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 regulator (ATP-binding cassette sub-family C, member 7)
Species: human

Top Publications

  1. ncbi Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA
    J R Riordan
    Department of Biochemistry, Hospital for Sick Children, Toronto, Ontario, Canada
    Science 245:1066-73. 1989
  2. ncbi The Hsc70 co-chaperone CHIP targets immature CFTR for proteasomal degradation
    G C Meacham
    Department of Cell Biology and Cystic Fibrosis Center, University of Alabama Medical Center, 1918 University Boulevard, Birmingham, Alabama 35294 0005, USA
    Nat Cell Biol 3:100-5. 2001
  3. ncbi Hsp90 cochaperone Aha1 downregulation rescues misfolding of CFTR in cystic fibrosis
    Xiaodong Wang
    Department of Cell Biology, The Scripps Research Institute, La Jolla, CA 92037, USA
    Cell 127:803-15. 2006
  4. pmc Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function
    Adrian W R Serohijos
    Department of Biochemistry and Biophysics, University of North Carolina, Chapel Hill, NC 27599, USA
    Proc Natl Acad Sci U S A 105:3256-61. 2008
  5. pmc Peripheral protein quality control removes unfolded CFTR from the plasma membrane
    Tsukasa Okiyoneda
    Department of Physiology, and Groupe de Recherche Axé sur la Structure des Protéine GRASP McGill University, Montreal, Quebec H3G 1Y6, Canada
    Science 329:805-10. 2010
  6. ncbi Sequential quality-control checkpoints triage misfolded cystic fibrosis transmembrane conductance regulator
    J Michael Younger
    Department of Cell and Developmental Biology, UNC Chapel Hill School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA
    Cell 126:571-82. 2006
  7. ncbi Physiological modulation of CFTR activity by AMP-activated protein kinase in polarized T84 cells
    Kenneth R Hallows
    Renal Electrolyte Division, Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15261, USA
    Am J Physiol Cell Physiol 284:C1297-308. 2003
  8. pmc CFTR: folding, misfolding and correcting the ΔF508 conformational defect
    Gergely L Lukacs
    Department of Physiology and GRASP, McGill University, Montreal, Quebec H3E 1Y6, Canada
    Trends Mol Med 18:81-91. 2012
  9. pmc The Hdj-2/Hsc70 chaperone pair facilitates early steps in CFTR biogenesis
    G C Meacham
    Department of Cell Biology, School of Medicine and Dentistry, University of Alabama Medical Center, Birmingham, AL 35209, USA
    EMBO J 18:1492-505. 1999
  10. doi Structure and dynamics of NBD1 from CFTR characterized using crystallography and hydrogen/deuterium exchange mass spectrometry
    H A Lewis
    SGX Pharmaceuticals, San Diego, CA 92121, USA
    J Mol Biol 396:406-30. 2010

Research Grants

  1. Daily genistein injections stimulate intestinal secretion: How?
    Layla Al Nakkash; Fiscal Year: 2007
  2. Guillermo J Tearney; Fiscal Year: 2015
  3. CFTR Biogenesis and Function in Epithelia
    Zsuzsa Bebok; Fiscal Year: 2012
  4. Toxic metals and ion channels in cigarette-smoke induced COPD
    ESTELLE A CORMET BOYAKA; Fiscal Year: 2010
  5. Tissue-specific regulation of a gene essential for airway epithelial function
    Ann Harris; Fiscal Year: 2012
  6. Ann Harris; Fiscal Year: 2015
  7. Cell Biology of CFTR in Polarized Epithelia
    James F Collawn; Fiscal Year: 2013
  8. ESTELLE A CORMET-BOYAKA; Fiscal Year: 2014
  9. A Novel HTS Cell-Based Imaging Assay To Identify Chemical Correctors for ??F508-C
    Wook Joon Chung; Fiscal Year: 2009
  10. Targeting compartmentalized phosphodiesterases to regulate CFTR function
    WITO H RICHTER; Fiscal Year: 2013

Detail Information

Publications379 found, 100 shown here

  1. ncbi Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA
    J R Riordan
    Department of Biochemistry, Hospital for Sick Children, Toronto, Ontario, Canada
    Science 245:1066-73. 1989
    ..A deletion of three base pairs that results in the omission of a phenylalanine residue at the center of the first predicted nucleotide-binding domain was detected in CF patients...
  2. ncbi The Hsc70 co-chaperone CHIP targets immature CFTR for proteasomal degradation
    G C Meacham
    Department of Cell Biology and Cystic Fibrosis Center, University of Alabama Medical Center, 1918 University Boulevard, Birmingham, Alabama 35294 0005, USA
    Nat Cell Biol 3:100-5. 2001
    The folding of both wild-type and mutant forms of the cystic-fibrosis transmembrane-conductance regulator (CFTR), a plasma-membrane chloride-ion channel, is inefficient...
  3. ncbi Hsp90 cochaperone Aha1 downregulation rescues misfolding of CFTR in cystic fibrosis
    Xiaodong Wang
    Department of Cell Biology, The Scripps Research Institute, La Jolla, CA 92037, USA
    Cell 127:803-15. 2006
    ..Using proteomics to assess global cystic fibrosis (CF) transmembrane conductance regulator (CFTR) protein interactions (the CFTR interactome), we show that Hsp90 cochaperones modulate Hsp90-dependent stability of ..
  4. pmc Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function
    Adrian W R Serohijos
    Department of Biochemistry and Biophysics, University of North Carolina, Chapel Hill, NC 27599, USA
    Proc Natl Acad Sci U S A 105:3256-61. 2008
    ..of phenylalanine-508 (Phe-508) from the N-terminal nucleotide-binding domain (NBD1) of the cystic fibrosis transmembrane conductance regulator (CFTR), a member of the ATP-binding cassette (ABC) transporter family, disrupts both its ..
  5. pmc Peripheral protein quality control removes unfolded CFTR from the plasma membrane
    Tsukasa Okiyoneda
    Department of Physiology, and Groupe de Recherche Axé sur la Structure des Protéine GRASP McGill University, Montreal, Quebec H3G 1Y6, Canada
    Science 329:805-10. 2010
    Therapeutic efforts to restore biosynthetic processing of the cystic fibrosis transmembrane conductance regulator lacking the F508 residue (DeltaF508CFTR) are hampered by ubiquitin-dependent lysosomal degradation of nonnative, rescued ..
  6. ncbi Sequential quality-control checkpoints triage misfolded cystic fibrosis transmembrane conductance regulator
    J Michael Younger
    Department of Cell and Developmental Biology, UNC Chapel Hill School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA
    Cell 126:571-82. 2006
    Cystic fibrosis arises from the misfolding and premature degradation of CFTR Delta F508, a Cl- ion channel with a single amino acid deletion...
  7. ncbi Physiological modulation of CFTR activity by AMP-activated protein kinase in polarized T84 cells
    Kenneth R Hallows
    Renal Electrolyte Division, Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15261, USA
    Am J Physiol Cell Physiol 284:C1297-308. 2003
    The cystic fibrosis transmembrane conductance regulator (CFTR) is a cAMP-activated, ATP-gated Cl(-) channel and cellular conductance regulator, but the detailed mechanisms of CFTR regulation and its regulation of other transport proteins ..
  8. pmc CFTR: folding, misfolding and correcting the ΔF508 conformational defect
    Gergely L Lukacs
    Department of Physiology and GRASP, McGill University, Montreal, Quebec H3E 1Y6, Canada
    Trends Mol Med 18:81-91. 2012
    ..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...
  9. pmc The Hdj-2/Hsc70 chaperone pair facilitates early steps in CFTR biogenesis
    G C Meacham
    Department of Cell Biology, School of Medicine and Dentistry, University of Alabama Medical Center, Birmingham, AL 35209, USA
    EMBO J 18:1492-505. 1999
    The cystic fibrosis transmembrane conductance regulator (CFTR) is a chloride ion channel constructed from two membrane-spanning domains (MSDs), two nucleotide-binding domains (NBD) and a regulatory (R) domain...
  10. doi Structure and dynamics of NBD1 from CFTR characterized using crystallography and hydrogen/deuterium exchange mass spectrometry
    H A Lewis
    SGX Pharmaceuticals, San Diego, CA 92121, USA
    J Mol Biol 396:406-30. 2010
    The DeltaF508 mutation in nucleotide-binding domain 1 (NBD1) of the cystic fibrosis transmembrane conductance regulator (CFTR) is the predominant cause of cystic fibrosis...
  11. doi Molecular models of the open and closed states of the whole human CFTR protein
    Jean Paul Mornon
    IMPMC, UMR7590, CNRS, Universités Pierre et Marie Curie Paris 6 et Denis Diderot Paris 7, 140 rue de Lourmel, Paris, France
    Cell Mol Life Sci 66:3469-86. 2009
    b>Cystic fibrosis transmembrane conductance regulator (CFTR), involved in cystic fibrosis (CF), is a chloride channel belonging to the ATP-binding cassette (ABC) superfamily...
  12. doi Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis
    Chee Y Ooi
    Physiology and Experimental Medicine, The Research Institute, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada
    Gastroenterology 140:153-61. 2011
    Different mutations in the cystic fibrosis gene (CFTR) are associated with different functional status of the exocrine pancreas...
  13. pmc Critical modifier role of membrane-cystic fibrosis transmembrane conductance regulator-dependent ceramide signaling in lung injury and emphysema
    Manish Bodas
    Department of Pediatric Respiratory Sciences, Johns Hopkins University, Baltimore, MD 21287, USA
    J Immunol 186:602-13. 2011
    ..Although an association between lack of cystic fibrosis transmembrane conductance regulator (CFTR) and ceramide accumulation has been described, it is unclear how membrane-CFTR may ..
  14. pmc MiR-101 and miR-144 regulate the expression of the CFTR chloride channel in the lung
    Fatemat Hassan
    Department of Internal Medicine, Division of Pulmonary, Allergy, Critical Care and Sleep Medicine, The Ohio State University, Columbus, OH, USA
    PLoS ONE 7:e50837. 2012
    The Cystic Fibrosis Transmembrane conductance Regulator (CFTR) is a chloride channel that plays a critical role in the lung by maintaining fluid homeostasis...
  15. pmc Cystic fibrosis transmembrane conductance regulator recruitment to phagosomes in neutrophils
    Yun Zhou
    Department of Microbiology, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA
    J Innate Immun 5:219-30. 2013
    ..Chloride transport from cytoplasm into phagosomes requires chloride channels which include cystic fibrosis transmembrane conductance regulator (CFTR), a cAMP-activated chloride channel...
  16. pmc Cigarette smoke and CFTR: implications in the pathogenesis of COPD
    Andras Rab
    Dept of Cell, Developmental and Integrative Biology, Univ of Alabama at Birmingham, 1918 Univ Blvd, MCLM 395, Birmingham, AL 35294
    Am J Physiol Lung Cell Mol Physiol 305:L530-41. 2013
    ..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...
  17. ncbi Correctors promote maturation of cystic fibrosis transmembrane conductance regulator (CFTR)-processing mutants by binding to the protein
    Ying Wang
    Department of Medicine, University of Toronto, Toronto, Ontario M5S 1A8, Canada
    J Biol Chem 282:33247-51. 2007
    The most common cause of cystic fibrosis (CF) is defective folding of a cystic fibrosis transmembrane conductance regulator (CFTR) mutant lacking Phe(508) (DeltaF508)...
  18. doi Role of calpain in the regulation of CFTR (cystic fibrosis transmembrane conductance regulator) turnover
    Monica Averna
    Biochemistry Section, Department of Experimental Medicine, University of Genoa, Viale Benedetto XV, Genoa, Italy
    Biochem J 430:255-63. 2010
    The level of the mature native 170 kDa form of CFTR (cystic fibrosis transmembrane conductance regulator) at the plasma membrane is under the control of a selective proteolysis catalysed by calpain...
  19. ncbi Localisation of wild-type and DeltaF508-CFTR in nasal epithelial cells
    R L Dormer
    Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK
    Pflugers Arch 443:S117-20. 2001
    Wild-type and the DeltaF508 mutation of the cystic fibrosis transmembrane conductance regulator (DeltaF508-CFTR) were localised by confocal imaging in DeltaF508/DeltaF508 native airway epithelial cells using a well-characterised CFTR ..
  20. doi Architecture of the cystic fibrosis transmembrane conductance regulator protein and structural changes associated with phosphorylation and nucleotide binding
    Liang Zhang
    Faculty of Life Sciences, The University of Manchester, MIB, Manchester M1 7DN, UK
    J Struct Biol 167:242-51. 2009
    We describe biochemical and structural studies of the isolated cystic fibrosis transmembrane conductance regulator (CFTR) protein...
  21. pmc Changes in accessibility of cytoplasmic substances to the pore associated with activation of the cystic fibrosis transmembrane conductance regulator chloride channel
    Yassine El Hiani
    Department of Physiology and Biophysics, Dalhousie University, Halifax, Nova Scotia B3H 1X5, Canada
    J Biol Chem 285:32126-40. 2010
    Opening of the cystic fibrosis transmembrane conductance regulator Cl(-) channel is dependent both on phosphorylation and on ATP binding and hydrolysis...
  22. pmc CFTR regulatory region interacts with NBD1 predominantly via multiple transient helices
    Jennifer M R Baker
    Program in Molecular Structure and Function, The Hospital for Sick Children, 555 University Ave, Toronto, Ontario M5G 1X8, Canada
    Nat Struct Mol Biol 14:738-45. 2007
    The regulatory (R) region of the cystic fibrosis transmembrane conductance regulator (CFTR) is intrinsically disordered and must be phosphorylated at multiple sites for full CFTR channel activity, with no one specific phosphorylation ..
  23. ncbi The deacetylase HDAC6 regulates aggresome formation and cell viability in response to misfolded protein stress
    Yoshiharu Kawaguchi
    Department of Pharmacology and Cancer Biology, Duke University, Durham, NC 27710, USA
    Cell 115:727-38. 2003
    ..These findings identify HDAC6 as a crucial player in the cellular management of misfolded protein-induced stress...
  24. pmc The cochaperone HspBP1 inhibits the CHIP ubiquitin ligase and stimulates the maturation of the cystic fibrosis transmembrane conductance regulator
    Simon Alberti
    Institut für Zellbiologie and Bonner Forum Biomedizin, Rheinische Friedrich Wilhelms Universitat Bonn, D 53121 Bonn, Germany
    Mol Biol Cell 15:4003-10. 2004
    ..a consequence, HspBP1 interferes with the CHIP-induced degradation of immature forms of the cystic fibrosis transmembrane conductance regulator (CFTR) and stimulates CFTR maturation...
  25. pmc Vx-770 potentiates CFTR function by promoting decoupling between the gating cycle and ATP hydrolysis cycle
    Kang Yang Jih
    Dalton Cardiovascular Research Center, University of Missouri, Columbia, MO 65211, USA
    Proc Natl Acad Sci U S A 110:4404-9. 2013
    ..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...
  26. ncbi Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure
    Hal A Lewis
    Structural GenomiX, Inc, San Diego, California 92121, USA
    J Biol Chem 280:1346-53. 2005
    Cystic fibrosis is caused by defects in the cystic fibrosis transmembrane conductance regulator (CFTR), commonly the deletion of residue Phe-508 (DeltaF508) in the first nucleotide-binding domain (NBD1), which results in a severe ..
  27. ncbi Domain interdependence in the biosynthetic assembly of CFTR
    Liying Cui
    Dept of Biochemistry and Biophysics and Cystic Fibrosis Center, University of North Carolina at Chapel Hill, NC 27599, USA
    J Mol Biol 365:981-94. 2007
    ..The major disease-causing mutation in the cystic fibrosis transmembrane conductance regulator (CFTR or ABCC7), deletion of Phe508 in NBD1, does not grossly alter the structure of that ..
  28. pmc Processing mutations disrupt interactions between the nucleotide binding and transmembrane domains of P-glycoprotein and the cystic fibrosis transmembrane conductance regulator (CFTR)
    Tip W Loo
    Department of Medicine, University of Toronto, Toronto, Ontario M5S 1A8, Canada
    J Biol Chem 283:28190-7. 2008
    ..Similarly, CFTR mutants A274C(TMD1)/L1260C(NBD2) and V510C(NBD1)/A1067C(TMD2) could be cross-linked at 0 degrees C with copper ..
  29. ncbi Genetic modifiers of lung disease in cystic fibrosis
    Mitchell L Drumm
    Department of Pediatrics, Case Western Reserve University, Cleveland, USA
    N Engl J Med 353:1443-53. 2005
    Polymorphisms in genes other than the cystic fibrosis transmembrane conductance regulator (CFTR) gene may modify the severity of pulmonary disease in patients with cystic fibrosis.
  30. ncbi Evidence for periciliary liquid layer depletion, not abnormal ion composition, in the pathogenesis of cystic fibrosis airways disease
    H Matsui
    Cystic Fibrosis Pulmonary Research and Treatment Center, The University of North Carolina at Chapel Hill, 27599 7248, USA
    Cell 95:1005-15. 1998
    ..salt]/defensin" and "isotonic volume transport/mucus clearance," attempt to link defects in cystic fibrosis transmembrane conductance regulator-mediated ion transport to CF airways disease...
  31. ncbi E3KARP mediates the association of ezrin and protein kinase A with the cystic fibrosis transmembrane conductance regulator in airway cells
    F Sun
    Department of Cell Biology and Physiology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15261, USA
    J Biol Chem 275:29539-46. 2000
    Although it is generally recognized that cystic fibrosis transmembrane conductance regulator (CFTR) contains a PSD-95/Disc-large/ZO-1 (PDZ)-binding motif at its COOH terminus, the identity of the PDZ domain protein(s) that interact with ..
  32. pmc Chaperone displacement from mutant cystic fibrosis transmembrane conductance regulator restores its function in human airway epithelia
    Fei Sun
    Department of Cell Biology and Physiology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA
    FASEB J 22:3255-63. 2008
    Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause cystic fibrosis (CF)...
  33. pmc Role of N-linked oligosaccharides in the biosynthetic processing of the cystic fibrosis membrane conductance regulator
    Xiu Bao Chang
    Mayo Clinic College of Medicine, Mayo Clinic Arizona, Scottsdale, AZ 85259, USA
    J Cell Sci 121:2814-23. 2008
    The epithelial chloride channel CFTR is a glycoprotein that is modified by two N-linked oligosaccharides. The most common mutant CFTR protein in patients with cystic fibrosis, DeltaF508, is misfolded and retained by ER quality control...
  34. pmc AMP-activated protein kinase phosphorylation of the R domain inhibits PKA stimulation of CFTR
    J Darwin King
    Renal Electrolyte Division, Dept of Medicine, 3550 Terrace St, Univ of Pittsburgh, Pittsburgh, PA 15261, USA
    Am J Physiol Cell Physiol 297:C94-101. 2009
    ..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 ..
  35. pmc A complex intronic enhancer regulates expression of the CFTR gene by direct interaction with the promoter
    Christopher J Ott
    Children s Memorial Research Center, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
    J Cell Mol Med 13:680-92. 2009
    ..The cystic fibrosis transmembrane conductance regulator gene (CFTR) is expressed primarily in epithelial cells...
  36. pmc Intronic enhancers coordinate epithelial-specific looping of the active CFTR locus
    Christopher J Ott
    Human Molecular Genetics Program, Children s Memorial Research Center, Northwestern University Feinberg School of Medicine, 2300 Children s Plaza 211, Chicago, IL 60614, USA
    Proc Natl Acad Sci U S A 106:19934-9. 2009
    ..The cystic fibrosis transmembrane conductance regulator (CFTR) gene, which encompasses 189 kb of genomic DNA, shows a complex pattern of expression ..
  37. pmc Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
    Patrick R Sosnay
    1 Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA 2 Perdana University Graduate School of Medicine, Serdang, Malaysia 3 McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA
    Nat Genet 45:1160-7. 2013
    ..Few of the almost 2,000 variants in the cystic fibrosis transmembrane conductance regulator gene CFTR have empirical evidence that they cause cystic fibrosis...
  38. ncbi Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis
    C Castellani
    Cystic Fibrosis Center, Ospedale Civile Maggiore, Verona, Italy
    Hum Mutat 18:166. 2001
    ..The aim of this study was to find out if some subjects with pancreatitis and a CFTR mutation actually carry another, undetected mutation...
  39. pmc Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
    Joshua D Groman
    Training Program in Human Genetics, McKusick Nathans Institute of Genetic Medicine, Baltimore, MD 21287, USA
    Am J Hum Genet 74:176-9. 2004
    An abbreviated tract of five thymidines (5T) in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is found in approximately 10% of individuals in the general population...
  40. ncbi TGFbeta down-regulation of the CFTR: a means to limit epithelial chloride secretion
    Kathryn L Howe
    Intestinal Disease Research Programme, Department of Pathology and Molecular Medicine, McMaster University, HSC 3N5C, Hamilton, Ontario, Canada L8N 3Z5
    Exp Cell Res 298:473-84. 2004
    ..changes in the expression and localization of the apical membrane chloride channel, cystic fibrosis transmembrane conductance regulator (CFTR)...
  41. doi The CFTR M470V gene variant as a potential modifier of COPD severity: study of Serbian population
    Marija Stankovic
    Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia
    Genet Test 12:357-62. 2008
    ..b>Cystic fibrosis transmembrane conductance regulator (CFTR) protein is an important component of the lung tissue homeostasis, involved in the ..
  42. pmc N-glycans are direct determinants of CFTR folding and stability in secretory and endocytic membrane traffic
    Rina Glozman
    Hospital for Sick Children Research Institute, University of Toronto, Toronto, Ontario, Canada
    J Cell Biol 184:847-62. 2009
    ..the productive folding and conformational stability of a polytopic membrane protein, the cystic fibrosis transmembrane conductance regulator (CFTR), independently of lectin-like chaperones...
  43. pmc Relationship between nucleotide binding and ion channel gating in cystic fibrosis transmembrane conductance regulator
    Andrei A Aleksandrov
    Department of Biomedical Engineering, University of North Carolina, Chapel Hill, NC 27599, USA
    J Physiol 587:2875-86. 2009
    ..analysis to characterize the dynamic events involved in the allosteric regulation of cystic fibrosis transmembrane conductance regulator (CFTR) function...
  44. pmc Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients
    Anabela S Ramalho
    University of Lisboa, Centre for Biodiversity, Functional and Integrative Genomics, Lisboa, Portugal
    Cell Physiol Biochem 24:335-46. 2009
    Mutations in the CFTR gene cause Cystic Fibrosis (CF) the most common life-threatening autosomal recessive disease affecting Caucasians. We identified a CFTR mutation (c...
  45. doi Clinical and genetic characteristics of meconium ileus in newborns with and without cystic fibrosis
    R R Gorter
    Pediatric Surgical Center of Amsterdam, Emma Children s Hospital and VU University Medical Center, Amsterdam, The Netherlands
    J Pediatr Gastroenterol Nutr 50:569-72. 2010
    ..None of the patients with other mutations had complex MI. Therefore, we conclude that the clinical entity of MI represents a spectrum of underlying pathologies...
  46. doi Idiopathic chronic pancreatitis in India: phenotypic characterisation and strong genetic susceptibility due to SPINK1 and CFTR gene mutations
    Shallu Midha
    Department of Gastroenterology, All India Institute of Medical Sciences, New Delhi 110029, India
    Gut 59:800-7. 2010
    ..To study the genetic predisposition, phenotype and prognosis of idiopathic chronic pancreatitis (CP)...
  47. doi Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition
    Alessandro Luciani
    European Institute for Research in Cystic Fibrosis, San Raffaele Scientific Institute, Milan 20132, Italy
    Nat Cell Biol 12:863-75. 2010
    ..CF), a life-threatening genetic disorder caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR)...
  48. pmc Defective CFTR expression and function are detectable in blood monocytes: development of a new blood test for cystic fibrosis
    Claudio Sorio
    Sezione di Patologia Generale, Dipartimento di Patologia e Diagnostica, University of Verona, Verona, Italy
    PLoS ONE 6:e22212. 2011
    Evaluation of cystic fibrosis transmembrane conductance regulator (CFTR) functional activity to assess new therapies and define diagnosis of cystic fibrosis (CF) is cumbersome...
  49. doi CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis
    Jianmin Yu
    Centre for Reproductive Medicine, Zhejiang Academy of Medical Sciences, Hangzhou, Zhejiang 310013, People s Republic of China
    Hum Reprod 27:25-35. 2012
    Numerous studies have reported CFTR mutations in CBAVD (congenital bilateral absence of the vas deferens) patients, but their results are not completely consistent...
  50. doi 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
    M Boudaya
    Laboratoire de Biochimie et de Biologie Moléculaire Hôpital d enfants de Tunis, Tunis, Tunisia
    Ann Hum Biol 39:76-9. 2012
    ..Molecular study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene responsible for cystic fibrosis could show the relationship between this ..
  51. ncbi Role of cystic fibrosis transmembrane conductance regulator in patients with chronic sinopulmonary disease
    Tanja Gonska
    Department of Pediatrics, University of Toronto, Toronto, ON, Canada
    Chest 142:996-1004. 2012
    ..studies report a high frequency of mutations in the cystic fibrosis (CF) transmembrane conductance regulator gene (CFTR) in patients with idiopathic bronchiectasis...
  52. pmc Transcriptional networks driving enhancer function in the CFTR gene
    Jenny L Kerschner
    Human Molecular Genetics Program, Children s Memorial Research Center, Chicago, IL 60614, USA
    Biochem J 446:203-12. 2012
    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...
  53. pmc Relating the disease mutation spectrum to the evolution of the cystic fibrosis transmembrane conductance regulator (CFTR)
    Lavanya Rishishwar
    School of Biology, Georgia Institute of Technology, Atlanta, Georgia, United States of America
    PLoS ONE 7:e42336. 2012
    ..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 ..
  54. doi HGF stimulation of Rac1 signaling enhances pharmacological correction of the most prevalent cystic fibrosis mutant F508del-CFTR
    Sónia Moniz
    Department of Genetics, National Health Institute Dr Ricardo Jorge, Av Padre Cruz, 1649 016 Lisboa, Portugal
    ACS Chem Biol 8:432-42. 2013
    ..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...
  55. pmc Dexamethasone regulates CFTR expression in Calu-3 cells with the involvement of chaperones HSP70 and HSP90
    Luiz Felipe M Prota
    Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
    PLoS ONE 7:e47405. 2012
    ..however, not much 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.
  56. pmc The CFTR ion channel: gating, regulation, and anion permeation
    Tzyh Chang Hwang
    Dalton Cardiovascular Research Center, University of Missouri Columbia, Columbia, MO 65211, USA
    Cold Spring Harb Perspect Med 3:a009498. 2013
    b>Cystic fibrosis transmembrane conductance regulator (CFTR) is an ATP-gated anion channel with two remarkable distinctions...
  57. pmc Tgf-β1 inhibits Cftr biogenesis and prevents functional rescue of ΔF508-Cftr in primary differentiated human bronchial epithelial cells
    Steven M Snodgrass
    Division of Pediatric Pulmonology, Children s Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA
    PLoS ONE 8:e63167. 2013
    b>CFTR is an integral transmembrane glycoprotein and a cAMP-activated Cl(-) channel...
  58. ncbi Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease
    C Bombieri
    Istituto di Biologia e Genetica, Universita di Verona, Italy
    Hum Genet 103:718-22. 1998
    In order to determine the possible role of the cystic fibrosis transmembrane regulator (CFTR) gene in pulmonary diseases not due to cystic fibrosis, a complete screening of the CFTR gene was performed in 120 Italian patients with ..
  59. ncbi Efficient intracellular processing of the endogenous cystic fibrosis transmembrane conductance regulator in epithelial cell lines
    Karoly Varga
    Department of Cell Biology, Genetics and Gregory Fleming James Cystic Fibrosis Research Center, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    J Biol Chem 279:22578-84. 2004
    The cystic fibrosis transmembrane conductance regulator (CFTR) is a cAMP-dependent protein kinase A-activated chloride channel that resides on the apical surface of epithelial cells...
  60. doi Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: a multicentric Italian study
    R Tomaiuolo
    CEINGE Advanced Biotechnologies, scarl and Department of Biochemistry and Medical Biotechnologies, University of Naples Federico II, Naples, Italy
    J Cyst Fibros 7:347-51. 2008
    ..To date, the scanning of the whole coding region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene permits to identify about 90% of alleles from patients bearing CF and a lower ..
  61. pmc A truncated CFTR protein rescues endogenous DeltaF508-CFTR and corrects chloride transport in mice
    Estelle Cormet-Boyaka
    Division of Pulmonary Critical Care and Sleep Medicine, The Ohio State University, Columbus, OH 43201, USA
    FASEB J 23:3743-51. 2009
    ..with deletion of phenylalanine at position 508 (DeltaF508) in the CF transmembrane conductance regulator (CFTR) protein...
  62. pmc Na+/H+ exchanger regulatory factor 1 overexpression-dependent increase of cytoskeleton organization is fundamental in the rescue of F508del cystic fibrosis transmembrane conductance regulator in human airway CFBE41o- cells
    Maria Favia
    Department of General and Environmental Physiology, University of Bari, Bari, Italy
    Mol Biol Cell 21:73-86. 2010
    ..1 (NHERF1) overexpression in CFBE41o- cells induces a significant redistribution of F508del cystic fibrosis transmembrane conductance regulator (CFTR) from the cytoplasm to the apical membrane and rescues CFTR-dependent chloride ..
  63. pmc Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures
    Deborah M Cholon
    Cystic Fibrosis Research Center and Department of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599 7248, USA
    Am J Physiol Lung Cell Mol Physiol 298:L304-14. 2010
    b>CFTR is a highly regulated apical chloride channel of epithelial cells that is mutated in cystic fibrosis (CF)...
  64. pmc Compartmentalized cyclic adenosine 3',5'-monophosphate at the plasma membrane clusters PDE3A and cystic fibrosis transmembrane conductance regulator into microdomains
    Himabindu Penmatsa
    Department of Physiology, University of Tennessee Health Science Center, Memphis, TN 38163, USA
    Mol Biol Cell 21:1097-110. 2010
    ..that phosphodiesterase type 3A (PDE3A) physically and functionally interacts with cystic fibrosis transmembrane conductance regulator (CFTR) channel...
  65. pmc CFTR chloride channel in the apical compartments: spatiotemporal coupling to its interacting partners
    Chunying Li
    Department of Biochemistry and Molecular Biology, Wayne State University School of Medicine, 540 E Canfield Avenue, 5312 Scott Hall, Detroit, Michigan 48201, USA
    Integr Biol (Camb) 2:161-77. 2010
    The cystic fibrosis transmembrane conductance regulator (CFTR) is a cAMP-regulated chloride channel located primarily at the apical or luminal surfaces of epithelial cells in the airway, intestine, pancreas, kidney, sweat gland, as well ..
  66. pmc Proinflammatory phenotype and increased caveolin-1 in alveolar macrophages with silenced CFTR mRNA
    Yaqin Xu
    Department of Pediatrics, Weill Cornell Medical College, New York, New York, USA
    PLoS ONE 5:e11004. 2010
    ..tract in cystic fibrosis (CF) has been linked to the defective expression of the cystic transmembrane regulator (CFTR) in epithelial cells...
  67. pmc CFTR expression analysis in human nasal epithelial cells by flow cytometry
    Marit A van Meegen
    Department of Pediatric Pulmonology, University Medical Center Utrecht, Utrecht, The Netherlands
    PLoS ONE 6:e27658. 2011
    ..We here present a flow cytometric procedure to study CFTR expression in human primary nasal epithelial cells from patients with Cystic Fibrosis (CF)...
  68. ncbi Clinical profile and frequency of delta f508 mutation in Indian children with cystic fibrosis
    S K Kabra
    Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110 029, India
    Indian Pediatr 40:612-9. 2003
    ..To document clinical profile of cystic fibrosis (CF) in Indian children and the prevalence of delta F508 mutation in these patients...
  69. pmc Alignment of transmembrane regions in the cystic fibrosis transmembrane conductance regulator chloride channel pore
    Wuyang Wang
    Department of Physiology and Biophysics, Dalhousie University, Halifax, Nova Scotia B3H 1X5, Canada
    J Gen Physiol 138:165-78. 2011
    Different transmembrane (TM) α helices are known to line the pore of the cystic fibrosis TM conductance regulator (CFTR) Cl(-) channel...
  70. pmc Three-dimensional reconstruction of human cystic fibrosis transmembrane conductance regulator chloride channel revealed an ellipsoidal structure with orifices beneath the putative transmembrane domain
    Kazuhiro Mio
    Neuroscience Research Institute, National Institute of Advanced Industrial Science and Technology, Umezono 1 1 4, Tsukuba, Ibaraki 305 8568, Japan
    J Biol Chem 283:30300-10. 2008
    The cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel is a membrane-integral protein that belongs to an ATP-binding cassette superfamily...
  71. ncbi Identification of the cystic fibrosis gene: chromosome walking and jumping
    J M Rommens
    Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada
    Science 245:1059-65. 1989
    ..Several transcribed sequences and conserved segments were identified in this cloned region. One of these corresponds to the cystic fibrosis gene and spans approximately 250,000 base pairs of genomic DNA...
  72. ncbi CFTR Cl- channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis
    Stephanie Hirtz
    Department of Pediatrics and Adolescent Medicine, Albert Ludwigs University, Freiburg, Germany
    Gastroenterology 127:1085-95. 2004
    Cystic fibrosis (CF) is caused by over 1000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and presents with a widely variable phenotype...
  73. pmc COMMD1-mediated ubiquitination regulates CFTR trafficking
    Loïc Drévillon
    INSERM, Unite U955, Creteil, France
    PLoS ONE 6:e18334. 2011
    The CFTR (cystic fibrosis transmembrane conductance regulator) protein is a large polytopic protein whose biogenesis is inefficient...
  74. pmc Endocytic trafficking routes of wild type and DeltaF508 cystic fibrosis transmembrane conductance regulator
    Martina Gentzsch
    Mayo Clinic College of Medicine, S C Johnson Medical Research Center, Department of Biochemistry and Molecular Biology, Mayo Clinic, Scottsdale, Arizona 85259, USA
    Mol Biol Cell 15:2684-96. 2004
    Intracellular trafficking of cystic fibrosis transmembrane conductance regulator (CFTR) is a focus of attention because it is defective in most patients with cystic fibrosis...
  75. pmc Most F508del-CFTR is targeted to degradation at an early folding checkpoint and independently of calnexin
    Carlos M Farinha
    Department of Chemistry and Biochemistry, Faculty of Sciences, University of Lisboa, 1749 016 Lisboa, Portugal
    Mol Cell Biol 25:5242-52. 2005
    ..Our data show that the major degradation pathway of the cystic fibrosis transmembrane conductance regulator (CFTR) with F508del (the most frequent mutation found in patients with the genetic disease ..
  76. pmc CFTR channel opening by ATP-driven tight dimerization of its nucleotide-binding domains
    Paola Vergani
    Laboratory of Cardiac Membrane Physiology, The Rockefeller University, New York, New York 10021, USA
    Nature 433:876-80. 2005
    ..b>Cystic fibrosis transmembrane conductance regulator (CFTR), the protein dysfunctional in cystic fibrosis, is unique among ABC proteins in that ..
  77. pmc Failure of cAMP agonists to activate rescued deltaF508 CFTR in CFBE41o- airway epithelial monolayers
    Zsuzsa Bebok
    Gregory Fleming James Cystic Fibrosis Research Center, University of Alabama at Birmingham, Birmingham, AL 35233, USA
    J Physiol 569:601-15. 2005
    The cystic fibrosis transmembrane conductance regulator (CFTR) is a cyclic AMP-regulated chloride channel. Mutations in the CFTR gene result in cystic fibrosis (CF)...
  78. pmc Cystic fibrosis transmembrane conductance regulator is vital to sperm fertilizing capacity and male fertility
    Wen Ming Xu
    Epithelial Cell Biology Research Center, Li Ka Shing Institute of Health Sciences, Department of Physiology, Faculty of Medicine, Chinese University of Hong Kong, Shatin, NT, Hong Kong, China
    Proc Natl Acad Sci U S A 104:9816-21. 2007
    b>Cystic fibrosis transmembrane conductance regulator (CFTR) is an anion channel, mutations of which cause cystic fibrosis, a disease characterized by defective Cl(-) and HCO(3)(-) transport...
  79. pmc Reduced histone deacetylase 7 activity restores function to misfolded CFTR in cystic fibrosis
    Darren M Hutt
    Department of Cell Biology, The Scripps Research Institute, La Jolla, California, USA
    Nat Chem Biol 6:25-33. 2010
    ..The DeltaF508 mutation in cystic fibrosis transmembrane conductance regulator (CFTR) results in the absence of the cell surface chloride channel and a loss of airway ..
  80. pmc Cystic fibrosis transmembrane conductance regulator trafficking modulates the barrier function of airway epithelial cell monolayers
    Pierre Lesimple
    Department of Physiology, McGill University, Montreal, QC, Canada
    J Physiol 588:1195-209. 2010
    The cystic fibrosis transmembrane conductance regulator (CFTR) is an integral membrane glycoprotein which functions as an anion channel and influences diverse cellular processes...
  81. pmc Thermal unfolding studies show the disease causing F508del mutation in CFTR thermodynamically destabilizes nucleotide-binding domain 1
    Irina Protasevich
    Center for Biophysical Sciences and Engineering, University of Alabama at Birmingham, Birmingham, Alabama 35294 4400, USA
    Protein Sci 19:1917-31. 2010
    Misfolding and degradation of CFTR is the cause of disease in patients with the most prevalent CFTR mutation, an in-frame deletion of phenylalanine (F508del), located in the first nucleotide-binding domain of human CFTR (hNBD1)...
  82. ncbi Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis
    I McIntosh
    Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205
    FASEB J 6:2775-82. 1992
    ..The protein encoded by the gene defective in CF has been termed the CF transmembrane conductance regulator (CFTR) because of its postulated role in electrolyte transport...
  83. ncbi Multiple proteolytic systems, including the proteasome, contribute to CFTR processing
    T J Jensen
    S C Johnson Medical Research Center, Mayo Clinic Scottsdale, Arizona 85259, USA
    Cell 83:129-35. 1995
    ..The cystic fibrosis transmembrane conductance regulator (CFTR) is an integral membrane protein to which this quality control is stringently applied;..
  84. ncbi Increased diffusional mobility of CFTR at the plasma membrane after deletion of its C-terminal PDZ binding motif
    Peter M Haggie
    Departments of Medicine and Physiology, Cardiovascular Research Institute, University of California, San Francisco, California 94143 0521, USA
    J Biol Chem 279:5494-500. 2004
    The cystic fibrosis transmembrane conductance regulator (CFTR) protein is a cAMP-regulated Cl- channel expressed at the apical plasma membrane...
  85. pmc ATP-independent CFTR channel gating and allosteric modulation by phosphorylation
    Wei Wang
    Department of Physiology and Biophysics, University of Alabama, Birmingham, AL 35294, USA
    Proc Natl Acad Sci U S A 107:3888-93. 2010
    Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) channel, an ATP binding cassette (ABC) transporter...
  86. doi Functional analysis of F508del CFTR in native human colon
    Andrea van Barneveld
    Klinische Forschergruppe, OE 6710, Medizinische Hochschule Hannover, Hannover, Germany
    Biochim Biophys Acta 1802:1062-9. 2010
    ..mutant defective in protein folding, processing and trafficking, but literature data on F508del CFTR maturation and function in human tissue are inconsistent...
  87. pmc 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
    Kevin L Kirk
    Department of Physiology and Biophysics and the Gregory Fleming James Cystic Fibrosis Research Center, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    J Biol Chem 286:12813-9. 2011
    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)...
  88. ncbi Analysis of a DNase I hypersensitive site located -20.9 kb upstream of the CFTR gene
    H N Nuthall
    Paediatric Molecular Genetics, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
    Eur J Biochem 266:431-43. 1999
    The cystic fibrosis transmembrane conductance regulator gene (CFTR) shows a tightly regulated pattern of expression with spatial and temporal control...
  89. pmc Rab11b regulates the apical recycling of the cystic fibrosis transmembrane conductance regulator in polarized intestinal epithelial cells
    Mark R Silvis
    Department of Cell Biology and Physiology, University of Pittsburgh School of Medicine, PA 15261, USA
    Mol Biol Cell 20:2337-50. 2009
    The cystic fibrosis transmembrane conductance regulator (CFTR), a cAMP/PKA-activated anion channel, undergoes efficient apical recycling in polarized epithelia...
  90. doi Correctors enhance maturation of DeltaF508 CFTR by promoting interactions between the two halves of the molecule
    Tip W Loo
    Department of Medicine and Department of Biochemistry, University of Toronto, Toronto, Ontario M5S 1A8, Canada
    Biochemistry 48:9882-90. 2009
    Deletion of Phe508 in cystic fibrosis transmembrane conductance regulator (DeltaF508 CFTR) causes cystic fibrosis...
  91. pmc Positive charges at the intracellular mouth of the pore regulate anion conduction in the CFTR chloride channel
    Chantal N St Aubin
    Department of Physiology and Biophysics, Dalhousie University, Halifax, Nova Scotia B3H 1X5, Canada
    J Gen Physiol 128:535-45. 2006
    ..arginine residues contributing important surface charges in the intracellular mouth of the cystic fibrosis transmembrane conductance regulator (CFTR) Cl(-) channel pore...
  92. pmc Regulation of conductance by the number of fixed positive charges in the intracellular vestibule of the CFTR chloride channel pore
    Jing Jun Zhou
    Department of Physiology and Biophysics, Dalhousie University, Halifax, Nova Scotia B3H 1X5, Canada
    J Gen Physiol 135:229-45. 2010
    Rapid chloride permeation through the cystic fibrosis transmembrane conductance regulator (CFTR) Cl(-) channel is dependent on the presence of fixed positive charges in the permeation pathway...
  93. pmc Processing and function of CFTR-DeltaF508 are species-dependent
    Lynda S Ostedgaard
    Howard Hughes Medical Institute, Department of Internal Medicine, University of Iowa, Iowa City, IA 52242, USA
    Proc Natl Acad Sci U S A 104:15370-5. 2007
    Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) cause cystic fibrosis. The most common mutation, a deletion of the phenylalanine at position 508 (DeltaF508), disrupts processing of the protein...
  94. ncbi CISD1 codifies a mitochondrial protein upregulated by the CFTR channel
    Guillermo L Taminelli
    Laboratorio de Biologia Celular y Molecular, Instituto de Investigaciones Bioquímicas de Buenos Aires, Consejo Nacional de Investigaciones Cientificas y Tecnicas, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Argentina
    Biochem Biophys Res Commun 365:856-62. 2008
    Cystic fibrosis (CF) is an autosomic recessive disease caused by mutations in the CFTR chloride channel, which indirectly affect the expression of a net of genes...
  95. doi Genetic investigations of CFTR mutations in congenital absence of vas deferens, uterus, and vagina as a cause of infertility
    Ramin Radpour
    Laboratory for Prenatal Medicine and Gynecologic Oncolocy, Women s Hospital Department of Medicine, University of Basel, Switzerland
    J Androl 29:506-13. 2008
    ..The spectrum and distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations differ between CBAVD and CF patients and are comparable to control ..
  96. doi The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening
    C Thauvin-Robinet
    Centre de Genetique, Hôpital d Enfants, 10, Bd Maréchal de Lattre de Tassigny, BP 77 908, 21079 Dijon Cedex, France
    J Med Genet 46:752-8. 2009
    ..fibrosis (CF) is caused by compound heterozygosity or homozygosity of CF transmembrane conductance regulator gene (CFTR) mutations...
  97. doi Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens
    Bernhard Steiner
    Institute of Medical Genetics, University of Zurich, Schwerzenbach and Children s Hospital, Cantonal Hospital Lucerne, Lucerne, Switzerland
    Hum Mutat 32:912-20. 2011
    b>CFTR mutations enhance susceptibility for idiopathic chronic pancreatitis (ICP) and congenital bilateral absence of the vas deferens (CBAVD); however, it is unknown why CFTR heterozygotes are at increased disease risk...
  98. pmc FK506 binding protein 8 peptidylprolyl isomerase activity manages a late stage of cystic fibrosis transmembrane conductance regulator (CFTR) folding and stability
    Darren M Hutt
    Department of Cell Biology, The Scripps Research Institute, La Jolla, California 92037, USA
    J Biol Chem 287:21914-25. 2012
    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 (ΔF508) allele...
  99. ncbi Cystic fibrosis transmembrane conductance regulator gene screening and clinical correlation in Taiwanese males with congenital bilateral absence of the vas deferens
    C C Wu
    Graduate Institute of Medical Sciences, Taipei Medical University, and Department of Urology, Taipei Medical University Hospital, Taipei, Taiwan
    Hum Reprod 19:250-3. 2004
    ..incidence of cystic fibrosis (CF), we first screened for the most common mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and looked for clinical correlations in 27 patients with clinically diagnosed ..
  100. ncbi Blood pressure and the cystic fibrosis gene: evidence for lower pressure rises with age in female carriers
    Maurice Super
    Department of Clinical Genetics, Royal Manchester Children s Hospital, Manchester, United Kingdom
    Hypertension 44:878-83. 2004
    ..This could result in significant reduction in stroke and heart disease. The effect on blood pressure is insufficient to prevent hypertension, though it remains conceivable that the severity might be ameliorated in carriers...
  101. pmc Restoration of domain folding and interdomain assembly by second-site suppressors of the DeltaF508 mutation in CFTR
    Lihua He
    Department of Biochemistry and Biophysics and Cystic Fibrosis Center, University of North Carolina, Chapel Hill, NC 27599, USA
    FASEB J 24:3103-12. 2010
    Deletion of PHE508 (DeltaF508) from the first nucleotide-binding domain (NBD1) of CFTR, which causes most cystic fibrosis, disrupts the folding and assembly of the protein...

Research Grants69

  1. Daily genistein injections stimulate intestinal secretion: How?
    Layla Al Nakkash; Fiscal Year: 2007
    ..a naturally occurring phytoestrogen found in soy, is a known in vitro activator of the cystic fibrosis transmembrane conductance regulator chloride channel (CFTR)...
  2. Guillermo J Tearney; Fiscal Year: 2015
    DESCRIPTION (provided by applicant): Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR), an anion transporter of chloride and bicarbonate...
  3. CFTR Biogenesis and Function in Epithelia
    Zsuzsa Bebok; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): The cystic fibrosis transmembrane conductance regulator (CFTR) is a chloride channel expressed on the apical surface of epithelial cells and is defective in cystic fibrosis (CF)...
  4. Toxic metals and ion channels in cigarette-smoke induced COPD
    ESTELLE A CORMET BOYAKA; Fiscal Year: 2010
    ..CS was shown to reduce the expression of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR)...
  5. Tissue-specific regulation of a gene essential for airway epithelial function
    Ann Harris; Fiscal Year: 2012
    ..cells and shows a complex expression pattern involving intronic regulatory elements, is the cystic fibrosis transmembrane conductance regulator gene (CFTR)...
  6. Ann Harris; Fiscal Year: 2015
    DESCRIPTION (provided by applicant): Functional inactivation (by mutation) of the cystic fibrosis transmembrane conductance regulator (CFTR), a small conductance, cAMP activated chloride ion channel, leads to developmental defects that ..
  7. Cell Biology of CFTR in Polarized Epithelia
    James F Collawn; Fiscal Year: 2013
    ..CF is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that encodes a chloride channel...
  8. ESTELLE A CORMET-BOYAKA; Fiscal Year: 2014
    ..We have evidence that the expression of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) is suppressed in human samples from COPD patients and that cigarette smoke reduces ..
  9. A Novel HTS Cell-Based Imaging Assay To Identify Chemical Correctors for ??F508-C
    Wook Joon Chung; Fiscal Year: 2009
    ..fibrosis (CF) is a lethal genetic disease caused by mutations in the gene that encodes Cystic Fibrosis Transmembrane conductance Regulator (CFTR)...
  10. Targeting compartmentalized phosphodiesterases to regulate CFTR function
    WITO H RICHTER; Fiscal Year: 2013
    ..microdomains of signaling, rather than on the global scale, determines the function of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) in health and disease...
  11. Discovering New Regulators of CFTR and Fluid Secretion in Zebrafish
    Michel Bagnat; Fiscal Year: 2009
    ..My focus is on the Cystic Fibrosis Transmembrane conductance Regulator, a chloride channel that is the major regulator of fluid secretion in vertebrates...
  12. DELTAF508-CFTR TRAFFICKING REGULATED BY 4-PHENYLBUTYRATE
    Ronald C Rubenstein; Fiscal Year: 2012
    The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) is a multifunctional protein that both transports Cl- across the apical plasma membrane of epithelial cells and regulates ion transport by other proteins, such as the ..
  13. Pathobiology of Cystic Fibrosis-Related Diabetes in a Ferret Model
    Zoe Stewart; Fiscal Year: 2013
    ..most common lethal autosomal recessive disease in Caucasians, resulting from defects in the cystic fibrosis transmembrane conductance regulator (CFTR) channel...
  14. Iowa Phase II Clinical Trials of Novel Therapies for Lung Diseases (U01
    Lakshmi Durairaj; Fiscal Year: 2012
    ..Disruption of the cystic fibrosis transmembrane conductance regulator chloride channels due to genetic mutations in subjects with CF results in altered fluid and ..
  15. MICHAEL LANSDELL PAINE; Fiscal Year: 2014
    ..The third protein is the cystic fibrosis transmembrane conductance regulator (CFTR), which is a chloride channel, is directly associated with AE2 function...
  16. Role of Ion Channel in Mononuclear Phagocyte Activation
    Deborah J Nelson; Fiscal Year: 2012
    ..we demonstrated that murine alveolar macrophages (AMs) but not neutrophils employ the CFTR (Cystic Fibrosis Transmembrane conductance Regulator) Cl- channel as a major shunt mechanism...
  17. Jeffrey A Whitsett; Fiscal Year: 2014
    ..growth, diferentiation, and gene expression of AECs and SMGs are influenced by the lack of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)...
  18. CFTR inhibitors for therapy of polycystic kidney disease
    Alan S Verkman; Fiscal Year: 2010
    ..ADPKD) progressive fluid accumulation into cysts requires chloride secretion by the cystic fibrosis transmembrane conductance regulator protein (CFTR), a cAMP-regulated chloride channel, which, when mutated, causes the genetic ..
  19. Development of a Humanized Pig Model of Cystic Fibrosis
    Christopher Rogers; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene...
  20. Elucidating the role of a-AP-2 in CFTR endocytosis and function in the intestine
    Anne M Collaco; Fiscal Year: 2013
    ..tissues and polarized intestinal cells to examine how internalization (endocytosis) of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) anion channels and its exocytic insertion back to the apical plasma membrane (..
  21. Mechanistic Basis Underlying Protein Repair of CFTR Nonsense Mutations
    STEVEN MARK ROWE; Fiscal Year: 2010
    ..in particular, the molecular basis underlying increased response observed for the W1282X cystic fibrosis transmembrane conductance regulator (CFTR) mutation), and identifying pathways to augment rescue of CFTR nonsense codons...
  22. Regulation of the Endocytic Trafficking of CFTR
    Agnieszka Swiatecka-Urban; Fiscal Year: 2012
    ..Our long-term objective is to elucidate the endocytic trafficking pathways of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) in order to identify a therapeutic target for the fatal disease, cystic fibrosis (CF)..
  23. Barbara I Kazmierczak; Fiscal Year: 2015
    ..Mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) affect its ability to act as a chloride channel...
  24. Mechanisms and Binding-Sites in Adenylate Kinase-Dependent CFTR Gating
    CHRISTOPH OSKAR RANDAK; Fiscal Year: 2013
    ..The cystic fibrosis transmembrane conductance regulator (CFTR), a regulated chloride channel, is a representative of one of the largest families of ..
  25. Development of inhibitors of the calcium-activated chloride channel TMEM16a
    Marc O Anderson; Fiscal Year: 2013
    ..An important example of a mis-functioning chloride channel is mutation of the cystic fibrosis transmembrane conductance regulator (CFTR), which causes cystic fibrosis (CF), one of the most common life-limiting genetic ..
  26. Gergely L Lukacs; Fiscal Year: 2016
    ..It is caused by mutations in the CF gene, encoding the cystic fibrosis transmembrane conductance regulator (CFTR), a cAMP-regulated chloride channel...
  27. Fei Sun; Fiscal Year: 2014
    ..a lethal autosomal recessive inherited disease caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR), which functions as a cAMP- dependent Cl channel at the apical membrane of ..
  28. Molecular Physiology and Pharmacology of CFTR
    SILVIA BOMPADRE; Fiscal Year: 2009
    The Cystic Fibrosis Transmembrane conductance Regulator (CFTR) is a chloride channel that is regulated by phosphorylation and gated by ATP binding and hydrolysis...
  29. Neil A Bradbury; Fiscal Year: 2014
    ..CF is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, that encodes for a chloride selective anion channel...
  30. WILLIAM EDWARD BALCH; Fiscal Year: 2016
    ..CF is caused principally by the Phe 508 deletion in the cystic fibrosis transmembrane conductance regulator (?F508 CFTR), a multi-membrane spanning, cAMP-regulated chloride channel...
  31. Bryan P Hurley; Fiscal Year: 2016
    ..mouse and human lung epithelial cells as well as lung epithelial cells with defective cystic fibrosis transmembrane conductance regulator. The ability of P...
  32. WANDA K O'NEAL; Fiscal Year: 2016
    ..Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause CF, a devastating, recessive, monogenic disease...
  33. Potentiation of Mutant CFTR Activity
    LOUISE CLARE PYLE; Fiscal Year: 2010
    ..The illness is caused by abnormalities in the cystic fibrosis transmembrane conductance regulator (CFTR), a chloride channel that serves a critical role maintaining lung health and ..
  34. Kris Steinbrecher; Fiscal Year: 2014
    ..cells, elevates intracellular cGMP and elicits transmembrane ion movement via the cystic fibrosis transmembrane conductance regulator and the Na+/H+ Exchanger 3...
  35. Biosynthesis and function of ABC transporters
    Patrick H Thibodeau; Fiscal Year: 2010
    ..altered water and salt secretion across epithelial tissues, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR)...
  36. CFTR Delivery to Ciliated Airway Cells by PIV Vectors
    Raymond Pickles; Fiscal Year: 2009
    ..The absent gene product in CF is the cystic fibrosis transmembrane conductance regulator (CFTR) protein that regulates fluid homeostatic mechanisms in the airway epithelium...
  37. Tzyh Chang Hwang; Fiscal Year: 2016
    CFTR (Cystic Fibrosis Transmembrane conductance Regulator) is a chloride channel that plays a critical role in mediating epithelial chloride secretion and absorption...
  38. CFTR-Ion Conduction and Gating Mechanisms
    David C Dawson; Fiscal Year: 2010
    ..of the proposed research are to identify the components of the anion-selective pore of the cystic fibrosis transmembrane conductance regulator (CFTR), to understand the physical basis for anion conduction and to discover the moving ..
  39. Bradford Alan Woodworth; Fiscal Year: 2015
    ..Decreased transepithelial Cl- transport secondary to an acquired Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) deficiency may contribute to respiratory epithelial dysfunction by abrogating MCC ..
  40. Rescue of CFTR-deltaF508 misfolding by pharmacological and genetic suppressors
    RYAN TYLER; Fiscal Year: 2009
    ..It is caused by mutations in the CF gene, which encodes the cystic fibrosis transmembrane conductance regulator (CFTR), a cell surface localized integral membrane protein that functions as chloride ion ..
  41. Aliye Uc; Fiscal Year: 2016
    ..b>Cystic fibrosis transmembrane conductance regulator (CFTR)-knockout pig and ferret models developed at the University of Iowa have multi-organ ..
  42. NAPS2 Continuation Genome Wide Association Study of Pancreatitis
    DAVID CLEMENT WHITCOMB; Fiscal Year: 2011
    ..We also discovered a new class of cystic fibrosis transmembrane conductance regulator (CFTR) variants that alter bicarbonate but not chloride conductance, such that the pancreas ..
  43. Gerald B Pier; Fiscal Year: 2016
    ..scratch-injured mouse eyes are found inside of cells, and entry requires binding to the cystic fibrosis transmembrane conductance regulator (CFTR)...
  44. Spin labeling of MsbA
    Candice S Klug; Fiscal Year: 2012
    ..MsbA with other ABC transporters implicated in various common genetic disorders such as the cystic fibrosis transmembrane conductance regulator, any new functional information gained by studying the easily purified MsbA will be ..
  45. Patrick H Thibodeau; Fiscal Year: 2015
    ..salt and water movement across epithelial tissues, is caused by mutations within the cystic fibrosis transmembrane conductance regulator (CFTR)...
  46. Optimization of Protein Therapeutics Formulations
    Lawrence J Delucas; Fiscal Year: 2012
    ..as the proteins osteoprotegerin (involved in bone mineralization and osteoporosis), the cystic fibrosis transmembrane conductance regulator protein (CFTR), the nucleotide-binding domain-1 of CFTR and phospholipase-D1 (a human ..
  47. The Role of the Calcium Activated Potassium Channel, KCa3.1, in the Pathogenesis
    Edward Skolnik; Fiscal Year: 2010
    ..enhanced growth of renal epithelia and the stimulation of apical chloride secretion via the cystic fibrosis transmembrane conductance regulator (CFTR)...
  48. Novel function and mechanism of CFTR in heart failure
    DAYUE DARREL DUAN; Fiscal Year: 2012
    The cystic fibrosis transmembrane conductance regulator (CFTR) is a unique member of the ATP-binding cassette (ABC) transporters superfamily, which functions as not only a transport but also a Cl- channel gated by protein kinase-..
  49. Myosin Functions in the Enterocyte
    Mark S Mooseker; Fiscal Year: 2012
    ..g. cystic fibrosis transmembrane conductance regulator, Na+/phosphate exchanger 2b,Toll-like receptor 4) will be explored.
  50. Adaptive glutathione responses to cigarette smoke in COPD
    Brian J Day; Fiscal Year: 2011
    ..The cystic fibrosis transmembrane conductance regulator (CFTR) and breast cancer related protein (BCRP) congenic KO mouse provides a unique animal ..
  51. LIVE-CELL IMAGING OF CFTR OLIGOMERIZATION, TRAFFICKING AND INTERACTIONS
    PETER MICHAEL HAGGIE; Fiscal Year: 2012
    The cystic fibrosis transmembrane conductance regulator (CFTR) is a cAMP-regulated ion channel present in the apical surface of several epithelia including the airways, pancreas, kidney, sweat glands and gastrointestinal tract...
  52. Elizabeth A Miller; Fiscal Year: 2015
    ..Yor1p is broadly related to the human cystic fibrosis transmembrane conductance regulator, CFTR, which causes cystic fibrosis when mutated...
  53. Nadia A Ameen; Fiscal Year: 2016
    DESCRIPTION (provided by applicant): Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) channels are the major apical exit pathways for anion (chloride and bicarbonate) secretion from the brush border membrane (BBM) in the ..
  54. Alvin C Powers; Fiscal Year: 2016
    ..Since the cystic fibrosis transmembrane conductance regulator (CFTR) is expressed and functional in mouse and human pancreatic islet cells, we propose ..
  55. MOLECULAR MECHANISMS OF CFTR FUNCTION
    John R Riordan; Fiscal Year: 2013
    The cystic fibrosis transmembrane conductance regulator (CFTR) plays a critical role in vertebrate epithelial salt and fluid homeostasis and its absence or dysfunction results in cystic fibrosis in humans...
  56. Integration of Genomics with Genetics - Molecular Phenotypes for CF Lung Disease
    Hara Levy; Fiscal Year: 2010
    ..and pancreatic insufficiency attributed to dysfunction of a single gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR)...
  57. MICHAEL SHANE STALVEY; Fiscal Year: 2014
    ..Recent data suggests that an underlying defect exists in bone metabolism of cystic fibrosis transmembrane conductance regulator (CFTR) deficient mice...
  58. MARTIN JOHN WALSH; Fiscal Year: 2014
    ..Since the discovery of the gene responsible for cystic fibrosis (CF) encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein, several therapeutic approaches have emerged that have extended and enhanced ..
  59. Eugene H Chang; Fiscal Year: 2015
    ..This is the first time an animal model will allow us to investigate the role of Cystic Fibrosis Transmembrane conductance Regulator (CFTR) on craniofacial development and sinus pathology in CFTR knockout (CFTR-/-) and wild-..
  60. David C Gadsby; Fiscal Year: 2014
    DESCRIPTION (provided by applicant): CFTR (cystic fibrosis transmembrane conductance regulator), encoded by the gene mutated in CF patients, is one of 48 human ATP-binding cassette (ABC) proteins...
  61. CFTR regulation of thyroid transport
    Peying Fong; Fiscal Year: 2013
    ..Our group recently positively established the presence of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) in thyroid, where it can mediate thyroid anion secretion via an apically localized, ..
  62. The (Mis)Folding Pathway of CFTR: Early Interdomain and Protein Interactions
    ANNA ELIZABETH PATRICK; Fiscal Year: 2012
    ..Cystic fibrosis (CF) is a lethal genetic disease caused by the lack of functional cystic fibrosis transmembrane conductance regulator protein (CFTR)...
  63. Biosynthesis of N-linked Glycoproteins: Two Fates - Folding or Degradation
    William J Lennarz; Fiscal Year: 2010
    ..secretory protein trafficking problems including cystic fibrosis caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR), emphysema and cirrhosis due to ?1-antitrypsin deficiency, and hemophilia in ..
  64. GATING OF THE CFTR CL CHANNEL BY ATP HYDROLYSIS
    Tzyh Chang Hwang; Fiscal Year: 1999
    ..goal of this project is to understand how hydrolysis of ATP is coupled to the gating of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) Cl channel in isolated guinea pig ventricular myocytes and in various cell lines ..
  65. Role of Myosin VI in CFTR Endocytosis in the Intestine
    Nadia Ameen; Fiscal Year: 2007
    ..fill critical gaps in our understanding of the physiologic relevance of trafficking of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel to anion transport in the intestine and its relevance to the ..
  66. CFTR AND ALIMENTARY EPITHELIAL ACID/ BASE TRANSPORT
    Lane Clarke; Fiscal Year: 2000
    ..human genetic disease, cystic fibrosis (CF), are indicative of the central role that the cystic fibrosis transmembrane conductance regulator (CFTR) plays in gastrointestinal electrolyte transport physiology...
  67. Physiologic membrane traffic regulation: intestinal CFTR
    Nadia Ameen; Fiscal Year: 2006
    ..Both diseases target the small intestine and are linked by the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel...
  68. High-throughput Assay to Identify CFTR Inhibitors
    Rangan Maitra; Fiscal Year: 2009
    ..a microplate-based fluorescent membrane potential assay to identify inhibitors of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)...
  69. Regulation of CFTR gene expression
    Martin Walsh; Fiscal Year: 2004
    Cystic fibrosis (CF), an autosomal recessive disorder, is caused by a dysfunctional cystic fibrosis transmembrane conductance regulator (CFTR) gene product...