The ΔF508 mutation causes CFTR misprocessing and cystic fibrosis-like disease in pigs

Science Translational Medicine

Volumn 3, Issue 74, 2011, Pages

  Ostedgaard, Lynda S ^a   Meyerholz, David K ^a   Chen, Jeng Haur ^a   Pezzulo, Alejandro A ^a   Karp, Philip H ^a   Rokhlina, Tatiana ^a   Ernst, Sarah E ^a   Hanfland, Robert A ^a   Reznikov, Leah R ^a   Ludwig, Paula S ^a   Rogan, Mark P ^a   Davis, Greg J ^a   Dohrn, Cassie L ^a   Wohlford Lenane, Christine ^a   Taft, Peter J ^a   Rector, Michael V ^a   Hornick, Emma ^a   Nassar, Boulos S ^a   Samuel, Melissa ^b   Zhang, Yuping ^a   Richter, Sandra S ^a   Uc, Aliye ^a   Shilyansky, Joel ^a   Prather, Randall S ^b   McCray Jr , Paul B ^a   Zabner, Joseph ^a   Welsh, Michael J ^a   Stoltz, David A ^a   more..

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF MISSOURI   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANION CHANNEL; CYCLIC AMP; MUTANT PROTEIN; PHENYLALANINE; RECOMBINANT PROTEIN; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ANIMAL CELL; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CYSTIC FIBROSIS; DRUG DEVELOPMENT; ELECTROPHYSIOLOGY; GASTROINTESTINAL DISEASE; GENE DELETION; IMMUNOCYTOCHEMISTRY; IN VITRO STUDY; IN VIVO STUDY; LUNG DISEASE; MEMBRANE CONDUCTANCE; MEMBRANE CURRENT; MOLECULAR PATHOLOGY; NEWBORN; NONHUMAN; PREDICTION; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN PROCESSING; RESPIRATORY EPITHELIUM; SWINE; ANIMAL; ANIMAL DISEASE; CELL CULTURE; CYTOLOGY; DISEASE COURSE; EPITHELIUM CELL; FEMALE; GENE SILENCING; GENETICS; HUMAN; MALE; METABOLISM; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; RESPIRATORY TRACT MUCOSA;

ANIMALS; ANIMALS, NEWBORN; CELLS, CULTURED; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DISEASE PROGRESSION; EPITHELIAL CELLS; FEMALE; GASTROINTESTINAL DISEASES; GENE KNOCKDOWN TECHNIQUES; HUMANS; LUNG DISEASES; MALE; MUTATION; RESPIRATORY MUCOSA; SWINE;

EID: 79952779452     PISSN: 19466234     EISSN: 19466242     Source Type: Journal    
DOI: 10.1126/scitranslmed.3001868     Document Type: Article

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52. Acknowledgments: We thank P. Hughes, P. Tan, T. Mayhew, and P. Naumann for excellent assistance. We thank K. Chaloner for statistical advice. GlyH-101 was a gift from the Cystic Fibrosis Foundation Therapeutics and R. Bridges. Funding: This work was supported by the NIH (HL51670, HL091842, and DK54759) and Cystic Fibrosis Foundation. D.A.S. was supported by AI076671. A.U. is funded in part by NIH R01 DK084049. M.J.W. is an Investigator of the Howard Hughes Medical Institute. Author contributions: Overall design of the study was by L.S.O., D.K.M., J.-H.C., A.A.P., A.U., J.S., R.S.P., P.B.M., J.Z., M.J.W., and D.A.S. All authors performed experiments and analyzed results. The manuscript was written primarily by L.S.O., D.K.M., J.-H.C., M.J.W., and D.A.S., with input from all authors. Competing interests: The University of Iowa Research Foundation and The Curators of the University of Missouri have filed the following patent applications (60/908,637; 60/966,971; PCT/US08/02886; 12/074,632; 12/283,980; Australia 2008233256; Canada 2,682,100; and Europe 08726424.8 entitled Transgenic Animal Models of Disease) related to the use of the animals described in this publication. M.J.W. and R.S.P. are listed as inventors. M.J.W. was a cofounder of Exemplar Genetics, a company licensing materials and technology related to this work. R.S.P. consults for Exemplar Genetics. None of the other authors declare any conflicts.