Endoplasmic reticulum quality control regulates the fate of transthyretin variants in the cell

EMBO Journal

Volumn 26, Issue 10, 2007, Pages 2501-2512

  Sato, Takashi ^a   Susuki, Seiko ^a   Suico, Mary Ann ^a   Miyata, Masanori ^a   Ando, Yukio ^b   Mizuguchi, Mineyuki ^c   Takeuchi, Makoto ^c   Dobashi, Mizuki ^c   Shuto, Tsuyoshi ^a   Kai, Hirofumi ^a  

^a KUMAMOTO UNIVERSITY   (Japan)

^b KUMAMOTO UNIVERSITY   (Japan)

^c UNIVERSITY OF TOYAMA   (Japan)

Author keywords

Amyloidosis; ER quality control; Familial amyloid polyneuropathy (FAP); Transthyretin; TTR variants

Indexed keywords

CHAPERONE; GLUCOSE REGULATED PROTEIN 78; GLUCOSE REGULATED PROTEIN 94; PREALBUMIN;

AMYLOIDOSIS; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; FEMALE; HUMAN; HUMAN CELL; IN VITRO STUDY; MOLECULAR DYNAMICS; MUTATION; NONHUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN SECRETION; PROTEIN VARIANT; REGULATORY MECHANISM;

AMYLOID; AMYLOIDOSIS; ANIMALS; CARCINOMA, HEPATOCELLULAR; CELL LINE; CELL LINE, TUMOR; CHO CELLS; CRICETINAE; CRICETULUS; ENDOPLASMIC RETICULUM; HEAT-SHOCK PROTEINS; HSP90 HEAT-SHOCK PROTEINS; HUMANS; LIVER NEOPLASMS; MOLECULAR CHAPERONES; MUTATION; PREALBUMIN; PROTEIN FOLDING; UP-REGULATION; VARIATION (GENETICS);

EID: 34249076067     PISSN: 02614189     EISSN: 14602075     Source Type: Journal    
DOI: 10.1038/sj.emboj.7601685     Document Type: Article

References (21)

1. Adamski-Werner SL, Palaninathan SK, Sacchettini JC, Kelly JW (2004) Diflunisal analogues stabilize the native state of transthyretin. Potent inhibition of amyloidogenesis. J Med Chem 47: 355-374
2. Baures PW, Oza VB, Peterson SA, Kelly JW (1999) Synthesis and evaluation of inhibitors of transthyretin amyloid formation based on the non-steroidal anti-inflammatory drug, flufenamic acid. Bioorg Medicin Chem 7: 1339-1347
3. Coelho T, Carvalho M, Saraiva MJ, Alves I, Almeida MR, Costa PP (1993) A strikingly benign evolution of FAP in an individual compound heterozygote for two TTR mutations: TTR Met30 and TTR Met119. J Rheumatol 20: 179
4. Cohen FE, Kelly JW (2003) Therapeutic approaches to protein-misfolding diseases. Nature 426: 905-909
5. Connors LH, Lim A, Prokaeva T, Roskens VA, Costello CE (2003) Tabulation of human transthyretin (TTR) variants, 2003. Amyloid 10: 160-184
6. Ellgaard L, Helenius A (2003) Quality control in the endoplasmic reticulum. Nat Rev Mol Cell Biol 4: 181-191
7. Gething MJ (1999) Role and regulation of the ER chaperone BiP. Semin Cell Dev Biol 10: 465-472
8. Hamilton JA, Benson MD (2001) Transthyretin: a review from a structural perspective. Cell Mol Life Sci 58: 1491-1521
9. Hammarstrom P, Jiang X, Hurshman AR, Powers ET, Kelly JW (2002) Sequence-dependent denaturation energetics: a major determinant in amyloid disease diversity. Proc Natl Acad Sci USA 99 (Suppl 4): 16427-16432
10. Hammarstrom P, Schneider F, Kelly JW (2001) Trans-suppression of misfolding in an amyloid disease. Science 293: 2459-2462
11. Hammarstrom P, Sekijima Y, White JT, Wiseman RL, Lim A, Costello CE, Altland K, Garzuly F, Budka H, Kelly JW (2003) D18G transthyretin is monomeric, aggregation prone, and not detectable in plasma and cerebrospinal fluid: a prescription for central nervous system amyloidosis? Biochemistry 42: 6656-6663
12. Hampton RY (2002) ER-associated degradation in protein quality control and cellular regulation. Curr Opin Cell Biol 14: 476-482
13. Jiang X, Smith CS, Petrassi HM, Hammarstrom P, White JT, Sacchettini JC, Kelly JW (2001) An engineered transthyretin monomer that is nonamyloidogenic, unless it is partially denatured. Biochemistry 40: 11442-11452
14. Lai Z, Colon W, Kelly JW (1996) The acid-mediated denaturation pathway of transthyretin yields a conformational intermediate that can self-assemble into amyloid. Biochemistry 35: 6470-6482
15. Okiyoneda T, Harada K, Takeya M, Yamahira K, Wada I, Shuto T, Suico MA, Hashimoto Y, Kai H (2004) Delta F508 CFTR pool in the endoplasmic reticulum is increased by calnexin overexpression. Mol Biol Cell 15: 563-574
16. Reixach N, Deechongkit S, Jiang X, Kelly JW, Buxbaum JN (2004) Tissue damage in the amyloidoses: transthyretin monomers and nonnative oligomers are the major cytotoxic species in tissue culture. Proc Natl Acad Sci USA 101: 2817-2822
17. Saraiva MJ (2001) Transthyretin mutations in hyperthyroxinemia and amyloid diseases. Hum Mutat 17: 493-503
18. Sekijima Y, Hammarstrom P, Matsumura M, Shimizu Y, Iwata M, Tokuda T, Ikeda S, Kelly JW (2003) Energetic characteristics of the new transthyretin variant A25T may explain its atypical central nervous system pathology. Lab Invest 83: 409-417
19. Sekijima Y, Wiseman RL, Matteson J, Hammarstrom P, Miller SR, Sawkar AR, Balch WE, Kelly JW (2005) The biological and chemical basis for tissue-selective amyloid disease. Cell 121: 73-85
20. Sitia R, Braakman I (2003) Quality control in the endoplasmic reticulum protein factory. Nature 426: 891-894
21. Sorgjerd K, Ghafouri B, Jonsson BH, Kelly JW, Blond SY, Hammarstrom P (2006) Retention of misfolded mutant transthyretin by the chaperone BiP/GRP78 mitigates amyloidogenesis. J Mol Biol 356: 469-482