Diagnosis and therapeutic approaches to transthyretin amyloidosis

Current Medicinal Chemistry

Volumn 19, Issue 15, 2012, Pages 2312-2323

  Ando, Y ^a   Ueda, M ^a  

^a KUMAMOTO UNIVERSITY   (Japan)

Author keywords

Amyloidosis; ATTR amyloidosis; Gene therapy; Immunotherapy; Senile systemic amyloidosis; Transthyretin

Indexed keywords

4' IODOESORUBICIN; AMYLOID; DIFLUNISAL; DOXYCYCLINE; FLUFENAMIC ACID; PREALBUMIN; TAFAMIDIS; TAUROURSODEOXYCHOLIC ACID;

AMYLOIDOSIS; ANTISENSE THERAPY; ARTICLE; BINDING AFFINITY; CENTRAL NERVOUS SYSTEM DISEASE; DIABETIC RETINOPATHY; ELECTROSPRAY MASS SPECTROMETRY; EYE DISEASE; FAMILIAL AMYLOID POLYNEUROPATHY; FAMILIAL AMYLOIDOSIS; FAMILY HISTORY; GENE CONVERSION; GENE DELETION; GENE MUTATION; GENE REPRESSION; GENE SILENCING; GENE THERAPY; GENETIC ANALYSIS; GENETIC SCREENING; HEART AMYLOIDOSIS; HEREDITARY AMYLOIDOGENIC TRANSTHYRATE AMYLOIDOSIS; HEREDITARY AMYLOIDOGENIC TRANSTHYRETIN AMYLOIDOSIS; HIGH THROUGHPUT SCREENING; HISTOPATHOLOGY; HUMAN; IMMUNOTHERAPY; LASER COAGULATION; LASER MICRODISSECTION; LIVER TRANSPLANTATION; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; MORTALITY; NONHUMAN; OVERALL SURVIVAL; PHASE 2 CLINICAL TRIAL (TOPIC); PHASE 3 CLINICAL TRIAL (TOPIC); PROTEIN FUNCTION; PROTEIN MALNUTRITION; PROTEIN STRUCTURE; PROTEOMICS; RETINA MACULA DEGENERATION; RETINA VEIN OCCLUSION; SEPSIS; VISUAL DISORDER; WILD TYPE;

EID: 84860690919     PISSN: 09298673     EISSN: 1875533X     Source Type: Journal    
DOI: 10.2174/092986712800269317     Document Type: Article

References (120)

1. Merlini, G.; Westermark, P. The systemic amyloidoses: Clearer understanding of the molecular mechanisms offers hope for more effective therapies. J. Intern. Med., 2004, 255(2), 159-178. (Pubitemid 38241361)
2. Benson, M.D. In: A Textbook of Rheumatology; Koopman WJ, Ed.; Lippincott Williams & Wilkins: Philadelphia, 2001; pp. 1866-1895.
3. Sipe, J.D.; Benson, M.D.; Buxbaum, J.N.; Ikeda, S.; Merlini, G.; Saraiva, M.J.; Westermark, P. Amyloid fibril protein nomenclature: 2010 recommendations from the nomenclature committee of the International Society of Amyloidosis. Amyloid, 2010, 17(3-4), 101-104.
4. Ando, Y.; Nakamura, M.; Araki, S. Transthyretin-related familial amyloidotic polyneuropathy. Arch. Neurol., 2005, 62(7), 1057-1062. (Pubitemid 41043725)
5. Benson, M.D.; Kincaid, J.C. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve, 2007, 36(4), 411-423. (Pubitemid 47512065)
6. Connors, L.H.; Lim, A.; Prokaeva, T.; Roskens, V.A.; Costello, C.E. Tabulation of human transthyretin (TTR) variants, 2003. Amyloid, 2003, 10(3), 160-184. (Pubitemid 37372400)
7. Westermark, P.; Bergström, J.; Solomon, A.; Murphy, C.; Sletten, K. Transthyretin-derived senile systemic amyloidosis: Clinicopathologic and structural considerations. Amyloid, 2003, 10(Suppl 1), 48-54. (Pubitemid 37372567)
8. Holmgren G, Steen L, Ekstedt J, Groth CG, Ericzon BG, Eriksson S, Andersen O, Karlberg I, Nordén G, Nakazato M, et al. Hawkins, P.; Richardson, S.; Pepys, M. Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30). Clin. Genet., 1991; 40(3), 242-6.
9. Ando, Y.; Suhr, O.; Tahsima, K.; Uchino, M.; Ando, M. Liver transplantation in Japanese patients with familial amyloidotic polyneuropathy. Lancet, 1997, 350(9077), 593-594. (Pubitemid 27348450)
10. Yamamoto, S.; Wilczek, H.E.; Nowak, G.; Larsson, M.; Oksanen, A.; Iwata, T.; Gjertsen, H.; Söderdahl, G.; Wikström, L.; Ando, Y.; Suhr, O.B.; Ericzon, B.G. Liver transplantation for familial amyloidotic polyneuropathy (FAP): A single-center experience over 16 years. Am. J. Transplant., 2007, 7(11), 2597-2604. (Pubitemid 47561612)
11. Okamoto, S.; Wixner, J.; Obayashi, K.; Ando, Y.; Ericzon, B.G.; Friman, S.; Uchino, M.; Suhr, O.B. Liver transplantation for familial amyloidotic polyneuropathy: Impact on Swedish patients' survival. Liver Transpl., 2009, 15(10), 1229-1235.
12. Ando, Y.; Nakamura, M.; Ueda, M.; Jono, H. In: Recent Advances in Transthyretin Evolution, Structure and Biological Functions, Richardson S, Cody V, Eds.; Springer, Verlag Berlin Heidelberg, 2009; pp. 215-238.
13. Kabat, E.A.; Moore, D.H.; Landow, H. An electrophoretic study of the protein components in cerebrospinal fluid and their relationship to the serum proteins. J. Clin. Invest., 1942, 21(5), 571-577.
14. Seibert, F.B.; Nelson, J.W. Electrophoretic study of the blood. protein response in tuberculosis. J. Biol. Chem., 1942, 143(1), 29-38.
15. Ngbar, S.H. Pre-albumin: A thyroxinebinding protein of human plasma. Endocrinology, 1958, 63(2), 256-259.
16. Kanai, M.; Raz, A.; Goodman, D.S. Retinol-binding protein: The transport protein for vitamin A in human plasma. J. Clin. Invest., 1968, 47(9), 2025-2044.
17. Buxbaum, J.N.; Reixach, N. Transthyretin: The servant of many masters. Cell Mol. Life. Sci., 2009, 66(19), 3095-3101.
18. Smith, F.R.; Goodman, D.S. The effects of diseases of the liver, thyroid, and kidneys on the transport of vitamin A in human plasma. J. Clin. Invest., 1971, 50(11), 2426-2436.
19. Aleshire, S.L.; Bradley, C.A.; Richardson, L.D.; Parl, F.F. Localization of human prealbumin in choroid plexus epithelium. J. Histochem. Cytochem., 1983, 31(5), 608-612. (Pubitemid 13041732)
20. Dickson, P.W.; Schreiber, G. High levels of messenger RNA for transthyretin (prealbumin) in human choroid plexus. Neurosci. Lett., 1986, 66(3), 311-315. (Pubitemid 16038516)
21. Ong, D.E.; Davis, J.T.; O'Day, W.T.; Bok, D. Synthesis and secretion of retinol-binding protein and transthyretin by cultured retinal pigment epithelium. Biochemistry, 1994, 33(7), 1835-1842. (Pubitemid 24089713)
22. Kawaji, T.; Ando, Y.; Nakamura, M.; Yamamoto, K.; Ando, E.; Takano, A.; Inomata, Y.; Hirata, A.; Tanihara, H. Transthyretin synthesis in rabbit ciliary pigment epithelium. Exp. Eye. Res., 2005, 81(3), 306-312. (Pubitemid 41208165)
23. Vahlquist, A.; Peterson, P.A.; Wibell, L. Metabolism of the viatmin A transporting protein complex. I. Turnover studies in normal persons and in patients with chronic renal failure. Eur. J. Clin. Invest., 1973, 3(4), 352-362.
24. Makover, A.; Moriwaki, H.; Ramakrishnan, R.; Saraiva, M.J.; Blaner, W.S.; Goodman, D.S. Plasma transthyretin. Tissue sites of degradation and turnover in the rat. J. Biol. Chem., 1988, 263(18), 8598-8603.
25. Myron, Johnson, A.; Merlini, G.; Sheldon, J.; Ichihara, K. Clinical indications for plasma protein assays: Transthyretin (prealbumin) in inflammation and malnutrition. Clin. Chem. Lab. Med., 2007, 45(3), 419-426.
26. Cohen, F.E.; Kelly, J.W. Therapeutic approaches to protein-misfolding diseases. Nature, 2003, 426(6968), 905-909. (Pubitemid 38056884)
27. Andrade, C. A peculiar form of peripheral neuropathy: Familial generalized amyloidosis with special involvement of the peripheral nerves. Brain, 1952, 75(3), 408-427.
28. Araki, S.; Mawatari, S.; Ohta, M.; Nakajima, A.; Kuroiwa, Y. Polyneurotic amyloidosis in a Japanese family. Arch. Neurol., 1968, 18(6), 593-602.
29. Andersson, R. Familial amyloidosis with polyneuropathy. A clinical study based on patients living in northern Sweden. Acta. Med. Scand., 1976, 590, 1-64.
30. Holmgren, G.; Costa, P.M.; Andersson, C.; Asplund, K.; Steen, L.; Beckman, L.; Nylander, P.O.; Teixeira, A.; Saraiva, M.J.; Costa, P.P. Geographical distribution of TTR met30 carriers in northern Sweden: Discrepancy between carrier frequency and prevalence rate. J. Med. Genet., 1994, 31(5), 351-354.
31. Coelho, T.; Sousa, A.; Lourenco, E.; Ramalheira, J. A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected. J. Med. Genet., 1994, 31(4), 293-299. (Pubitemid 24127528)
32. Araki, S.; Ando, Y. Transthyretin-related familial amyloidotic polyneuropathy-Progress in Kumamoto, Japan (1967-2010)-. Proc. Jpn. Acad. Ser. B. Phys. Biol. Sci., 2010, 86(7), 694-706.
33. Misu, K.; Hattori, N.; Nagamatsu, M.; Ikeda, S.; Ando, Y.; Nakazato, M.; Takei, Y.; Hanyu, N.; Usui, Y.; Tanaka, F.; Harada, T.; Inukai, A.; Hashizume, Y.; Sobue, G. Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features. Brain, 1999, 122(10), 951-1962.
34. Koike, H.; Misu, K.; Ikeda, S.; Ando, Y.; Nakazato, M.; Ando, E.; Yamamoto, M.; Hattori, N.; Sobue, G. Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: Early-vs late-onset form. Arch. Neurol., 2002, 59(11), 1771-1776. (Pubitemid 35340488)
35. Koike, H.; Misu, K.; Sugiura, M.; Iijima, M.; Mori, K.; Yamamoto, M.; Hattori, N.; Mukai, E.; Ando, Y.; Ikeda, S.; Sobue, G. Pathology of early-vs late-onset TTR Met30 familial amyloid polyneuropathy. Neurology, 2004, 63(1), 129-138. (Pubitemid 38943790)
36. Ohmori, H.; Ando, Y.; Makita, Y.; Onouchi, Y.; Nakajima, T.; Saraiva, M.J.; Terazaki, H.; Suhr, O.; Sobue, G.; Nakamura, M.; Yamaizumi, M.; Munar-Ques, M.; Inoue, I.; Uchino, M.; Hata, A. Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy. J. Med. Genet., 2004, 41(4), e51.
37. Rapezzi, C.; Quarta, C.C.; Riva, L.; Longhi, S.; Gallelli, I.; Lorenzini, M.; Ciliberti, P.; Biagini, E.; Salvi, F.; Branzi, A. Transthyretin-related amyloidoses and the heart: A clinical overview. Nat. Rev. Cardiol., 2010, 7(7), 398-408.
38. Rapezzi, C.; Merlini, G.; Quarta, C.C.; Riva, L.; Longhi, S.; Leone, O.; Salvi, F.; Ciliberti, P.; Pastorelli, F.; Biagini, E.; Coccolo, F.; Cooke, R.M.; Bacchi-Reggiani, L.; Sangiorgi, D.; Ferlini, A.; Cavo, M.; Zamagni, E.; Fonte, M.L.; Palladini, G.; Salinaro, F.; Musca, F.; Obici, L.; Branzi, A.; Perlini, S. Systemic cardiac amyloidoses: Disease profiles and clinical courses of the 3 main types. Circulation, 2009, 120(13), 1203-1212.
39. Sueyoshi, T.; Ueda, M.; Jono, H.; Irie, H.; Sei, A.; Ide, J.; Ando, Y.; Mizuta, H. Wild-type transthyretin-derived amyloidosis in various ligaments and tendons. Hum. Pathol., 2011, 42(9), 1259-1264.
40. Cornwell, G.G. 3rd.; Murdoch, W.L.; Kyle, R.A.; Westermark, P.; Pitkänen, P. Frequency and distribution of senile cardiovascular amyloid. A clinicopathologic correlation. Am. J. Med., 1983, 75(4), 618-623. (Pubitemid 13012155)
41. Westermark, P.; Johansson, B.; Natvig, J.B. Senile cardiac amyloidosis: Evidence of two different amyloid substances in the ageing heart. Scand. J. Immunol., 1979, 10(4), 303-308. (Pubitemid 10196246)
42. Tanskanen, M.; Peuralinna, T.; Polvikoski, T.; Notkola, I.L.; Sulkava, R.; Hardy, J.; Singleton, A.; Kiuru-Enari, S.; Paetau, A.; Tienari, P.J.; Myllykangas, L. Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2-macroglobulin and tau: A population-based autopsy study. Ann. Med., 2008, 40(3), 232-239. (Pubitemid 351482541)
43. Bergström, J.; Gustavsson, A.; Hellman, U.; Sletten, K.; Murphy, C.L.; Weiss, D.T.; Solomon, A.; Olofsson, B.O.; Westermark, P. Amyloid deposits in transthyretin-derived amyloidosis: Cleaved transthyretin is associated with distinct amyloid morphology. J. Pathol., 2005, 206(2), 224-232. (Pubitemid 40754027)
44. Jacobson, D.R.; Pastore, R.D.; Yaghoubian, R.; Kane, I.; Gallo, G.; Buck, F.S.; Buxbaum, J.N. Variant-sequence transthyretin (isoleucine 122) in lateonset cardiac amyloidosis in black Americans. N. Engl. J. Med., 1997, 336(7), 466-473. (Pubitemid 27074357)
45. Yamashita, T.; Hamidi, Asl, K.; Yazaki, M.; Benson, M.D. A prospective evaluation of the transthyretin Ile122 allele frequency in an African-American population. Amyloid, 2005, 12(2), 127-130. (Pubitemid 40978722)
46. Koike, H.; Hashimoto, R.; Tomita, M.; Kawagashira, Y.; Iijima, M.; Tanaka, F.; Sobue, G. Diagnosis of sporadic transthyretin Val30Met familial amyloid polyneuropathy: A practical analysis. Amyloid, 2011, 18(2), 53-62.
47. Plante-Bordeneuve, V.; Ferreira, A.; Lalu, T.; Zaros, C.; Lacroix, C.; Adams, D.; Said, G. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology, 2007, 69(7), 693-698. (Pubitemid 47256013)
48. Ando, Y. Liver transplantation and new therapeutic approaches for familial amyloidotic polyneuropathy (FAP). Med. Mol. Morphol., 2005, 38(3), 142-154. (Pubitemid 351543869)
49. Ando, Y.; Haraoka, K.; Terazaki, H.; Tanoue, Y.; Ishikawa, K.; Katsuragi, S.; Nakamura, M.; Sun, X.; Nakagawa, K.; Sasamoto, K.; Takesako, K.; Ishizaki, T.; Sasaki, Y.; Doh-ura, K. A novel tool for detecting amyloid deposits in systemic amyloidosis in vitro and in vivo. Lab. Invest., 2003, 83(12), 1751-1759. (Pubitemid 38018538)
50. Higuchi, M.; Iwata, N.; Matsuba, Y.; Sato, K.; Sasamoto, K.; Saido, T.C. 19F and 1H MRI detection of amyloid beta plaques in vivo. Nat. Neurosci., 2005, 8(4), 527-533. (Pubitemid 41007572)
51. Gertz, M.A. The classification and typing of amyloid deposits. Am. J. Clin. Pathol., 2004, 121(6), 787-789. (Pubitemid 38669269)
52. Murphy, C.L.; Eulitz, M.; Hrncic, R.; Sletten, K.; Westermark, P.; Williams, T.; Macy, S.D.; Wooliver, C.; Wall, J.; Weiss, D.T.; Solomon, A. Chemical typing of amyloid protein contained in formalin-fixed paraffin-embedded biopsy specimens. Am. J. Clin. Pathol., 2001, 116(1), 135-142. (Pubitemid 32601138)
53. Linke, R.P.; Oos, R.; Wiegel, N.M.; Nathrath, W.B. Classification of amyloidosis: Misdiagnosing by way of incomplete immunohistochemistry and how to prevent it. Acta. Histochem., 2006, 108(3), 197-208. (Pubitemid 44015876)
54. Ando, Y.; Ohlsson, P.I.; Suhr, O.; Nyhlin, N.; Yamashita, T.; Holmgren, G.; Danielsson, A.; Sandgren, O.; Uchino, M.; Ando, M. A new simple and rapid screening method for variant transthyretin-related amyloidosis. Biochem. Biophys. Res. Commun., 1996, 228(2), 480-483. (Pubitemid 26396098)
55. Ando, Y.; Suhr, O.; Yamashita, T.; Ohlsson, P.I.; Holmgren, G.; Obayashi, K.; Terazaki, H.; Mambule, C.; Uchino, M.; Ando, M. Detection of different forms of variant transthyretin (Met30) in cerebrospinal fluid. Neurosci. Lett., 1997, 238(3), 123-126. (Pubitemid 28034338)
56. Terazaki, H.; Ando, Y.; Misumi, S.; Nakamura, M.; Ando, E.; Matsunaga, N.; Shoji, S.; Okuyama, M.; Ideta, H.; Nakagawa, K.; Ishizaki, T.; Ando, M.; Saraiva, M.J. A novel compound heterozygote (FAP ATTR Arg104His/ATTR Val30Met) with high serum transthyretin (TTR) and retinol binding protein (RBP) levels. Biochem. Biophys. Res. Commun., 1999, 264(2), 365-370. (Pubitemid 29516093)
57. Terazaki, H.; Ando, Y.; Nakamura, M.; Obayashi, K.; Misumi, S.; Shoji, S.; Yamashita, S.; Nakagawa, K.; Ishizaki, T.; Suhr, O.; Uemoto, S.; Inomata, Y.; Tanaka, K. Variant transthyretin in blood circulation can transverse the blood-cerebrospinal barrier: Qualitative analyses of transthyretin metabolism in sequential liver transplantation. Transplantation, 2001, 72(2), 296-299. (Pubitemid 32729352)
58. Ueda, M.; Misumi, Y.; Mizuguchi, M.; Nakamura, M.; Yamashita, T.; Sekijima, Y.; Ota, K.; Shinriki, S.; Jono, H.; Ikeda, S.I.; Suhr, O.B.; Ando, Y. SELDI-TOF MS evaluation of variant transthyretins for diagnosis and pathogenesis of familial amyloidotic polyneuropathy. Clin. Chem., 2009, 55(6), 1223-1227.
59. Theberge, R.; Connors, L.; Skare, J.; Skinner, M.; Falk, R.H.; Costello, C.E. A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient. Amyloid, 1999, 6(1), 54-58. (Pubitemid 29249936)
60. Haraoka, K.; Ando, Y.; Ando, E.; Sun, X.; Nakamura, M.; Terazaki, H.; Misumi, S.; Tanoue, Y.; Tajiri, T.; Shoji, S.; Ishizaki, T.; Okabe, H.; Tanihara, H. Presence of variant transthyretin in aqueous humor of a patient with familial amyloidotic polyneuropathy after liver transplantation. Amyloid, 2002, 9(4), 247-251. (Pubitemid 36132520)
61. Suhr, O.B.; Svendsen, I.H.; Ohlsson, P.I.; Lendoire, J.; Trigo, P.; Tashima, K.; Ranlov, P.J.; Ando, Y. Impact of age and amyloidosis on thiol conjugation of transthyretin in hereditary transthyretin amyloidosis. Amyloid, 1999, 6(3), 187-191. (Pubitemid 29483010)
62. Kaplan, B.; Shtrasburg, S.; Pras, M. Micropurification techniques in the analysis of amyloid proteins. J. Clin. Pathol., 2003, 56(2), 86-90. (Pubitemid 36177248)
63. Kaplan, B.; Martin, B.M.; Livneh, A.; Pras, M.; Gallo, G.R. Biochemical subtyping of amyloid in formalin-fixed tissue samples confirms and supplements immunohistologic data. Am. J. Clin. Pathol., 2004, 121(6), 794-800. (Pubitemid 38669271)
64. Rocken, C.; Wilhelm, S. Influence of tissue fixation on the microextraction and identification of amyloid proteins. J. Lab. Clin. Med., 2005, 146(4), 244-250. (Pubitemid 41376590)
65. Vrana, J.A.; Gamez, J.D.; Madden, B.J.; Theis, J.D.; Bergen, H.R. 3rd.; Dogan, A. Classification of amyloidosis by laser microdissection and mass spectrometry-based proteomic analysis in clinical biopsy specimens. Blood, 2009, 114(24), 4957-4959.
66. Klein, C.J.; Vrana, J.A.; Theis, J.D.; Dyck, P.J.; Spinner, R.J.; Mauermann, M.L.; Bergen, H.R. 3rd.; Zeldenrust, S.R.; Dogan, A. Mass spectrometricbased proteomic analysis of amyloid neuropathy type in nerve tissue. Arch. Neurol., 2011, 68(2), 195-199.
67. Roden, A.C.; Aubry, M.C.; Zhang, K.; Brady, J.O.; Levin, D.; Dogan, A.; Yi, E.S. Nodular senile pulmonary amyloidosis: A unique case confirmed by immunohistochemistry, mass spectrometry, and genetic study. Hum. Pathol., 2010, 41(7), 1040-1045.
68. Brambilla, F.; Lavatelli, F.; Di, Silvestre, D.; Valentini, V.; Rossi, R.; Palladini, G.; Obici, L.; Verga, L.; Mauri, P.; Merlini G. Reliable typing of systemic amyloidoses through proteomic analysis of subcutaneous adipose tissue. Blood, 2011 (Epub ahead of print
69. Sekijima, Y.; Kelly, J.W.; Ikeda, S. Pathogenesis of and therapeutic strategies to ameliorate the transthyretin amyloidoses. Curr. Pharm. Des., 2008, 14(30), 3219-3230.
70. Ratner, M. Spotlight focuses on protein-misfolding therapies. Nat. Biotechnol., 2009, 27(10), 874.
71. Skinner, M.; Lewis, W.D.; Jones, L.A.; Kasirsky, J.; Kane, K.; Ju, S.T.; Jenkins, R.; Falk, R.H.; Simms, R.W.; Cohen, A.S. Liver transplantation as a treatment for familial amyloidotic polyneuropathy. Ann. Intern. Med., 1994, 120(2), 133-134. (Pubitemid 24027554)
72. Monteiro, E.; Perdigoto, R.; Furtado, A.L. Liver transplantation for familial amyloid polyneuropathy. Hepatogastroenterology, 1998, 45(23), 1375-1380. (Pubitemid 28515122)
73. Stangou, A.J.; Heaton, N.D.; Hawkins, P.N. Transmission of systemic transthyretin amyloidosis by means of domino liver transplantation. N. Engl. J. Med., 2005, 352(22), 2356. (Pubitemid 40740565)
74. Goto, T.; Yamashita, T.; Ueda, M.; Ohshima, S.; Yoneyama, K.; Nakamura, M.; Nanjo, H.; Asonuma, K.; Inomata, Y.; Watanabe, S.; Uchino, M.; Tanaka, K.; Ando, Y. Iatrogenic amyloid neuropathy in a Japanese patient after sequential liver transplantation. Am. J. Transplant., 2006, 6(10), 2512-2515. (Pubitemid 44359444)
75. Takei, Y.; Gono, T.; Yazaki, M.; Ikeda, S.; Ikegami, T.; Hashikura, Y.; Miyagawa, S.; Hoshii, Y. Transthyretin-derived amyloid deposition on the gastric mucosa in domino recipients of familial amyloid polyneuropathy liver. Liver Transpl., 2007, 13(2), 215-218. (Pubitemid 46351646)
76. Klabunde, T.; Petrassi, H.M.; Oza, V.B.; Raman, P.; Kelly, J.W.; Sacchettini, J.C. Rational design of potent human transthyretin amyloid disease inhibitors. Nat. Struct. Biol., 2000, 7(4), 312-321. (Pubitemid 30194456)
77. Colon, W.; Kelley, J.W. Partial denaturation of transthyretin is sufficient for amyloid fibril formation in vitro. Biochemistry, 1992, 31(36), 8654-8660.
78. McCutchen, S.L.; Colon, W.; Kelley, J.W. Transthyretin mutation Leu-55-Pro alters tetrameric stability and increases amyloidogenicity. Biochemistry, 1993, 32(45), 12119-12127. (Pubitemid 23353652)
79. Monaco, H.L.; Rizzi, M.; Coda, A. Structure of a complex of two plasma proteins: Transthyretin and retinol-binding protein. Science, 1995, 268(5213), 1039-1041.
80. Quintas, A.; Saraiva, M.J.; Brito, R.M. The tetrameric protein transthyretin dissociates to a non-native monomer in solution. A novel model for amyloidogenesis. J. Biol. Chem., 1999, 274(46), 32943-32949. (Pubitemid 129535333)
81. Saraiva, M.J. Transthyretin amyloidosis: A tale of weak interactions. FEBS. Lett., 2001, 498(2-3), 201-203. (Pubitemid 32539203)
82. Alves, I.L.; Hays, M.T.; Saraiva, M.J. Comparative stability and clearance of [Met30] transthyretin and [Met119] transthyretin. Eur. J. Biochem., 1997, 249(3), 662-668. (Pubitemid 27479035)
83. Miroy, G.J.; Lai, Z.; Lashuel, H.A.; Peterson, S.A.; Strang, C.; Kelly, J.W. Inhibiting transthyretin amyloid fibril formation via protein stabilization. Proc. Natl. Acad. Sci. U. S. A., 1996, 93(26), 15051-15056. (Pubitemid 27009550)
84. Baures, P.W.; Oza, V.B.; Peterson, S.A.; Kelly, J.W. Synthesis and evaluation of inhibitors of transthyretin amyloid formation based on the nonsteroidal anti-inflammatory drug, flufenamic acid. Bioorg. Med. Chem., 1999, 7(7), 1339-1347. (Pubitemid 29292374)
85. Peterson, S.A.; Klabunde, T.; Lashuel, H.A.; Purkey, H.; Sacchettini, J.C.; Kelly, J.W. Inhibiting transthyretin conformational changes that lead to amyloid fibril formation. Proc. Natl. Acad. Sci. U. S. A., 1998, 95(22), 12956-12960. (Pubitemid 28509505)
86. Hammarström, P.; Wiseman, R.L.; Powers, E.T.; Kelly, J.W. Prevention of transthyretin amyloid disease by changing protein misfolding energetics. Science, 2003, 299(5607), 713-736.
87. Tojo, K.; Sekijima, Y.; Kelly, J.W.; Ikeda, S. Diflunisal stabilizes familial amyloid polyneuropathy-associated transthyretin variant tetramers in serum against dissociation required for amyloidogenesis. Neurosci. Res., 2006, 56(4), 441-449. (Pubitemid 44755449)
88. Sekijima, Y.; Dendle, M.A.; Kelly, J.W. Orally administered diflunisal stabilizes transthyretin against dissociation required for amyloidogenesis. Amyloid, 2006, 13(4), 236-249. (Pubitemid 44764463)
89. Labaudiniére, R.; Bulawa, C.; Wang, L.; Devit, M.; Packman, J.N. Fx-1006A, a novel, potent and selective TTR stabilizer for the treatment of TTR amyloidosis. Amyloid, 2006, 13(S1), 11.
90. Bulawa, C.; Wang, L.; Coelho, T.; Ranløv, P.; Svendsen, I.H.; Packman, J.; Labaudinière, R. Stabilization of amyloidogenic transthyretin variants in plasma by Fx-1006A. Amyloid, 2006, 13(S1), 21.
91. Devit, M.; Wang, L.; Weigel, C.; Wiseman, L.; Foss, T.; Kelly, J.; Labaudinière R. In vitro profile of Fx-1006A, a novel, potent and selective transthyretin (TTR) stabilizer. Amyloid, 2006, 13(S1): 26.
92. Kawaji, T.; Ando, Y.; Hara, R.; Tanihara, H. Novel therapy for transthyretinrelated ocular amyloidosis: A pilot study of retinal laser photocoagulation. Ophthalmology, 2010, 117(3), 552-555.
93. Gamper, H.B. Jr.; Cole-Strauss, A.; Metz, R.; Parekh, H.; Kumar, R.; Kmiec, E.B. A plausible mechanism for gene correction by chimeric oligonucleotides. Biochemistry, 2000, 39(19), 5808-5816. (Pubitemid 30307969)
94. Gamper, H.B.; Parekh, H.; Rice, M.C.; Bruner, M.; Youkey, H.; Kmiec, E.B. The DNA strand of chimeric RNA/DNA oligonucleotides can direct gene repair/conversion activity in mammalian and plant cell-free extracts. Nucleic. Acids. Res., 2000, 28(21), 4332-4339.
95. Nakamura, M.; Ando, Y.; Nagahara, S.; Sano, A.; Ochiya, T.; Maeda, S.; Kawaji, T.; Ogawa, M.; Hirata, A.; Terazaki, H.; Haraoka, K.; Tanihara, H.; Ueda, M.; Uchino, M.; Yamamura, K. Targeted conversion of the transthyretin gene in vitro and in vivo. Gene Ther., 2004, 11(10), 838-846. (Pubitemid 38714587)
96. Fire, A.; Xu, S.; Montgomery, M.K.; Kostas, S.A.; Driver, S.E.; Mello, C.C. Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans. Nature, 1998, 391(6669), 806-811. (Pubitemid 28099681)
97. Elbashir, S.M.; Harborth, J.; Lendeckel, W.; Yalcin, A.; Weber, K.; Tuschl, T. Duplexes of 21-nucleotide RNAs mediate RNA interference in cultured mammalian cells. Nature, 2001, 411(6836), 494-498. (Pubitemid 32494397)
98. Benson, M.D.; Kluve-Beckerman, B.; Zeldenrust, S.R. Siesky, A.M.; Bodenmiller, D.M.; Showalter, A.D.; Sloop, K.W. Targeted suppression of an amyloidogenic transthyretin with antisense oligonucleotides. Muscle Nerve, 2006, 33(5), 609-618.
99. Kurosawa, T.; Igarashi, S.; Nishizawa, M.; Onodera, O. Selective silencing of a mutant transthyretin allele by small interfering RNAs. Biochem. Biophys. Res. Commun., 2005, 337(3), 1012-1018. (Pubitemid 41447013)
100. Gustavsson, A.; Engström, U.; Westermark, P. Mechanisms of transthyretin amyloidogenesis. Antigenic mapping of transthyretin purified from plasma and amyloid fibrils and within in situ tissue localizations. Am. J. Pathol., 1994, 144(6), 1301-1311. (Pubitemid 24172092)
101. Blake, C.C.F.; Geisow, M.J.; Oatley, S.J.; Rérat, B.; Rérat, C. Structure of prealbumin: Secondary, tertiary and quaternary interactions determined by Fourier refinement at 1.8 A. J. Mol. Biol., 1978, 121(3), 339-356. (Pubitemid 8361803)
102. Bergstrom, J.; Engstrom, U.; Yamashita, T.; Ando, Y.; Westermark, P. Surface exposedepitopes and structural heterogeneity of in vivo formed transthyretin amyloid fibrils. Biochem. Biopys. Res. Commun., 2006, 348(2), 532-539. (Pubitemid 44188600)
103. Goldsteins, G.; Persson, H.; Andersson, K.; Olofsson, A.; Dacklin, I.; Edvinsson, A.; Saraiva, M.J.; Lundgren, E. Exposure of cryptic epitopes on transthyretin only in amyloid and in amyloidogenic mutants. Proc. Natl. Acad. Sci. U.S.A., 1999, 96(6), 3108-3113. (Pubitemid 29148852)
104. Palha, J.A.; Moreira, P.; Olofsson, A.; Lundgren, E.; Saraiva, M.J. Antibody recognition of amyloidogenic transthyretin variants in serum of patients with familial amyloidotic polyneuropathy. J. Mol. Med., 2001, 78(12), 703-707.
105. Redondo, C.; Damas, A.M.; Olofsson, A.; Lundgren, E.; Saraiva, M.J. Search for intermediate structures in transthyretin fibrillogenesis: Soluble tetrameric Tyr78Phe TTR expresses a specific epitope present only in amyloid fibrils. J. Mol. Biol., 2000, 304(3), 461-470.
106. Terazaki, H.; Ando, Y.; Fernandes, R.; Yamamura, K.; Maeda, S.; Saraiva, M.J. Immunization in familial amyloidotic polyneuropathy: Counteracting deposition by immunization with a Y78F TTR mutant. Lab. Invest., 2006, 86(1), 23-31. (Pubitemid 43250965)
107. Merlini, G.; Ascari, E.; Amboldi, N.; Bellotti, V.; Arbustini, E.; Perfetti, V.; Ferrari, M.; Zorzoli, I.; Marinone, M.G.; Garini, P.; Diegolis, M.; Trizio, D.; Ballinari, D. Interaction of the anthracycline 4'-iodo-4'-deoxydoxorubicin with amyloid fibrils: Inhibition of amyloidogenesis. Proc. Natl. Acad. Sci. U.S.A., 1995, 92(7), 2959-2963.
108. Sebastiao, M.P.; Merlini, G.; Saraiva, M.J.; Damas, A.M. The molecular interaction of 4'-iodo-4'-deoxydoxorubicin with Leu-55Pro transthyretin 'amyloid-like' oligomer leading to disaggregation. Biochem. J., 2000, 351(Pt 1), 273-279.
109. Bendeck, M.P.; Conte, M.; Zhang, M.; Nili, N.; Strauss, B.H.; Farwell, S.M. Doxycycline modulates smooth muscle cell growth, migration, and matrix remodeling after arterial injury. Am. J. Pathol., 2002, 160(3), 1089-1095. (Pubitemid 34224595)
110. Forloni, G.; Colombo, L.; Girola, L.; Tagliavini, F.; Salmona, M. Antiamyloidogenic activity of tetracyclines: Studies in vitro. FEBS. Lett., 2001, 487(3), 404-407. (Pubitemid 32121764)
111. Cardoso, I.; Merlini, G.; Saraiva, M.J. 4'-iodo-4'-Deoxydoxorubicin and tetracyclines disrupt transthyretin amyloid fibrils in vitro producing noncytotoxic species. Screening for TTR fibril disrupters. FASEB. J., 2003, 17(8), 803-809. (Pubitemid 36538654)
112. Cardoso I and Saraiva MJ (2006) Doxycycline disrupts transthyretin amyloid: Evidence from studies in a FAP transgenic mice model. FASEB J 20: 234-239 (Pubitemid 44933170)
113. Macedo, B.; Batista, A.R.; Ferreira, N.; Almeida, M.R.; Saraiva, M.J. Antiapoptotic treatment reduces transthyretin deposition in a transgenic mouse model of Familial Amyloidotic Polyneuropathy. Biochim. Biophys. Acta., 2008, 1782(9), 517-522.
114. Skinner, M.; Stone, P.; Shirahama, T.; Connors, L.H.; Calore, J.; Cohen, A.S. The association of an elastase with amyloid fibrils. Proc. Soc. Exp. Biol. Med., 1986, 181(2), 211-214. (Pubitemid 16166888)
115. Stone, P.; Camistol, J.; Abraham, C.R.; Rodgers, O.; Shirahama, T.; Skinner, M. Neutrophil proteases associated with amyloid fibrils. Biochem. Biophys. Res. Commun., 1993, 197(1), 130-136. (Pubitemid 23358887)
116. Benedetti, A.; Comporti, M.; Esterbauer, H. Identification of 4-hydroxynonenal as a cytotoxic product originating from the peroxidation of liver microsomal lipids. Biochim. Biophys. Acta., 1980, 620(2), 281-296. (Pubitemid 11216247)
117. Siems, W.; Kowalewski, J.; Werner, A.; Schimke, I.; Gerber, G. Radical formation in the rat small intestine during and following ischemia. Free. Radic. Res. Commun., 1989, 7(3-6), 347-353. (Pubitemid 19281985)
118. Ando, Y.; Nyhlin, N.; Suhr, O.; Holmgren, G.; Uchida, K.; Sahly, M.; Yamashita, T.; Terasaki, H.; Nakamura, M.; Uchino, M.; Ando, M. Oxidative stress is found in amyloid deposits in systemic amyloidosis. Biochem. Biophys. Res. Commun., 1997, 232(2), 497-502. (Pubitemid 27216247)
119. Ando, Y.; Suhr, O.; El-Salhy, M. Oxidative stress and amyloidosis. Histol. Histopathol., 1998, 13(3), 845-850. (Pubitemid 28329187)
120. Suhr, O.B.; Lang, K.; Wikstrom, L.; Anan, I.; Ando, Y.; El-Salhy, M.; Holmgren, G.; Tashima, K. Scavenger treatment of free radical injury in familial amyloidotic polyneuropathy: A study on Swedish transplanted and non-transplanted patients. Scand. J. Clin. Lab. Invest., 2001, 61(1), 11-18. (Pubitemid 32240868)