Defects in processing and trafficking of the cystic fibrosis transmembrane conductance regulator

Kidney International

Volumn 57, Issue 3, 2000, Pages 825-831

  Skach, William R ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

Biogenesis; CFTR; Cystic fibrosis; Endoplasmic reticulum; Ion channel; Topology

Indexed keywords

CHLORIDE CHANNEL; ION CHANNEL; TRANSMEMBRANE CONDUCTANCE REGULATOR;

CONFERENCE PAPER; CYSTIC FIBROSIS; ENDOPLASMIC RETICULUM; GENE MUTATION; HUMAN; MEMBRANE STRUCTURE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN FOLDING; PROTEIN PROCESSING; PROTEIN TRANSPORT;

EID: 0033917142     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1755.2000.00921.x     Document Type: Conference Paper

References (42)

1. COLLINS FS: Cystic fibrosis: Molecular biology and therapeutic implications. Science 256:774-779, 1992 '
2. STUTTS MJ, CANESSA C, OLSEN J, HAMRICK M, COIIN J, ROSSIER B, BOUCHER R: CFTR as a cAMP-dependent regulator of sodium channels. Science 269:847-850, 1995
3. SCHWIEBERT E, EGAN M, HWANG T, FULMER S, ALLEN S, CUTTING G, GuGGiNO \V: CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP. Cell 81:1063-1073, 1995
4. BOAT T, WELSH M, BEAUDET A: The Metabolic Basis of Inherited Disease. New York, McGraw-Hill, 19S9, pp 2649-2680
5. MORALES M, CARROLL T, MORITA T, SCHWIEBERT E, DEVUYST O, WILSON P, LOPES A, STANTON B, DIETZ H, CUTTING G, GUGGINO W: Both wild type and a functional isoform of CFTR arc expressed in kidney. Am J Physiol 270(Renal Fluid Electrolyte Pliysiol 39):F103S-F104S, 1996
6. STANTON B: Cystic fibrosis transmembrane conductance regulator (CFTR) and renal function. Wein Klin Woclienschr 109/12-13:457464, 1997
7. HANAOKA K, DEVUYST O, SCHWIEBERT E, WILSON P, GUGGINO W: A role for CFTR in human autosomal dominant polycystic kidney disease. Am J Pliysiol 270:C389-C399, 1996
8. BRILL S, Ross K, DAVIDOW C, YE M, GRANTIIAM J, CAPLAN M: Immunolocalization of ion transport proteins in human autosomal dominant polycystic kidney epithelial cells. Proc Nail Acad Sei USA 93:10206-10211, 1996
9. CYSTIC FIBROSIS CONSORTIUM ANALYSIS: Cystic Fibrosis Mutation Data Base. \vwn:genet.sickkids.on.ca/cflr, I99S
10. WELSH M, SMITH A: Molecular mechanisn of CFTR chloride channel dysfunction in cystic fibrosis. Cell 73:1251-1254, 1993
11. CHENG SH, GREGORY RJ, MARSHALL J, PAUL S, SOUZA DW, WHITE GA, O'RiORDAN CR, SMITH AE: Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 63:827-834, 1990
12. RlORDAN JR, ROMMENS JM, KEREM B-S, ALON N, ROZMAIIEL R, GRZELCZAK Z, ZIELENSKI J, LOK S, COLLINS FS, Tsui L-C: Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA. Science 245:1066-1072, 19S9
13. Lu Y, XIONG X, BRAGIN A, KAMANI K, SKACII W: Co- and posttranslational mechanisms direct CFTR N-terminus transmembrane assembly. J Dial Cliem 273:568-576, 1997
14. OSTEDGAARD L, RICH D, DEBERG L, WELSH M: Association of domains within the cystic fibrosis transmembrane conductance regulator. Biochemistry 36:1287-1294, 1997
15. FIND S, RIORDAN J, WILLIAMS D: Participation of the endoplasmic reticulum chaperone calnexin (pSS, IP90) in the biogenesis of the cystic fibrosis transmembrane conductance regulator. J Biol Client 269:12784-12788, 1994
16. YANG Y, JANACII S, COHN J, WILSON J: The common variant of cystic fibrosis transmembrane conductance regulator is recognized by hsp70 and degraded in a pre-Golgi nonlysosomal compartment. Proc Natl Acail Sei USA 90:9480-9484, 1993
17. KOPITO R: ER quality control: The cytoplasmic connection. Cell 88:427-430, 1997
18. WARD C, OMURA C, Komo R: Degradation of CFTR by the ubiquitin-proteosome pathway. Cell 83:121-128, 1995
19. JENSEN T, Loo M, FIND S, WILLIAMS D, GOLDBERG A, RIORDAN J: Multiple proteolytic systems, including the proteosome, contribute to CFTR processing. Cell 83:129-136, 1995
20. WARD C, KOPITO R: Intracellular turnover of cystic fibrosis transmembrane conductance regulator. J Biol Client 269:25710-25718, 1994
21. DENNINGG, ANDERSONM, AMARAJ, MARSHALL J, SMITH A, WELSH M: Processing of mutant cytsic fibrosis transmembrane conductance regulator is temperature-sensitive. Nature 358:761-763,1992
22. SATO S, WARD C, KROUSE M, WINE J, KOPITO R: Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation. J Bio! Client 271:635-638, 1996
23. BROWN CR, HONG-BROWN L, BIWERSI J, VERKMAN A, WELCH W: Chemical chaperones correct the mutant phenotype of the AF50S cystic fibrosis transmembrane conductance regulator protein. Cell Stress Chaperones 1:117-125, 1996
24. ALBERTS B, BRAY D, LEWIS J, RATE M, ROBERTS K, WATSON J: Molecular Biology of the Cell. New York, Garland Publishing, 1994, pp 577-589
25. WALTER P, BLOBEL G: Translocation of proteins across the endoplasmic reticulum II. Signal recognition protein (SRP) mediates the selective binding to microsomal membranes of in-vitro assembled polysomes synthesizing secretory protein. J Cell Biol 91:551-556, 1981
26. CROWLEY K, LIAO S, WORRELL V, REINHART G, JOHNSON A: Secretory proteins move through the endoplasmic reticulum membrane via an aqueous, gated pore. Cell 78:461-471, 1994
27. SIMON SM, BLOBEL G: A protein-conducting channel in the endoplasmic reticulum. Cell 65:371-380, 1991
28. JUNGNICKEL B, RAPOPORT T: A posttargcting signal sequence recognition event in the endoplasmic reticulum membrane. Cell 82:261270, 1995
29. MOTHES W, HEINRICH S, GRAF R, NILSSON I, VON HEIJNE G, BRUNNER J, RAPOPORT T: Molecular mechanism of membrane protein integration into the endoplasmic reticulum. Cell 89:523-533, 1997
30. LIAO S, LIN J, Do H, JOHNSON A: Both lumenal and cytosolic gating of the aqueous transocon pore are regulated from inside the ribosome during membrane protein integration. Cell 90:31-42, 1997
31. Do H, FALCONE D, LIN J, ANDREWS D, JOHNSON A: The cotranslational integration of membrane proteins into the phospholipid bilayer is a multistep process. Cell 85:369-378, 1996
32. NG D, BROWN J, WALTER P: Signal sequences specify the targeting route to the endoplasmic reticulum membrane./ Cell Biol 134:269278, 1996
33. XIONG X, BRAGIN A, WIDDICOMBE J, COHN J, SKACH W: Structural cues involved in ER dégradation of G85E and G91R mutant CFTR. J Clin Invest 100:1079-1088, 1997
34. XIONG X, BRAGIN A, SKACH W: Evidence that degradation of mutant CFTR involves interactions betw een multiple domains. Pédiatrie Piilnwnol Suppl 13:210, 1996
35. PASYK E, FOSKETT K: Mutant (AF50S) cystic fibrosis transmembrane conductance regulator Cl" channel is functional when retained in the endoplasmic reticulum of mammalian cells. J Biol Clicm 270:12347-12350, 1995
36. SOMMER T, WOLF D: Endoplasmic reticulum: Reverse protein flow of no return. FASEB J 11:1227-1233, 1997
37. CIECHANOVER A: The ubiquitin-proteasome pathway. Cell 79:1321, 1994
38. BRODSKV J, MCCRACKEN A: ER-asociated and proteasome-mediated protein degradation: How two topologically restricted events came together. Trends Cell Biol 7:151-155, 1997
39. SATO S, WARD C, KOPITO R: Cotranslational ubiquitination of cystic fibrosis transmembrane conductance regulator. In Vitro J Biol Cliem 273:7189-7192, 1998
40. XIONG X, CHONG E, SKACH \V: Evidence that endoplasmic reticulum (ER)-associated degradation of cystic fibrosis transmembrane conductance regulator is linked to retrograde translocation from the ER membrane. J Biol Cliem 274:2616-2624, 1999
41. RivETTAJ, PALMER A, KNECHT E: Electron microscopic localization of the multicatalytic proteinase complex in rat liver and in cultured cells. J Histochcm Cytochem 40:1165-1172, 1992
42. HUFFMAN L, RECHSTEINER M: Nucleotidase activities of the 26 S proteasome and its regulatory complex. J Biol Chem 271:3253832545, 1996