The biological and chemical basis for tissue-selective amyloid disease

Cell

Volumn 121, Issue 1, 2005, Pages 73-85

  Sekijima, Yoshiki ^a,c   Wiseman, R Luke ^a   Matteson, Jeanne ^b   Hammarström, Per ^a,d   Miller, Sean R ^a   Sawkar, Anu R ^a   Balch, William E ^b   Kelly, Jeffery W ^a  

^a Department of Cell and Molecular Biology   (United States)

^b SCRIPPS RESEARCH INSTITUTE   (United States)

^c SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d LINKÖPING UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID; CHAPERONE; PREALBUMIN;

AMYLOIDOSIS; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; DEGRADATION; ENDOPLASMIC RETICULUM; ENERGY TRANSFER; ENZYME LOCALIZATION; MAMMAL CELL; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN FOLDING; WILD TYPE;

MAMMALIA;

EID: 17044402604     PISSN: 00928674     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cell.2005.01.018     Document Type: Article

References (54)

1. Y. Ando, Y. Tanaka, M. Nakazato, B.G. Ericzon, T. Yamashita, K. Tashima, N. Sakashita, M. Suga, M. Uchino, and M. Ando Change in variant transthyretin levels in patients with familial amyloidotic polyneuropathy type I following liver transplantation Biochem. Biophys. Res. Commun. 211 1995 354 358
2. M.D. Benson Leptomeningeal amyloid and variant transthyretins Am. J. Pathol. 148 1996 351 354
3. V. Bernier, M. Lagace, D.G. Bichet, and M. Bouvier Pharmacological chaperones: potential treatment for conformational diseases Trends Endocrinol. Metab. 15 2004 222 228
4. D.G. Bole, L.M. Hendershot, and J.F. Kearney Posttranslational association of immunoglobulin heavy chain binding protein with nascent heavy chains in nonsecreting and secreting hybridomas J. Cell Biol. 102 1986 1558 1566
5. F.E. Cohen, and J.W. Kelly Therapeutic approaches to protein-misfolding diseases Nature 426 2003 905 909
6. W. Colon, and J.W. Kelly Partial denaturation of transthyretin is sufficient for amyloid fibril formation in vitro Biochemistry 31 1992 8654 8660
7. C.S. Copeland, R.W. Doms, E.M. Bolzau, R.G. Webster, and A. Helenius Assembly of influenza hemagglutinin trimers and its role in intracellular transport J. Cell Biol. 103 1986 1179 1191
8. P.W. Dickson, A.R. Aldred, J.G. Menting, P.D. Marley, W.H. Sawyer, and G. Schreiber Thyroxine transport in choroid plexus J. Biol. Chem. 262 1987 13907 13915
9. C.M. Dobson Protein folding and misfolding Nature 426 2003 884 890
10. F.E. Dwulet, and M.D. Benson Polymorphism of human plasma thyroxine binding prealbumin Biochem. Biophys. Res. Commun. 114 1983 657 662
11. F.E. Dwulet, and M.D. Benson Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuropathy of Swedish origin Proc. Natl. Acad. Sci. USA 81 1984 694 698
12. L. Ellgaard, M. Molinari, and A. Helenius Setting the standards: quality control in the secretory pathway Science 286 1999 1882 1888
13. J.Q. Fan A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity Trends Pharmacol. Sci. 24 2003 355 360
14. T.R. Fuerst, E.G. Niles, F.W. Studier, and B. Moss Eukaryotic transient-expression system based on recombinant vaccinia virus that synthesizes bacteriophage T7 RNA polymerase Proc. Natl. Acad. Sci. USA 83 1986 8122 8126
15. F. Garzuly Clinical characterizations of Hungarian-type familial meningo-cerebrovascular amyloidosis Orv. Hetil. 137 1996 2393 2399
16. F. Garzuly, R. Vidal, T. Wisniewski, F. Brittig, and H. Budka Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp18Gly) Neurology 47 1996 1562 1567
17. M.S. Gelman, and R.R. Kopito Cystic fibrosis: premature degradation of mutant proteins as a molecular disease mechanism Methods Mol. Biol. 232 2003 27 37
18. N.S. Green, S.K. Palaninathan, J.C. Sacchettini, and J.W. Kelly Synthesis and characterization of potent bivalent amyloidosis inhibitors that bind prior to transthyretin tetramerization J. Am. Chem. Soc. 125 2003 13404 13414
19. J.A. Hamilton, and M.D. Benson Transthyretin: a review from a structural perspective Cell. Mol. Life Sci. 58 2001 1491 1521
20. P. Hammarstrom, X. Jiang, A.R. Hurshman, E.T. Powers, and J.W. Kelly Sequence-dependent denaturation energetics: A major determinant in amyloid disease diversity Proc. Natl. Acad. Sci. USA 99 2002 16427 16432
21. P. Hammarstrom, Y. Sekijima, J.T. White, R.L. Wiseman, A. Lim, C.E. Costello, K. Altland, F. Garzuly, H. Budka, and J.W. Kelly D18G transthyretin is monomeric, aggregation prone, and not detectable in plasma and cerebrospinal fluid: a prescription for central nervous system amyloidosis? Biochemistry 42 2003 6656 6663
22. P. Hammarstrom, R.L. Wiseman, E.T. Powers, and J.W. Kelly Prevention of transthyretin amyloid disease by changing protein misfolding energetics Science 299 2003 713 716
23. T. Harkany, F. Garzuly, G. Csanaky, P.G. Luiten, C. Nyakas, R.P. Linke, and S. Viragh Cutaneous lymphatic amyloid deposits in "Hungarian-type" familial transthyretin amyloidosis: a case report Br. J. Dermatol. 146 2002 674 679
24. G. Holmgren, B.G. Ericzon, C.G. Groth, L. Steen, O. Suhr, O. Andersen, B.G. Wallin, A. Seymour, S. Richardson, and P.N. Hawkins Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis Lancet 341 1993 1113 1116
25. A.R. Hurshman, J.T. White, E.T. Powers, and J.W. Kelly Transthyretin aggregation under partially denaturing conditions is a downhill polymerization Biochemistry 43 2004 7365 7381
26. S. Ikeda Clinical picture and outcome of transthyretin-related familial amyloid polyneuropathy (FAP) in Japanese patients Clin. Chem. Lab. Med. 40 2002 1257 1261
27. D.R. Jacobson, D.E. McFarlin, I. Kane, and J.N. Buxbaum Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement Hum. Genet. 89 1992 353 356
28. X. Jiang, C.S. Smith, H.M. Petrassi, P. Hammarstrom, J.T. White, J.C. Sacchettini, and J.W. Kelly An engineered transthyretin monomer that is nonamyloidogenic, unless it is partially denatured Biochemistry 40 2001 11442 11452
29. J.W. Kelly Alternative conformations of amyloidogenic proteins govern their behavior Curr. Opin. Struct. Biol. 6 1996 11 17
30. J.M. Kowalski, R.N. Parekh, J. Mao, and K.D. Wittrup Protein folding stability can determine the efficiency of escape from endoplasmic reticulum quality control J. Biol. Chem. 273 1998 19453 19458
31. J.M. Kowalski, R.N. Parekh, and K.D. Wittrup Secretion efficiency in Saccharomyces cerevisiae of bovine pancreatic trypsin inhibitor mutants lacking disulfide bonds is correlated with thermodynamic stability Biochemistry 37 1998 1264 1273
32. U.K. Laemmli Cleavage of structural proteins during the assembly of the head of bacteriophage T4 Nature 227 1970 680 685
33. Z. Lai, W. Colon, and J.W. Kelly The acid-mediated denaturation pathway of transthyretin yields a conformational intermediate that can self-assemble into amyloid Biochemistry 35 1996 6470 6482
34. P. LaPointe, C. Gurkan, and W.E. Balch Mise en place - this bud's for the Golgi Mol. Cell 14 2004 413 414
35. H.A. Lashuel, C. Wurth, L. Woo, and J.W. Kelly The most pathogenic transthyretin variant, L55P, forms amyloid fibrils under acidic conditions and protofilaments under physiological conditions Biochemistry 38 1999 13560 13573
36. M.C. Lee, E.A. Miller, J. Goldberg, L. Orci, and R. Schekman Bi-directional protein transport between the ER and Golgi Annu. Rev. Cell Dev. Biol. 20 2004 87 123
37. G.J. Miroy, Z. Lai, H.A. Lashuel, S.A. Peterson, C. Strang, and J.W. Kelly Inhibiting transthyretin amyloid fibril formation via protein stabilization Proc. Natl. Acad. Sci. USA 93 1996 15051 15056
38. K. Mori Tripartite management of unfolded proteins in the endoplasmic reticulum Cell 101 2000 451 454
39. L.S. Musil, and D.A. Goodenough Multisubunit assembly of an integral plasma membrane channel protein, gap junction connexin43, occurs after exit from the ER Cell 74 1993 1065 1077
40. F. Omura, Y. Taniyama, and M. Kikuchi Behavior of cysteine mutants of human lysozyme in de novo synthesis and in vivo secretion Eur. J. Biochem. 198 1991 477 484
41. V. Plante-Bordeneuve, T. Lalu, M. Misrahi, M.M. Reilly, D. Adams, C. Lacroix, and G. Said Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy Neurology 51 1998 708 714
42. A.R. Sawkar, W.C. Cheng, E. Beutler, C.H. Wong, W.E. Balch, and J.W. Kelly Chemical chaperones increase the cellular activity of N370S beta-glucosidase: a therapeutic strategy for Gaucher disease Proc. Natl. Acad. Sci. USA 99 2002 15428 15433
43. Y. Sekijima, P. Hammarstrom, M. Matsumura, Y. Shimizu, M. Iwata, T. Tokuda, S. Ikeda, and J.W. Kelly Energetic characteristics of the new transthyretin variant A25T may explain its atypical central nervous system pathology Lab. Invest. 83 2003 409 417
44. E.V. Shusta, M.C. Kieke, E. Parke, D.M. Kranz, and K.D. Wittrup Yeast polypeptide fusion surface display levels predict thermal stability and soluble secretion efficiency J. Mol. Biol. 292 1999 949 956
45. F.M. Spagnoli, L. Amicone, M. Tripodi, and M.C. Weiss Identification of a bipotential precursor cell in hepatic cell lines derived from transgenic mice expressing cyto-Met in the liver J. Cell Biol. 143 1998 1101 1112
46. F.W. Studier, A.H. Rosenberg, J.J. Dunn, and J.W. Dubendorff Use of T7 RNA polymerase to direct expression of cloned genes Methods Enzymol. 185 1990 60 89
47. O.B. Suhr, B.G. Ericzon, and S. Friman Long-term follow-up of survival of liver transplant recipients with familial amyloid polyneuropathy (Portuguese type) Liver Transpl. 8 2002 787 794
48. Y. Taniyama, K. Ogasahara, K. Yutani, and M. Kikuchi Folding mechanism of mutant human lysozyme C77/95A with increased secretion efficiency in yeast J. Biol. Chem. 267 1992 4619 4624
49. E.J. Tisdale, J.R. Bourne, R. Khosravi-Far, C.J. Der, and W.E. Balch GTP-binding mutants of rab1 and rab2 are potent inhibitors of vesicular transport from the endoplasmic reticulum to the Golgi complex J. Cell Biol. 119 1992 749 761
50. M.R. Wallace, F.E. Dwulet, P.M. Conneally, and M.D. Benson Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis J. Clin. Invest. 78 1986 6 12
51. X. Wang, J. Matteson, Y. An, B. Moyer, J.S. Yoo, S. Bannykh, I.A. Wilson, J.R. Riordan, and W.E. Balch COPII-dependent export of cystic fibrosis transmembrane conductance regulator from the ER uses a di-acidic exit code J. Cell Biol. 167 2004 65 74
52. P. Westermark, K. Sletten, B. Johansson, and G.G. Cornwell 3rd. Fibril in senile systemic amyloidosis is derived from normal transthyretin Proc. Natl. Acad. Sci. USA 87 1990 2843 2845
53. S. Wickner, M.R. Maurizi, and S. Gottesman Posttranslational quality control: folding, refolding, and degrading proteins Science 286 1999 1888 1893
54. W. Zheng, and Q. Zhao Establishment and characterization of an immortalized Z310 choroidal epithelial cell line from murine choroid plexus Brain Res. 958 2002 371 380