Hmdb loader
Identification
HMDB Protein ID HMDBP01831
Secondary Accession Numbers
  • 7194
Name Transthyretin
Synonyms
  1. ATTR
  2. Prealbumin
  3. TBPA
Gene Name TTR
Protein Type Enzyme
Biological Properties
General Function Involved in hormone activity
Specific Function Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain
Pathways Not Available
Reactions Not Available
GO Classification Not Available
Cellular Location
  1. Cytoplasm
  2. Secreted
Gene Properties
Chromosome Location Chromosome:1
Locus 18q12.1
SNPs TTR
Gene Sequence
>444 bp
ATGGCTTCTCATCGTCTGCTCCTCCTCTGCCTTGCTGGACTGGTATTTGTGTCTGAGGCT
GGCCCTACGGGCACCGGTGAATCCAAGTGTCCTCTGATGGTCAAAGTTCTAGATGCTGTC
CGAGGCAGTCCTGCCATCAATGTGGCCGTGCATGTGTTCAGAAAGGCTGCTGATGACACC
TGGGAGCCATTTGCCTCTGGGAAAACCAGTGAGTCTGGAGAGCTGCATGGGCTCACAACT
GAGGAGGAATTTGTAGAAGGGATATACAAAGTGGAAATAGACACCAAATCTTACTGGAAG
GCACTTGGCATCTCCCCATTCCATGAGCATGCAGAGGTGGTATTCACAGCCAACGACTCC
GGCCCCCGCCGCTACACCATTGCCGCCCTGCTGAGCCCCTACTCCTATTCCACCACGGCT
GTCGTCACCAATCCCAAGGAATGA
Protein Properties
Number of Residues 147
Molecular Weight 15886.9
Theoretical pI 5.58
Pfam Domain Function
Signals
  • 1-20
Transmembrane Regions
  • None
Protein Sequence
>Transthyretin
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDT
WEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDS
GPRRYTIAALLSPYSYSTTAVVTNPKE
GenBank ID Protein 189582
UniProtKB/Swiss-Prot ID P02766
UniProtKB/Swiss-Prot Entry Name TTHY_HUMAN
PDB IDs
GenBank Gene ID K02091
GeneCard ID TTR
GenAtlas ID TTR
HGNC ID HGNC:12405
References
General References
  1. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed:14702039 ]
  2. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  3. Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. Nat Biotechnol. 2003 May;21(5):566-9. Epub 2003 Mar 31. [PubMed:12665801 ]
  4. Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. J Proteome Res. 2005 Nov-Dec;4(6):2070-80. [PubMed:16335952 ]
  5. Bunkenborg J, Pilch BJ, Podtelejnikov AV, Wisniewski JR: Screening for N-glycosylated proteins by liquid chromatography mass spectrometry. Proteomics. 2004 Feb;4(2):454-65. [PubMed:14760718 ]
  6. Mita S, Maeda S, Shimada K, Araki S: Cloning and sequence analysis of cDNA for human prealbumin. Biochem Biophys Res Commun. 1984 Oct 30;124(2):558-64. [PubMed:6093805 ]
  7. Wallace MR, Naylor SL, Kluve-Beckerman B, Long GL, McDonald L, Shows TB, Benson MD: Localization of the human prealbumin gene to chromosome 18. Biochem Biophys Res Commun. 1985 Jun 28;129(3):753-8. [PubMed:2990465 ]
  8. Sasaki H, Yoshioka N, Takagi Y, Sakaki Y: Structure of the chromosomal gene for human serum prealbumin. Gene. 1985;37(1-3):191-7. [PubMed:4054629 ]
  9. Tsuzuki T, Mita S, Maeda S, Araki S, Shimada K: Structure of the human prealbumin gene. J Biol Chem. 1985 Oct 5;260(22):12224-7. [PubMed:2995367 ]
  10. Mita S, Maeda S, Shimada K, Araki S: Analyses of prealbumin mRNAs in individuals with familial amyloidotic polyneuropathy. J Biochem. 1986 Nov;100(5):1215-22. [PubMed:3818577 ]
  11. Maeda S, Mita S, Araki S, Shimada K: Structure and expression of the mutant prealbumin gene associated with familial amyloidotic polyneuropathy. Mol Biol Med. 1986 Aug;3(4):329-38. [PubMed:3022108 ]
  12. Christmanson L, Betsholtz C, Gustavsson A, Johansson B, Sletten K, Westermark P: The transthyretin cDNA sequence is normal in transthyretin-derived senile systemic amyloidosis. FEBS Lett. 1991 Apr 9;281(1-2):177-80. [PubMed:2015890 ]
  13. Gu JR, Jiang HQ, He LP, Li DZ, Zhou XM, Dai WL, Qian LF, Chen YQ, Schweinfest C, Papas T: Transthyretin (prealbumin) gene in human primary hepatic cancer. Sci China B. 1991 Nov;34(11):1312-8. [PubMed:1666289 ]
  14. Getz RK, Kennedy BG, Mangini NJ: Transthyretin localization in cultured and native human retinal pigment epithelium. Exp Eye Res. 1999 May;68(5):629-36. [PubMed:10328977 ]
  15. Kanda Y, Goodman DS, Canfield RE, Morgan FJ: The amino acid sequence of human plasma prealbumin. J Biol Chem. 1974 Nov 10;249(21):6796-805. [PubMed:4607556 ]
  16. Pras M, Prelli F, Franklin EC, Frangione B: Primary structure of an amyloid prealbumin variant in familial polyneuropathy of Jewish origin. Proc Natl Acad Sci U S A. 1983 Jan;80(2):539-42. [PubMed:6300852 ]
  17. Tawara S, Nakazato M, Kangawa K, Matsuo H, Araki S: Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type). Biochem Biophys Res Commun. 1983 Nov 15;116(3):880-8. [PubMed:6651852 ]
  18. Dwulet FE, Benson MD: Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuropathy of Swedish origin. Proc Natl Acad Sci U S A. 1984 Feb;81(3):694-8. [PubMed:6583672 ]
  19. Cornwell GG 3rd, Sletten K, Johansson B, Westermark P: Evidence that the amyloid fibril protein in senile systemic amyloidosis is derived from normal prealbumin. Biochem Biophys Res Commun. 1988 Jul 29;154(2):648-53. [PubMed:3135807 ]
  20. Kametani F, Ikeda S, Yanagisawa N, Ishi T, Hanyu N: Characterization of a transthyretin-related amyloid fibril protein from cerebral amyloid angiopathy in type I familial amyloid polyneuropathy. J Neurol Sci. 1992 Apr;108(2):178-83. [PubMed:1517749 ]
  21. Harding J, Skare J, Skinner M: A second transthyretin mutation at position 33 (Leu/Phe) associated with familial amyloidotic polyneuropathy. Biochim Biophys Acta. 1991 Oct 21;1097(3):183-6. [PubMed:1932142 ]
  22. Skare J, Jones LA, Myles N, Kane K, Milunsky A, Cohen A, Skinner M: Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis. Clin Genet. 1994 Jun;45(6):281-4. [PubMed:7923855 ]
  23. Soprano DR, Herbert J, Soprano KJ, Schon EA, Goodman DS: Demonstration of transthyretin mRNA in the brain and other extrahepatic tissues in the rat. J Biol Chem. 1985 Sep 25;260(21):11793-8. [PubMed:4044580 ]
  24. Moses AC, Rosen HN, Moller DE, Tsuzaki S, Haddow JE, Lawlor J, Liepnieks JJ, Nichols WC, Benson MD: A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia. J Clin Invest. 1990 Dec;86(6):2025-33. [PubMed:1979335 ]
  25. Gustavsson A, Jahr H, Tobiassen R, Jacobson DR, Sletten K, Westermark P: Amyloid fibril composition and transthyretin gene structure in senile systemic amyloidosis. Lab Invest. 1995 Nov;73(5):703-8. [PubMed:7474944 ]
  26. Blake CC, Oatley SJ: Protein-DNA and protein-hormone interactions in prealbumin: a model of the thyroid hormone nuclear receptor? Nature. 1977 Jul 14;268(5616):115-20. [PubMed:201845 ]
  27. Herbert J, Wilcox JN, Pham KT, Fremeau RT Jr, Zeviani M, Dwork A, Soprano DR, Makover A, Goodman DS, Zimmerman EA, et al.: Transthyretin: a choroid plexus-specific transport protein in human brain. The 1986 S. Weir Mitchell award. Neurology. 1986 Jul;36(7):900-11. [PubMed:3714052 ]
  28. Ruggeberg S, Horn P, Li X, Vajkoczy P, Franz T: Detection of a gamma-carboxy-glutamate as novel post-translational modification of human transthyretin. Protein Pept Lett. 2008;15(1):43-6. [PubMed:18221012 ]
  29. Blake CC, Geisow MJ, Swan ID, Rerat C, Rerat B: Strjcture of human plasma prealbumin at 2-5 A resolution. A preliminary report on the polypeptide chain conformation, quaternary structure and thyroxine binding. J Mol Biol. 1974 Sep 5;88(1):1-12. [PubMed:4216640 ]
  30. Blake CC, Geisow MJ, Oatley SJ, Rerat B, Rerat C: Structure of prealbumin: secondary, tertiary and quaternary interactions determined by Fourier refinement at 1.8 A. J Mol Biol. 1978 May 25;121(3):339-56. [PubMed:671542 ]
  31. Terry CJ, Damas AM, Oliveira P, Saraiva MJ, Alves IL, Costa PP, Matias PM, Sakaki Y, Blake CC: Structure of Met30 variant of transthyretin and its amyloidogenic implications. EMBO J. 1993 Feb;12(2):735-41. [PubMed:8382610 ]
  32. Hamilton JA, Steinrauf LK, Braden BC, Liepnieks J, Benson MD, Holmgren G, Sandgren O, Steen L: The x-ray crystal structure refinements of normal human transthyretin and the amyloidogenic Val-30-->Met variant to 1.7-A resolution. J Biol Chem. 1993 Feb 5;268(4):2416-24. [PubMed:8428915 ]
  33. Monaco HL, Rizzi M, Coda A: Structure of a complex of two plasma proteins: transthyretin and retinol-binding protein. Science. 1995 May 19;268(5213):1039-41. [PubMed:7754382 ]
  34. Schormann N, Murrell JR, Benson MD: Tertiary structures of amyloidogenic and non-amyloidogenic transthyretin variants: new model for amyloid fibril formation. Amyloid. 1998 Sep;5(3):175-87. [PubMed:9818054 ]
  35. Sebastiao MP, Saraiva MJ, Damas AM: The crystal structure of amyloidogenic Leu55 --> Pro transthyretin variant reveals a possible pathway for transthyretin polymerization into amyloid fibrils. J Biol Chem. 1998 Sep 18;273(38):24715-22. [PubMed:9733771 ]
  36. Peterson SA, Klabunde T, Lashuel HA, Purkey H, Sacchettini JC, Kelly JW: Inhibiting transthyretin conformational changes that lead to amyloid fibril formation. Proc Natl Acad Sci U S A. 1998 Oct 27;95(22):12956-60. [PubMed:9789022 ]
  37. Naylor HM, Newcomer ME: The structure of human retinol-binding protein (RBP) with its carrier protein transthyretin reveals an interaction with the carboxy terminus of RBP. Biochemistry. 1999 Mar 2;38(9):2647-53. [PubMed:10052934 ]
  38. Hornberg A, Eneqvist T, Olofsson A, Lundgren E, Sauer-Eriksson AE: A comparative analysis of 23 structures of the amyloidogenic protein transthyretin. J Mol Biol. 2000 Sep 22;302(3):649-69. [PubMed:10986125 ]
  39. Klabunde T, Petrassi HM, Oza VB, Raman P, Kelly JW, Sacchettini JC: Rational design of potent human transthyretin amyloid disease inhibitors. Nat Struct Biol. 2000 Apr;7(4):312-21. [PubMed:10742177 ]
  40. Jiang X, Smith CS, Petrassi HM, Hammarstrom P, White JT, Sacchettini JC, Kelly JW: An engineered transthyretin monomer that is nonamyloidogenic, unless it is partially denatured. Biochemistry. 2001 Sep 25;40(38):11442-52. [PubMed:11560492 ]
  41. Sebastiao MP, Lamzin V, Saraiva MJ, Damas AM: Transthyretin stability as a key factor in amyloidogenesis: X-ray analysis at atomic resolution. J Mol Biol. 2001 Mar 2;306(4):733-44. [PubMed:11243784 ]
  42. Eneqvist T, Olofsson A, Ando Y, Miyakawa T, Katsuragi S, Jass J, Lundgren E, Sauer-Eriksson AE: Disulfide-bond formation in the transthyretin mutant Y114C prevents amyloid fibril formation in vivo and in vitro. Biochemistry. 2002 Nov 5;41(44):13143-51. [PubMed:12403615 ]
  43. Razavi H, Palaninathan SK, Powers ET, Wiseman RL, Purkey HE, Mohamedmohaideen NN, Deechongkit S, Chiang KP, Dendle MT, Sacchettini JC, Kelly JW: Benzoxazoles as transthyretin amyloid fibril inhibitors: synthesis, evaluation, and mechanism of action. Angew Chem Int Ed Engl. 2003 Jun 23;42(24):2758-61. [PubMed:12820260 ]
  44. Green NS, Palaninathan SK, Sacchettini JC, Kelly JW: Synthesis and characterization of potent bivalent amyloidosis inhibitors that bind prior to transthyretin tetramerization. J Am Chem Soc. 2003 Nov 5;125(44):13404-14. [PubMed:14583036 ]
  45. Adamski-Werner SL, Palaninathan SK, Sacchettini JC, Kelly JW: Diflunisal analogues stabilize the native state of transthyretin. Potent inhibition of amyloidogenesis. J Med Chem. 2004 Jan 15;47(2):355-74. [PubMed:14711308 ]
  46. Neto-Silva RM, Macedo-Ribeiro S, Pereira PJ, Coll M, Saraiva MJ, Damas AM: X-ray crystallographic studies of two transthyretin variants: further insights into amyloidogenesis. Acta Crystallogr D Biol Crystallogr. 2005 Mar;61(Pt 3):333-9. Epub 2005 Feb 24. [PubMed:15735344 ]
  47. Hornberg A, Hultdin UW, Olofsson A, Sauer-Eriksson AE: The effect of iodide and chloride on transthyretin structure and stability. Biochemistry. 2005 Jul 5;44(26):9290-9. [PubMed:15981995 ]
  48. Karlsson A, Olofsson A, Eneqvist T, Sauer-Eriksson AE: Cys114-linked dimers of transthyretin are compatible with amyloid formation. Biochemistry. 2005 Oct 4;44(39):13063-70. [PubMed:16185074 ]
  49. Wiseman RL, Johnson SM, Kelker MS, Foss T, Wilson IA, Kelly JW: Kinetic stabilization of an oligomeric protein by a single ligand binding event. J Am Chem Soc. 2005 Apr 20;127(15):5540-51. [PubMed:15826192 ]
  50. Foss TR, Kelker MS, Wiseman RL, Wilson IA, Kelly JW: Kinetic stabilization of the native state by protein engineering: implications for inhibition of transthyretin amyloidogenesis. J Mol Biol. 2005 Apr 8;347(4):841-54. [PubMed:15769474 ]
  51. Morais-de-Sa E, Neto-Silva RM, Pereira PJ, Saraiva MJ, Damas AM: The binding of 2,4-dinitrophenol to wild-type and amyloidogenic transthyretin. Acta Crystallogr D Biol Crystallogr. 2006 May;62(Pt 5):512-9. Epub 2006 Apr 19. [PubMed:16627944 ]
  52. Gales L, Saraiva MJ, Damas AM: Structural basis for the protective role of sulfite against transthyretin amyloid formation. Biochim Biophys Acta. 2007 Jan;1774(1):59-64. Epub 2006 Nov 6. [PubMed:17175208 ]
  53. Pasquato N, Berni R, Folli C, Alfieri B, Cendron L, Zanotti G: Acidic pH-induced conformational changes in amyloidogenic mutant transthyretin. J Mol Biol. 2007 Feb 23;366(3):711-9. Epub 2006 Dec 1. [PubMed:17196219 ]
  54. Gales L, Almeida MR, Arsequell G, Valencia G, Saraiva MJ, Damas AM: Iodination of salicylic acid improves its binding to transthyretin. Biochim Biophys Acta. 2008 Mar;1784(3):512-7. Epub 2007 Dec 3. [PubMed:18155178 ]
  55. Zanotti G, Folli C, Cendron L, Alfieri B, Nishida SK, Gliubich F, Pasquato N, Negro A, Berni R: Structural and mutational analyses of protein-protein interactions between transthyretin and retinol-binding protein. FEBS J. 2008 Dec;275(23):5841-54. doi: 10.1111/j.1742-4658.2008.06705.x. [PubMed:19021760 ]
  56. Johnson SM, Connelly S, Wilson IA, Kelly JW: Biochemical and structural evaluation of highly selective 2-arylbenzoxazole-based transthyretin amyloidogenesis inhibitors. J Med Chem. 2008 Jan 24;51(2):260-70. Epub 2007 Dec 21. [PubMed:18095641 ]
  57. Johnson SM, Connelly S, Wilson IA, Kelly JW: Toward optimization of the linker substructure common to transthyretin amyloidogenesis inhibitors using biochemical and structural studies. J Med Chem. 2008 Oct 23;51(20):6348-58. doi: 10.1021/jm800435s. Epub 2008 Sep 24. [PubMed:18811132 ]
  58. Palaninathan SK, Mohamedmohaideen NN, Snee WC, Kelly JW, Sacchettini JC: Structural insight into pH-induced conformational changes within the native human transthyretin tetramer. J Mol Biol. 2008 Oct 24;382(5):1157-67. doi: 10.1016/j.jmb.2008.07.029. Epub 2008 Jul 16. [PubMed:18662699 ]
  59. Saraiva MJ: Transthyretin mutations in health and disease. Hum Mutat. 1995;5(3):191-6. [PubMed:7599630 ]
  60. Nakazato M, Kangawa K, Minamino N, Tawara S, Matsuo H, Araki S: Revised analysis of amino acid replacement in a prealbumin variant (SKO-III) associated with familial amyloidotic polyneuropathy of Jewish origin. Biochem Biophys Res Commun. 1984 Sep 28;123(3):921-8. [PubMed:6487335 ]
  61. Wallace MR, Dwulet FE, Conneally PM, Benson MD: Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis. J Clin Invest. 1986 Jul;78(1):6-12. [PubMed:3722385 ]
  62. Strahler JR, Rosenblum BB, Hanash SM: Identification and characterization of a human transthyretin variant. Biochem Biophys Res Commun. 1987 Oct 14;148(1):471-7. [PubMed:3675594 ]
  63. Wallace MR, Dwulet FE, Williams EC, Conneally PM, Benson MD: Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis. J Clin Invest. 1988 Jan;81(1):189-93. [PubMed:2891727 ]
  64. Ueno S, Uemichi T, Yorifuji S, Tarui S: A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases. Biochem Biophys Res Commun. 1990 May 31;169(1):143-7. [PubMed:2161654 ]
  65. Ueno S, Uemichi T, Takahashi N, Soga F, Yorifuji S, Tarui S: Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg). Biochem Biophys Res Commun. 1990 Jun 29;169(3):1117-21. [PubMed:2363717 ]
  66. Harrison HH, Gordon ED, Nichols WC, Benson MD: Biochemical and clinical characterization of prealbuminCHICAGO: an apparently benign variant of serum prealbumin (transthyretin) discovered with high-resolution two-dimensional electrophoresis. Am J Med Genet. 1991 Jun 15;39(4):442-52. [PubMed:1877623 ]
  67. Saeki Y, Ueno S, Yorifuji S, Sugiyama Y, Ide Y, Matsuzawa Y: New mutant gene (transthyretin Arg 58) in cases with hereditary polyneuropathy detected by non-isotope method of single-strand conformation polymorphism analysis. Biochem Biophys Res Commun. 1991 Oct 15;180(1):380-5. [PubMed:1656975 ]
  68. Skare JC, Milunsky JM, Milunsky A, Skare IB, Cohen AS, Skinner M: A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90. Clin Genet. 1991 Jan;39(1):6-12. [PubMed:1997217 ]
  69. Ii S, Minnerath S, Ii K, Dyck PJ, Sommer SS: Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations. Neurology. 1991 Jun;41(6):893-8. [PubMed:2046936 ]
  70. Saraiva MJ, Almeida Mdo R, Sherman W, Gawinowicz M, Costa P, Costa PP, Goodman DS: A new transthyretin mutation associated with amyloid cardiomyopathy. Am J Hum Genet. 1992 May;50(5):1027-30. [PubMed:1570831 ]
  71. Murakami T, Maeda S, Yi S, Ikegawa S, Kawashima E, Onodera S, Shimada K, Araki S: A novel transthyretin mutation associated with familial amyloidotic polyneuropathy. Biochem Biophys Res Commun. 1992 Jan 31;182(2):520-6. [PubMed:1734866 ]
  72. Murakami T, Atsumi T, Maeda S, Tanase S, Ishikawa K, Mita S, Kumamoto T, Araki S, Ando M: A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy. Biochem Biophys Res Commun. 1992 Aug 31;187(1):397-403. [PubMed:1520326 ]
  73. Nishi H, Kimura A, Harada H, Hayashi Y, Nakamura M, Sasazuki T: Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis. Biochem Biophys Res Commun. 1992 Aug 31;187(1):460-6. [PubMed:1520336 ]
  74. Jones LA, Skare JC, Cohen AS, Harding JA, Milunsky A, Skinner M: Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent. Clin Genet. 1992 Feb;41(2):70-3. [PubMed:1544214 ]
  75. Jacobson DR, McFarlin DE, Kane I, Buxbaum JN: Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement. Hum Genet. 1992 May;89(3):353-6. [PubMed:1351039 ]
  76. Almeida MR, Ferlini A, Forabosco A, Gawinowicz M, Costa PP, Salvi F, Plasmati R, Tassinari CA, Altland K, Saraiva MJ: Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis. Hum Mutat. 1992;1(3):211-5. [PubMed:1301926 ]
  77. Uemichi T, Murrell JR, Zeldenrust S, Benson MD: A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy. J Med Genet. 1992 Dec;29(12):888-91. [PubMed:1362222 ]
  78. Izumoto S, Younger D, Hays AP, Martone RL, Smith RT, Herbert J: Familial amyloidotic polyneuropathy presenting with carpal tunnel syndrome and a new transthyretin mutation, asparagine 70. Neurology. 1992 Nov;42(11):2094-102. [PubMed:1436517 ]
  79. Shiomi K, Nakazato M, Matsukura S, Ohnishi A, Hatanaka H, Tsuji S, Murai Y, Kojima M, Kangawa K, Matsuo H: A basic transthyretin variant (Glu61-->Lys) causes familial amyloidotic polyneuropathy: protein and DNA sequencing and PCR-induced mutation restriction analysis. Biochem Biophys Res Commun. 1993 Aug 16;194(3):1090-6. [PubMed:8352764 ]
  80. Hesse A, Altland K, Linke RP, Almeida MR, Saraiva MJ, Steinmetz A, Maisch B: Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant. Br Heart J. 1993 Aug;70(2):111-5. [PubMed:8038017 ]
  81. Almeida Mdo R, Lopez-Andreu F, Munar-Ques M, Costa PP, Saraiva MJ: Transthyretin ALA 71: a new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy. Hum Mutat. 1993;2(5):420-1. [PubMed:8257997 ]
  82. Benson MD 2nd, Turpin JC, Lucotte G, Zeldenrust S, LeChevalier B, Benson MD: A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family. J Med Genet. 1993 Feb;30(2):120-2. [PubMed:8095302 ]
  83. Jacobson DR, Buxbaum JN: A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient "SKO" with familial amyloidotic polyneuropathy. Hum Mutat. 1994;3(3):254-60. [PubMed:8019560 ]
  84. Jacobson DR, Gertz MA, Buxbaum JN: Transthyretin VAL107, a new variant associated with familial cardiac and neuropathic amyloidosis. Hum Mutat. 1994;3(4):399-401. [PubMed:8081397 ]
  85. Berni R, Malpeli G, Folli C, Murrell JR, Liepnieks JJ, Benson MD: The Ile-84-->Ser amino acid substitution in transthyretin interferes with the interaction with plasma retinol-binding protein. J Biol Chem. 1994 Sep 23;269(38):23395-8. [PubMed:8089102 ]
  86. Uemichi T, Gertz MA, Benson MD: Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107). J Med Genet. 1994 May;31(5):416-7. [PubMed:7914929 ]
  87. Yasuda T, Sobue G, Doyu M, Nakazato M, Shiomi K, Yanagi T, Mitsuma T: Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: a Japanese kindred with novel mutant transthyretin (Ala97 to Gly). J Neurol Sci. 1994 Jan;121(1):97-102. [PubMed:8133316 ]
  88. Yamamoto K, Hsu SP, Yoshida K, Ikeda S, Nakazato M, Shiomi K, Cheng SY, Furihata K, Ueno I, Yanagisawa N: Familial amyloid polyneuropathy in Taiwan: identification of transthyretin variant (Leu55-->Pro). Muscle Nerve. 1994 Jun;17(6):637-41. [PubMed:7910950 ]
  89. Murakami T, Tachibana S, Endo Y, Kawai R, Hara M, Tanase S, Ando M: Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant. Neurology. 1994 Feb;44(2):315-8. [PubMed:8309582 ]
  90. Reilly MM, Adams D, Booth DR, Davis MB, Said G, Laubriat-Bianchin M, Pepys MB, Thomas PK, Harding AE: Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy. Brain. 1995 Aug;118 ( Pt 4):849-56. [PubMed:7655883 ]
  91. Booth DR, Tan SY, Hawkins PN, Pepys MB, Frustaci A: A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family. Circulation. 1995 Feb 15;91(4):962-7. [PubMed:7850982 ]
  92. Vidal R, Garzuly F, Budka H, Lalowski M, Linke RP, Brittig F, Frangione B, Wisniewski T: Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD 18G) Am J Pathol. 1996 Feb;148(2):361-6. [PubMed:8579098 ]
  93. Petersen RB, Goren H, Cohen M, Richardson SL, Tresser N, Lynn A, Gali M, Estes M, Gambetti P: Transthyretin amyloidosis: a new mutation associated with dementia. Ann Neurol. 1997 Mar;41(3):307-13. [PubMed:9066351 ]
  94. Jacobson DR, Pan T, Kyle RA, Buxbaum JN: Transthyretin ILE20, a new variant associated with late-onset cardiac amyloidosis. Hum Mutat. 1997;9(1):83-5. [PubMed:8990019 ]
  95. Patrosso MC, Salvi F, De Grandis D, Vezzoni P, Jacobson DR, Ferlini A: Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis. Am J Med Genet. 1998 May 1;77(2):135-8. [PubMed:9605286 ]
  96. Dupuy O, Bletry O, Blanc AS, Droz D, Viemont M, Delpech M, Grateau G: A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis. Amyloid. 1998 Dec;5(4):285-7. [PubMed:10036587 ]
  97. Misrahi AM, Plante V, Lalu T, Serre L, Adams D, Lacroix DC, Said G: New transthyretin variants SER 91 and SER 116 associated with familial amyloidotic polyneuropathy. Mutations in brief no. 151. Online. Hum Mutat. 1998;12(1):71. [PubMed:10627135 ]
  98. Booth DR, Gillmore JD, Persey MR, Booth SE, Cafferty KD, Tennent GA, Madhoo S, Cochrane SW, Whitehead TC, Pasvol G, Hawkins PN: Transthyretin Ile73Val is associated with familial amyloidotic polyneuropathy in a Bangladeshi family. Mutations in brief no. 158. Online. Hum Mutat. 1998;12(2):135. [PubMed:10694917 ]
  99. Kishikawa M, Nakanishi T, Miyazaki A, Hatanaka M, Shimizu A, Tamoto S, Ohsawa N, Hayashi H, Kanai M: A new nonamyloid transthyretin variant, G101S, detected by electrospray ionization/mass spectrometry. Mutations in brief no. 201. Online. Hum Mutat. 1998;12(5):363. [PubMed:10671063 ]
  100. Klein CJ, Nakumura M, Jacobson DR, Lacy MQ, Benson MD, Petersen RC: Transthyretin amyloidosis (serine 44) with headache, hearing loss, and peripheral neuropathy. Neurology. 1998 Nov;51(5):1462-4. [PubMed:9818883 ]
  101. Theberge R, Connors L, Skare J, Skinner M, Falk RH, Costello CE: A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient. Amyloid. 1999 Mar;6(1):54-8. [PubMed:10211412 ]
  102. Connors LH, Theberge R, Skare J, Costello CE, Falk RH, Skinner M: A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient. Amyloid. 1999 Jun;6(2):114-8. [PubMed:10439117 ]
  103. Tachibana N, Tokuda T, Yoshida K, Taketomi T, Nakazato M, Li YF, Masuda Y, Ikeda S: Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy. Amyloid. 1999 Dec;6(4):282-8. [PubMed:10611950 ]
  104. 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 MJ: 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 Oct 22;264(2):365-70. [PubMed:10529370 ]
  105. Brett M, Persey MR, Reilly MM, Revesz T, Booth DR, Booth SE, Hawkins PN, Pepys MB, Morgan-Hughes JA: Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. Brain. 1999 Feb;122 ( Pt 2):183-90. [PubMed:10071047 ]
  106. Nakamura M, Yamashita T, Ando Y, Hamidi Asl K, Tashima K, Ohlsson P, Kususe Y, Benson MD: Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotopic RNase cleavage assay. Hum Hered. 1999 Jul;49(4):186-9. [PubMed:10436378 ]
  107. Nakamura M, Hamidi Asl K, Benson MD: A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy. Amyloid. 2000 Mar;7(1):46-50. [PubMed:10842705 ]
  108. Janunger T, Anan I, Holmgren G, Lovheim O, Ohlsson PI, Suhr OB, Tashima K: Heart failure caused by a novel amyloidogenic mutation of the transthyretin gene: ATTR Ala45Ser. Amyloid. 2000 Jun;7(2):137-40. [PubMed:10842718 ]
  109. de Carvalho M, Moreira P, Evangelista T, Ducla-Soares JL, Bento M, Fernandes R, Saraiva MJ: New transthyretin mutation V28M in a Portuguese kindred with amyloid polyneuropathy. Muscle Nerve. 2000 Jul;23(7):1016-21. [PubMed:10882995 ]
  110. Ellie E, Camou F, Vital A, Rummens C, Grateau G, Delpech M, Valleix S: Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu). Neurology. 2001 Jul 10;57(1):135-7. [PubMed:11445644 ]
  111. Yazaki M, Varga J, Dyck PJ, Benson MD: A new transthyretin variant Leu55Gln in a patient with systemic amyloidosis. Amyloid. 2002 Dec;9(4):268-71. [PubMed:12557757 ]
  112. Lim A, Prokaeva T, McComb ME, O'Connor PB, Theberge R, Connors LH, Skinner M, Costello CE: Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping and DNA sequence analysis. Anal Chem. 2002 Feb 15;74(4):741-51. [PubMed:11866053 ]
  113. Lachmann HJ, Booth DR, Booth SE, Bybee A, Gilbertson JA, Gillmore JD, Pepys MB, Hawkins PN: Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med. 2002 Jun 6;346(23):1786-91. [PubMed:12050338 ]
  114. Blevins G, Macaulay R, Harder S, Fladeland D, Yamashita T, Yazaki M, Hamidi Asl K, Benson MD, Donat JR: Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His. Neurology. 2003 May 27;60(10):1625-30. [PubMed:12771253 ]
  115. Lim A, Prokaeva T, McComb ME, Connors LH, Skinner M, Costello CE: Identification of S-sulfonation and S-thiolation of a novel transthyretin Phe33Cys variant from a patient diagnosed with familial transthyretin amyloidosis. Protein Sci. 2003 Aug;12(8):1775-85. [PubMed:12876326 ]
  116. Busse A, Sanchez MA, Monterroso V, Alvarado MV, Leon P: A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys). Am J Med Genet A. 2004 Jul 15;128A(2):190-4. [PubMed:15214015 ]
  117. Frigerio R, Fabrizi GM, Ferrarini M, Cavallaro T, Brighina L, Santoro P, Agostoni E, Cavaletti G, Rizzuto N, Ferrarese C: An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy. Amyloid. 2004 Jun;11(2):121-4. [PubMed:15478468 ]
  118. Bergen HR 3rd, Zeldenrust SR, Butz ML, Snow DS, Dyck PJ, Dyck PJ, Klein CJ, O'Brien JF, Thibodeau SN, Muddiman DC: Identification of transthyretin variants by sequential proteomic and genomic analysis. Clin Chem. 2004 Sep;50(9):1544-52. Epub 2004 Jun 24. [PubMed:15217993 ]
  119. Rosenzweig M, Skinner M, Prokaeva T, Theberge R, Costello C, Drachman BM, Connors LH: A new transthyretin variant (Glu61Gly) associated with cardiomyopathy. Amyloid. 2007 Mar;14(1):65-71. [PubMed:17453626 ]
  120. Bergstrom J, Patrosso MC, Colussi G, Salvadore M, Penco S, Lando G, Marocchi A, Ueda A, Nakamura M, Ando Y: A novel type of familial transthyretin amyloidosis, ATTR Asn124Ser, with co-localization of kappa light chains. Amyloid. 2007 Jun;14(2):141-5. [PubMed:17577687 ]
  121. Altland K, Benson MD, Costello CE, Ferlini A, Hazenberg BP, Hund E, Kristen AV, Linke RP, Merlini G, Salvi F, Saraiva MJ, Singer R, Skinner M, Winter P: Genetic microheterogeneity of human transthyretin detected by IEF. Electrophoresis. 2007 Jun;28(12):2053-64. [PubMed:17503405 ]
  122. Augustin S, Llige D, Andreu A, Gonzalez A, Genesca J: Familial amyloidosis in a large Spanish kindred resulting from a D38V mutation in the transthyretin gene. Eur J Clin Invest. 2007 Aug;37(8):673-8. [PubMed:17635579 ]