The Δ F508 Mutation Causes CFTR Misprocessing and Cystic Fibrosis–Like Disease in Pigs-Reference-Cited by-同舟云学术

The Δ F508 Mutation Causes CFTR Misprocessing and Cystic Fibrosis–Like Disease in Pigs

Published:2011-03-16 Issue:74 Volume:3 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Ostedgaard Lynda S.¹,Meyerholz David K.²,Chen Jeng-Haur¹³,Pezzulo Alejandro A.¹,Karp Philip H.¹³,Rokhlina Tatiana¹,Ernst Sarah E.¹,Hanfland Robert A.⁴,Reznikov Leah R.¹,Ludwig Paula S.¹,Rogan Mark P.¹,Davis Greg J.¹,Dohrn Cassie L.²,Wohlford-Lenane Christine⁵,Taft Peter J.¹,Rector Michael V.¹,Hornick Emma¹,Nassar Boulos S.¹,Samuel Melissa⁶,Zhang Yuping¹,Richter Sandra S.²,Uc Aliye⁵,Shilyansky Joel⁴,Prather Randall S.⁶,McCray Paul B.⁵,Zabner Joseph¹,Welsh Michael J.¹³,Stoltz David A.¹

Affiliation:

1. Department of Internal Medicine, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.

2. Department of Pathology, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.

3. Howard Hughes Medical Institute, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.

4. Department of Surgery, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.

5. Department of Pediatrics, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.

6. Division of Animal Sciences, University of Missouri, Columbia, MO 65211, USA.

Abstract

A common mutation in human cystic fibrosis, CFTR-ΔF508, results in misprocessed CFTR and a cystic fibrosis–like clinical phenotype in pigs.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

Reference51 articles.

1. M. J. Welsh B. W. Ramsey F. Accurso G. R. Cutting Cystic fibrosis in The Metabolic and Molecular Basis of Inherited Disease C. R. Scriver A. L. Beaudet W. S. Sly D. Valle B. Childs K. W. Kinzler and B. Vogelstein Eds. (McGraw-Hill New York 2001) pp. 5121–5189.

2. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

3. Intracellular turnover of cystic fibrosis transmembrane conductance regulator. Inefficient processing and rapid degradation of wild-type and mutant proteins.

4. Sequential Quality-Control Checkpoints Triage Misfolded Cystic Fibrosis Transmembrane Conductance Regulator

5. Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

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