlagadda S, Li C, Conoley V, Yue J, et al. Compartmentalized cyclic adenosine 3',5'-monophosphate at the plasma membrane clusters PDE3A and cystic fibrosis transmembrane conductance regulator into microdomains. Mol Biol Cell. 2010;21:1097-110 pubmed publisher
    ..that phosphodiesterase type 3A (PDE3A) physically and functionally interacts with cystic fibrosis transmembrane conductance regulator (CFTR) channel...
  7. Rosenberg M, Kamis A, Aleksandrov L, Ford R, Riordan J. Purification and crystallization of the cystic fibrosis transmembrane conductance regulator (CFTR). J Biol Chem. 2004;279:39051-7 pubmed
    The cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein that is mutated in patients suffering from cystic fibrosis. Here we report the purification and first crystallization of wild-type human CFTR...
  8. Haggie P, Kim J, Lukacs G, Verkman A. Tracking of quantum dot-labeled CFTR shows near immobilization by C-terminal PDZ interactions. Mol Biol Cell. 2006;17:4937-45 pubmed
    Mutations in cystic fibrosis transmembrane conductance regulator (CFTR), a cAMP-regulated chloride channel, cause cystic fibrosis...
  9. Grove D, Rosser M, Ren H, Naren A, Cyr D. Mechanisms for rescue of correctable folding defects in CFTRDelta F508. Mol Biol Cell. 2009;20:4059-69 pubmed publisher
    ..Some, but not all, folding defects in CFTRDeltaF508 are correctable. CHIP and RMA1 recognize different regions of CFTR and a large pool of nascent CFTRDeltaF508 is ubiquitinated by RMA1 before Corr-4a action...

More Information

Publications81

  1. Okiyoneda T, Harada K, Takeya M, Yamahira K, Wada I, Shuto T, et al. Delta F508 CFTR pool in the endoplasmic reticulum is increased by calnexin overexpression. Mol Biol Cell. 2004;15:563-74 pubmed
    The most common cystic fibrosis transmembrane conductance regulator (CFTR) mutant in cystic fibrosis patients, Delta F508 CFTR, is retained in the endoplasmic reticulum (ER) and is consequently degraded by the ubiquitin-proteasome ..
  2. Arndt V, Daniel C, Nastainczyk W, Alberti S, Hohfeld J. BAG-2 acts as an inhibitor of the chaperone-associated ubiquitin ligase CHIP. Mol Biol Cell. 2005;16:5891-900 pubmed
    ..on which the chaperone Hsc70 delivers chaperone clients, such as misfolded forms of the cystic fibrosis transmembrane conductance regulator (CFTR), to the proteasome...
  3. Zhang L, Aleksandrov L, Riordan J, Ford R. Domain location within the cystic fibrosis transmembrane conductance regulator protein investigated by electron microscopy and gold labelling. Biochim Biophys Acta. 2011;1808:399-404 pubmed publisher
    The domain organisation of the cystic fibrosis transmembrane conductance regulator (CFTR) protein was studied using electron microscopy of detergent-solubilised dimeric complexes...
  4. Randak C, Welsh M. An intrinsic adenylate kinase activity regulates gating of the ABC transporter CFTR. Cell. 2003;115:837-50 pubmed
    b>Cystic fibrosis transmembrane conductance regulator (CFTR) is an anion channel in the ATP binding cassette (ABC) transporter family. Like other ABC transporters, it can hydrolyze ATP...
  5. Enquist K, Fransson M, Boekel C, Bengtsson I, Geiger K, Lang L, et al. Membrane-integration characteristics of two ABC transporters, CFTR and P-glycoprotein. J Mol Biol. 2009;387:1153-64 pubmed publisher
    ..adenosine triphosphate-binding cassette (ABC) transporters, P-glycoprotein (P-gp) and the cystic fibrosis transmembrane conductance regulator (CFTR)...
  6. Kirk K, Wang W. A unified view of cystic fibrosis transmembrane conductance regulator (CFTR) gating: combining the allosterism of a ligand-gated channel with the enzymatic activity of an ATP-binding cassette (ABC) transporter. J Biol Chem. 2011;286:12813-9 pubmed publisher
    The cystic fibrosis transmembrane conductance regulator (CFTR) is a unique ion channel in that its gating is coupled to an intrinsic enzymatic activity (ATP hydrolysis)...
  7. Mornon J, Lehn P, Callebaut I. Molecular models of the open and closed states of the whole human CFTR protein. Cell Mol Life Sci. 2009;66:3469-86 pubmed publisher
    b>Cystic fibrosis transmembrane conductance regulator (CFTR), involved in cystic fibrosis (CF), is a chloride channel belonging to the ATP-binding cassette (ABC) superfamily...
  8. King J, Fitch A, Lee J, McCane J, Mak D, Foskett J, et al. AMP-activated protein kinase phosphorylation of the R domain inhibits PKA stimulation of CFTR. Am J Physiol Cell Physiol. 2009;297:C94-101 pubmed publisher
    ..We previously found that AMPK binds to and phosphorylates CFTR in vitro and inhibits PKA-dependent stimulation of CFTR channel gating in Calu-3 bronchial serous gland epithelial ..
  9. Silvis M, Bertrand C, Ameen N, Golin Bisello F, Butterworth M, Frizzell R, et al. Rab11b regulates the apical recycling of the cystic fibrosis transmembrane conductance regulator in polarized intestinal epithelial cells. Mol Biol Cell. 2009;20:2337-50 pubmed publisher
    The cystic fibrosis transmembrane conductance regulator (CFTR), a cAMP/PKA-activated anion channel, undergoes efficient apical recycling in polarized epithelia...
  10. Hutt D, Roth D, Chalfant M, Youker R, Matteson J, Brodsky J, et al. FK506 binding protein 8 peptidylprolyl isomerase activity manages a late stage of cystic fibrosis transmembrane conductance regulator (CFTR) folding and stability. J Biol Chem. 2012;287:21914-25 pubmed publisher
    Cystic fibrosis (CF) is caused by mutations in the apical chloride channel cystic fibrosis transmembrane conductance regulator (CFTR) with 90% of patients carrying at least one deletion of the F508 (?F508) allele...
  11. Ousingsawat J, Kongsuphol P, Schreiber R, Kunzelmann K. CFTR and TMEM16A are separate but functionally related Cl- channels. Cell Physiol Biochem. 2011;28:715-24 pubmed publisher
    Previous reports point out to a functional relationship of the cystic fibrosis transmembrane conductance regulator (CFTR) and Ca(2+) activated Cl(-) channels (CaCC)...
  12. Rabeh W, Bossard F, Xu H, Okiyoneda T, Bagdany M, Mulvihill C, et al. Correction of both NBD1 energetics and domain interface is required to restore ?F508 CFTR folding and function. Cell. 2012;148:150-63 pubmed publisher
    ..thermodynamic instability of the first nucleotide-binding domain (NBD1) of ?F508 CFTR (cystic fibrosis transmembrane conductance regulator) partly accounts for the mutant channel degradation in the endoplasmic reticulum and is ..
  13. Ahner A, Gong X, Schmidt B, Peters K, Rabeh W, Thibodeau P, et al. Small heat shock proteins target mutant cystic fibrosis transmembrane conductance regulator for degradation via a small ubiquitin-like modifier-dependent pathway. Mol Biol Cell. 2013;24:74-84 pubmed publisher
    ..F508del cystic fibrosis transmembrane conductance regulator (CFTR), a well-studied protein that is subject to cytosolic quality control, selectively ..
  14. Hunter M, Treharne K, Winter A, Cassidy D, Land S, Mehta A. Expression of wild-type CFTR suppresses NF-kappaB-driven inflammatory signalling. PLoS ONE. 2010;5:e11598 pubmed publisher
    Mutation of the cystic fibrosis transmembrane-conductance regulator (CFTR) causes cystic fibrosis (CF) but not all CF aspects can easily be explained by deficient ion transport...
  15. Frizzell R, Hanrahan J. Physiology of epithelial chloride and fluid secretion. Cold Spring Harb Perspect Med. 2012;2:a009563 pubmed publisher
    ..the volume and/or composition of secreted luminal fluids are compromised owing to mutations in the gene encoding CFTR, the apical membrane anion channel that is responsible for salt secretion in response to cAMP/PKA stimulation...
  16. Yu J, Chen Z, Ni Y, Li Z. CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis. Hum Reprod. 2012;27:25-35 pubmed publisher
    Numerous studies have reported CFTR mutations in CBAVD (congenital bilateral absence of the vas deferens) patients, but their results are not completely consistent...
  17. Rab A, Rowe S, Raju S, Bebok Z, Matalon S, Collawn J. Cigarette smoke and CFTR: implications in the pathogenesis of COPD. Am J Physiol Lung Cell Mol Physiol. 2013;305:L530-41 pubmed publisher
    ..CF is a genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene encoding a chloride and bicarbonate channel (CFTR), leading to CFTR dysfunction...
  18. Cihil K, Ellinger P, Fellows A, Stolz D, Madden D, Swiatecka Urban A. Disabled-2 protein facilitates assembly polypeptide-2-independent recruitment of cystic fibrosis transmembrane conductance regulator to endocytic vesicles in polarized human airway epithelial cells. J Biol Chem. 2012;287:15087-99 pubmed publisher
    b>Cystic fibrosis transmembrane conductance regulator (CFTR) is a cAMP-activated Cl(-) channel expressed in the apical plasma membrane of fluid-transporting epithelia, where the plasma membrane abundance of CFTR is in part controlled by ..
  19. Sorio C, Buffelli M, Angiari C, Ettorre M, Johansson J, Vezzalini M, et al. Defective CFTR expression and function are detectable in blood monocytes: development of a new blood test for cystic fibrosis. PLoS ONE. 2011;6:e22212 pubmed publisher
    Evaluation of cystic fibrosis transmembrane conductance regulator (CFTR) functional activity to assess new therapies and define diagnosis of cystic fibrosis (CF) is cumbersome...
  20. Moniz S, Sousa M, Moraes B, Mendes A, Palma M, Barreto C, et al. HGF stimulation of Rac1 signaling enhances pharmacological correction of the most prevalent cystic fibrosis mutant F508del-CFTR. ACS Chem Biol. 2013;8:432-42 pubmed publisher
    ..disease leading to severe respiratory symptoms, is caused by mutations in CF transmembrane conductance regulator (CFTR), a chloride (Cl(-)) channel expressed at the apical membrane of epithelial cells...
  21. Koeppen K, Chapline C, Sato J, Stanton B. Nedd4-2 does not regulate wt-CFTR in human airway epithelial cells. Am J Physiol Lung Cell Mol Physiol. 2012;303:L720-7 pubmed publisher
    The cystic fibrosis transmembrane conductance regulator (CFTR), a Cl(-) channel in airway epithelial cells, plays an important role in maintaining the volume of the airway surface liquid and therefore mucociliary clearance of respiratory ..
  22. Clunes L, Davies C, Coakley R, Aleksandrov A, Henderson A, Zeman K, et al. Cigarette smoke exposure induces CFTR internalization and insolubility, leading to airway surface liquid dehydration. FASEB J. 2012;26:533-45 pubmed publisher
    ..We, therefore, tested the hypothesis that CS exerts direct effects on the CFTR protein, which could impair airway hydration, leading to the mucus stasis characteristic of both cystic fibrosis ..
  23. Sosnay P, Siklosi K, Van Goor F, Kaniecki K, Yu H, Sharma N, et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet. 2013;45:1160-7 pubmed publisher
    ..Few of the almost 2,000 variants in the cystic fibrosis transmembrane conductance regulator gene CFTR have empirical evidence that they cause cystic fibrosis...
  24. Gonska T, Choi P, Stephenson A, Ellis L, Martin S, Solomon M, et al. Role of cystic fibrosis transmembrane conductance regulator in patients with chronic sinopulmonary disease. Chest. 2012;142:996-1004 pubmed publisher
    ..studies report a high frequency of mutations in the cystic fibrosis (CF) transmembrane conductance regulator gene (CFTR) in patients with idiopathic bronchiectasis...
  25. Qadri Y, Cormet Boyaka E, Rooj A, Lee W, Parpura V, Fuller C, et al. Low temperature and chemical rescue affect molecular proximity of DeltaF508-cystic fibrosis transmembrane conductance regulator (CFTR) and epithelial sodium channel (ENaC). J Biol Chem. 2012;287:16781-90 pubmed publisher
    ..The cftr gene codes for a Cl(-) channel, the cystic fibrosis transmembrane conductance regulator (CFTR)...
  26. Gillen A, Harris A. Transcriptional regulation of CFTR gene expression. Front Biosci (Elite Ed). 2012;4:587-92 pubmed
    Cystic Fibrosis results from mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene...
  27. Zhou Y, Song K, Painter R, Aiken M, Reiser J, Stanton B, et al. Cystic fibrosis transmembrane conductance regulator recruitment to phagosomes in neutrophils. J Innate Immun. 2013;5:219-30 pubmed publisher
    ..Chloride transport from cytoplasm into phagosomes requires chloride channels which include cystic fibrosis transmembrane conductance regulator (CFTR), a cAMP-activated chloride channel...
  28. Lima C, Ortega M, Marson F, Zulli R, Ribeiro A, Bertuzzo C. Cystic fibrosis transmembrane conductance regulator gene mutations and glutathione S-transferase null genotypes in cystic fibrosis patients in Brazil. J Bras Pneumol. 2012;38:50-6 pubmed
    To determine the effects that mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and deletion of the glutathione S-transferase (GST) genes mu-1 (GSTM1) and theta-1 (GSTT1) have on the clinical course of ..
  29. Rosendahl J, Landt O, Bernadova J, Kovacs P, Teich N, Bodeker H, et al. CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?. Gut. 2013;62:582-92 pubmed publisher
    ..PRSS1, SPINK1 and CTRC were analysed by DNA sequencing, and cystic fibrosis transmembrane conductance regulator (CFTR) by melting curve analysis. Frequencies of CFTR variants p.R75Q, p...
  30. Bomberger J, Coutermarsh B, Barnaby R, Stanton B. Arsenic promotes ubiquitinylation and lysosomal degradation of cystic fibrosis transmembrane conductance regulator (CFTR) chloride channels in human airway epithelial cells. J Biol Chem. 2012;287:17130-9 pubmed publisher
    ..model organism, that arsenic exposure induced the ubiquitinylation and degradation of cystic fibrosis transmembrane conductance regulator (CFTR), a chloride channel that is essential for the mucociliary clearance of respiratory ..
  31. Ren H, Grove D, De La Rosa O, Houck S, Sopha P, Van Goor F, et al. VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1. Mol Biol Cell. 2013;24:3016-24 pubmed publisher
    ..of lung airways due to the loss of chloride transport through the CF transmembrane conductance regulator protein (CFTR)...
  32. Li H, Wen Q, Li H, Zhao L, Zhang X, Wang J, et al. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens. J Cyst Fibros. 2012;11:316-23 pubmed publisher
    Genetic testing of the cystic fibrosis transmembrane conductance (CFTR) gene is currently performed in patients with congenital bilateral absence of vas deferens (CBAVD)...
  33. Rishishwar L, Varghese N, Tyagi E, Harvey S, Jordan I, McCarty N. Relating the disease mutation spectrum to the evolution of the cystic fibrosis transmembrane conductance regulator (CFTR). PLoS ONE. 2012;7:e42336 pubmed publisher
    ..Cystic fibrosis (CF) is the most common genetic disease among Caucasians, and accordingly the cystic fibrosis transmembrane conductance regulator (CFTR) protein has perhaps the best characterized disease mutation spectrum with more than ..
  34. Veit G, Bossard F, Goepp J, Verkman A, Galietta L, Hanrahan J, et al. Proinflammatory cytokine secretion is suppressed by TMEM16A or CFTR channel activity in human cystic fibrosis bronchial epithelia. Mol Biol Cell. 2012;23:4188-202 pubmed publisher
    Cystic fibrosis (CF) is caused by the functional expression defect of the CF transmembrane conductance regulator (CFTR) chloride channel at the apical plasma membrane...
  35. Jih K, Hwang T. Vx-770 potentiates CFTR function by promoting decoupling between the gating cycle and ATP hydrolysis cycle. Proc Natl Acad Sci U S A. 2013;110:4404-9 pubmed publisher
    ..to therapeutics directly tackling the root of the disease: functional defects of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel caused by pathogenic mutations...
  36. Norimatsu Y, Ivetac A, Alexander C, Kirkham J, O Donnell N, Dawson D, et al. Cystic fibrosis transmembrane conductance regulator: a molecular model defines the architecture of the anion conduction path and locates a "bottleneck" in the pore. Biochemistry. 2012;51:2199-212 pubmed publisher
    We developed molecular models for the cystic fibrosis transmembrane conductance regulator chloride channel based on the prokaryotic ABC transporter, Sav1866...
  37. Dong Q, Ostedgaard L, Rogers C, Vermeer D, Zhang Y, Welsh M. Human-mouse cystic fibrosis transmembrane conductance regulator (CFTR) chimeras identify regions that partially rescue CFTR-?F508 processing and alter its gating defect. Proc Natl Acad Sci U S A. 2012;109:917-22 pubmed publisher
    The ?F508 mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene is the most common cause of cystic fibrosis...
  38. Rosenberg M, O Ryan L, Hughes G, Zhao Z, Aleksandrov L, Riordan J, et al. The cystic fibrosis transmembrane conductance regulator (CFTR): three-dimensional structure and localization of a channel gate. J Biol Chem. 2011;286:42647-54 pubmed publisher
    ..loss of transmembrane chloride flux due to a lack of a membrane protein channel termed the cystic fibrosis transmembrane conductance regulator (CFTR). We have studied CFTR structure by electron crystallography...
  39. Garnett J, Hickman E, Burrows R, Hegyi P, Tiszlavicz L, Cuthbert A, et al. Novel role for pendrin in orchestrating bicarbonate secretion in cystic fibrosis transmembrane conductance regulator (CFTR)-expressing airway serous cells. J Biol Chem. 2011;286:41069-82 pubmed publisher
    ..epithelial tissues, SLC26 Cl(-)/HCO(3)(-) transporters work in concert with the cystic fibrosis transmembrane conductance regulator (CFTR) to regulate the magnitude and composition of the secreted fluid, a process that is ..
  40. Lukacs G, Verkman A. CFTR: folding, misfolding and correcting the ?F508 conformational defect. Trends Mol Med. 2012;18:81-91 pubmed publisher
    ..in the Caucasian population, is caused by loss-of-function mutations of the CF transmembrane conductance regulator (CFTR), a cyclic AMP-regulated plasma membrane chloride channel...
  41. Xu H, Li H, Xu L, Zhang J, Chen W, Shi Q. The decline of fertility in male uremic patients is correlated with low expression of the cystic fibrosis transmembrane conductance regulator protein (CFTR) in human sperm. Hum Reprod. 2012;27:340-8 pubmed publisher
    ..the possible association between infertility of male uremic patients and expression of the cystic fibrosis transmembrane conductance regulator (CFTR) protein in their sperm. Semen was collected and analyzed...
  42. Sebro R, Levy H, Schneck K, Dimmock D, Raby B, Cannon C, et al. Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency. Clin Genet. 2012;82:546-51 pubmed publisher
    Cystic fibrosis (CF) is a monogenetic disease with a complex phenotype. Over 1500 mutations in the CFTR gene have been identified; however, the p.F508del mutation is most common...
  43. Clancy J, Rowe S, Accurso F, Aitken M, Amin R, Ashlock M, et al. Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation. Thorax. 2012;67:12-8 pubmed publisher
    VX-809, a cystic fibrosis transmembrane conductance regulator (CFTR) modulator, has been shown to increase the cell surface density of functional F508del-CFTR in vitro...
  44. Dekkers J, Wiegerinck C, de Jonge H, Bronsveld I, Janssens H, de Winter de Groot K, et al. A functional CFTR assay using primary cystic fibrosis intestinal organoids. Nat Med. 2013;19:939-45 pubmed publisher
    ..of people suffering from cystic fibrosis, a disease caused by mutations in CFTR, encoding cystic fibrosis transmembrane conductance regulator. Forskolin induces rapid swelling of organoids derived from healthy controls or wild-type ..
  45. Chen J, Jiang X, Chen H, Guo J, Tsang L, Yu M, et al. CFTR negatively regulates cyclooxygenase-2-PGE(2) positive feedback loop in inflammation. J Cell Physiol. 2012;227:2759-66 pubmed publisher
    Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR), a cAMP-dependent anion channel mostly expressed in epithelia...
  46. Valdivieso A, Clauzure M, Marin M, Taminelli G, Massip Copiz M, Sanchez F, et al. The mitochondrial complex I activity is reduced in cells with impaired cystic fibrosis transmembrane conductance regulator (CFTR) function. PLoS ONE. 2012;7:e48059 pubmed publisher
    ..It results from different possible mutations in the CFTR gene, which encodes the CFTR chloride channel...
  47. Prota L, Cebotaru L, Cheng J, Wright J, Vij N, Morales M, et al. Dexamethasone regulates CFTR expression in Calu-3 cells with the involvement of chaperones HSP70 and HSP90. PLoS ONE. 2012;7:e47405 pubmed publisher
    ..is known about the effects of glucocorticoids on the wild-type cystic fibrosis channel transmembrane regulator (CFTR). Our aim was to determine the effects of dexamethasone treatment on wild-type CFTR expression...
  48. Hwang T, Kirk K. The CFTR ion channel: gating, regulation, and anion permeation. Cold Spring Harb Perspect Med. 2013;3:a009498 pubmed publisher
    b>Cystic fibrosis transmembrane conductance regulator (CFTR) is an ATP-gated anion channel with two remarkable distinctions...
  49. Snodgrass S, Cihil K, Cornuet P, MYERBURG M, Swiatecka Urban A. Tgf-?1 inhibits Cftr biogenesis and prevents functional rescue of ?F508-Cftr in primary differentiated human bronchial epithelial cells. PLoS ONE. 2013;8:e63167 pubmed publisher
    b>CFTR is an integral transmembrane glycoprotein and a cAMP-activated Cl(-) channel...
  50. Randak C, Ver Heul A, Welsh M. Demonstration of phosphoryl group transfer indicates that the ATP-binding cassette (ABC) transporter cystic fibrosis transmembrane conductance regulator (CFTR) exhibits adenylate kinase activity. J Biol Chem. 2012;287:36105-10 pubmed publisher
    b>Cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane-spanning adenosine 5'-triphosphate (ATP)-binding cassette (ABC) transporter...
  51. Noe J, Petrusca D, Rush N, Deng P, VanDemark M, Berdyshev E, et al. CFTR regulation of intracellular pH and ceramides is required for lung endothelial cell apoptosis. Am J Respir Cell Mol Biol. 2009;41:314-23 pubmed publisher
    The functional significance of the expression of cystic fibrosis transmembrane regulator (CFTR) on endothelial cells has not yet been elucidated...
  52. CSANADY L, Nairn A, Gadsby D. Thermodynamics of CFTR channel gating: a spreading conformational change initiates an irreversible gating cycle. J Gen Physiol. 2006;128:523-33 pubmed
    b>CFTR is the only ABC (ATP-binding cassette) ATPase known to be an ion channel. Studies of CFTR channel function, feasible with single-molecule resolution, therefore provide a unique glimpse of ABC transporter mechanism...
  53. Wine J, Char J, Chen J, Cho H, Dunn C, Frisbee E, et al. In vivo readout of CFTR function: ratiometric measurement of CFTR-dependent secretion by individual, identifiable human sweat glands. PLoS ONE. 2013;8:e77114 pubmed publisher
    To assess CFTR function in vivo, we developed a bioassay that monitors and compares CFTR-dependent and CFTR-independent sweat secretion in parallel for multiple (~50) individual, identified glands in each subject...
  54. Boyle M, Bell S, Konstan M, McColley S, Rowe S, Rietschel E, et al. A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial. Lancet Respir Med. 2014;2:527-38 pubmed publisher
    The phe508del CFTR mutation causes cystic fibrosis by limiting the amount of CFTR protein that reaches the epithelial cell surface...
  55. Grubb B, O Neal W, Ostrowski L, Kreda S, Button B, Boucher R. Transgenic hCFTR expression fails to correct ?-ENaC mouse lung disease. Am J Physiol Lung Cell Mol Physiol. 2012;302:L238-47 pubmed publisher
    ..1) To determine if transgenic overexpression of wild-type (WT) human CFTR (hCFTR) accelerated Cl(-) secretion and regulated Na(+) absorption in murine airways, we utilized a Clara cell ..
  56. Ni W, Jiang L, Fei Q, Jin J, Yang X, Huang X. The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens. Asian J Androl. 2012;14:687-90 pubmed publisher
    ..vas deferens (CBAVD) is a frequent cause of obstructive azoospermia, and mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene have also been frequently identified in patients with CBAVD...
  57. Teng L, Kerbiriou M, Taiya M, le Hir S, Mignen O, Benz N, et al. Proteomic identification of calumenin as a G551D-CFTR associated protein. PLoS ONE. 2012;7:e40173 pubmed publisher
    ..It is due to mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. To date, over 1910 mutations have been identified in the CFTR gene...
  58. van Meegen M, Terheggen Lagro S, van der Ent C, Beekman J. CFTR expression analysis in human nasal epithelial cells by flow cytometry. PLoS ONE. 2011;6:e27658 pubmed publisher
    ..We here present a flow cytometric procedure to study CFTR expression in human primary nasal epithelial cells from patients with Cystic Fibrosis (CF)...
  59. Liu X, Dawson D. Cystic fibrosis transmembrane conductance regulator: temperature-dependent cysteine reactivity suggests different stable conformers of the conduction pathway. Biochemistry. 2011;50:10311-7 pubmed publisher
    ..been widely used to identify pore-lining residues in mammalian ion channels, including the cystic fibrosis transmembrane conductance regulator (CFTR)...
  60. Kerschner J, Harris A. Transcriptional networks driving enhancer function in the CFTR gene. Biochem J. 2012;446:203-12 pubmed publisher
    A critical cis-regulatory element for the CFTR (cystic fibrosis transmembrane conductance regulator) gene is located in intron 11, 100 kb distal to the promoter, with which it interacts...
  61. Megiorni F, Cialfi S, Dominici C, Quattrucci S, Pizzuti A. Synergistic post-transcriptional regulation of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) by miR-101 and miR-494 specific binding. PLoS ONE. 2011;6:e26601 pubmed publisher
    ..has been observed in Cystic Fibrosis (CF), an autosomal-recessive genetic disorder caused by mutations in the CFTR gene, in which a genotype-phenotype correlation is not always found...
  62. Scott A, Petrykowska H, Hefferon T, Gotea V, Elnitski L. Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene. J Cyst Fibros. 2012;11:511-7 pubmed publisher
    Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Over 1800 CFTR mutations have been reported, and about 12% of mutations are believed to impair pre-mRNA splicing...
  63. Wang W, Linsdell P. Conformational change opening the CFTR chloride channel pore coupled to ATP-dependent gating. Biochim Biophys Acta. 2012;1818:851-60 pubmed publisher
    Opening and closing of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel are controlled by ATP binding and hydrolysis by its nucleotide binding domains (NBDs)...
  64. Wang W, Okeyo G, Tao B, Hong J, Kirk K. Thermally unstable gating of the most common cystic fibrosis mutant channel (?F508): "rescue" by suppressor mutations in nucleotide binding domain 1 and by constitutive mutations in the cytosolic loops. J Biol Chem. 2011;286:41937-48 pubmed publisher
    Most cystic fibrosis (CF) cases are caused by the ?F508 mutation in the CF transmembrane conductance regulator (CFTR), which disrupts both the processing and gating of this chloride channel...
  65. Boudaya M, Fredj S, Haj R, Khrouf M, Bouker A, Halouani L, et al. Cystic fibrosis transmembrane conductance regulator mutations and polymorphisms associated with congenital bilateral absence of vas deferens in a restricted group of patients from North Africa. Ann Hum Biol. 2012;39:76-9 pubmed publisher
    ..Molecular study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene responsible for cystic fibrosis could show the relationship between this ..
  66. Mailhot G, Ravid Z, Barchi S, Moreau A, Rabasa Lhoret R, Levy E. CFTR knockdown stimulates lipid synthesis and transport in intestinal Caco-2/15 cells. Am J Physiol Gastrointest Liver Physiol. 2009;297:G1239-49 pubmed publisher
    b>Cystic fibrosis transmembrane conductance regulator (CFTR) is a chloride channel highly expressed in epithelial cells of the gastrointestinal tract...
  67. Cui G, Freeman C, Knotts T, Prince C, Kuang C, McCarty N. Two salt bridges differentially contribute to the maintenance of cystic fibrosis transmembrane conductance regulator (CFTR) channel function. J Biol Chem. 2013;288:20758-67 pubmed publisher
    Previous studies have identified two salt bridges in human CFTR chloride ion channels, Arg(352)-Asp(993) and Arg(347)-Asp(924), that are required for normal channel function...
  68. Ooi C, Durie P. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis. J Cyst Fibros. 2012;11:355-62 pubmed publisher
    The pancreas is one of the primary organs affected by dysfunction of the cystic fibrosis transmembrane conductance regulator (CFTR) protein...
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    ..most common cystic fibrosis mutation, ?F508 in nucleotide binding domain 1 (NBD1), impairs cystic fibrosis transmembrane conductance regulator (CFTR)-coupled domain folding, plasma membrane expression, function and stability...
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    ..Here, we describe findings demonstrating that the cell surface expression of the cystic fibrosis transmembrane conductance regulator (CFTR) is also regulated by WNK4 in mammalian cells...
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    Deletion of Phe-508 (F508del) in the first nucleotide binding domain (NBD1) of the cystic fibrosis transmembrane conductance regulator (CFTR) leads to defects in folding and channel gating...
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    The Cystic Fibrosis Transmembrane conductance Regulator (CFTR) is a chloride channel that plays a critical role in the lung by maintaining fluid homeostasis...