TTR Citations II

Literature Citations for Sequence Mutations of Human Transthyretin II
Ser77Tyr Wallace MR, Dwulet FE, Williams EC, Conneally PM, and Benson MD. (1986). Identification of a new hereditary amyloid prealbumin variant, Tyr-77, associated with autosomal dominant amyloidosis. Am J Hum Genet. 39:A22.
Libbey CA, Rubinow A, Shirahama T, Deal C, and Cohen AS. (1984). Familial amyloid polyneuropathy. Demonstration of prealbumin in a kinship of German/English ancestry with onset in the seventh decade. Am J Med. 76:18-24.
Wallace MR, Dwulet FE, Williams EC, Conneally PM and Benson MD. (1988). Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis. J Clin Invest. 81:189-93.
Satier F, Nichols WC, and Benson MD. (1990). Diagnosis of familial amyloidotic polyneuropathy in France. Clin Genet. 38:469.
Adams D, Reilly M, Harding AE, and Said G. (1992) [Demonstration of genetic mutation in most of the amyloid neuropathies with sporadic occurrence]. Rev Neurol. 148:736-741.
Zhao N, Aoyama N, Benson MD, Skinner M, Satier F, and Sakaki Y. (1994). Haplotype analysis of His58, Ala60, and Tyr77 types of familial amyloidotic polyneuropathy. Amyloid: Int J Exp Clin Invest. 1:75-79.
Blanco-Jerez CR, Jimenez-Escrig A, Gobernado JM, Lopez-Calva, de Blas G, Redondo C, Garcia Villanueva M, and Orensanz L. (1998). Transthyretin Tyr77 familial amyloid polyneuropathy: a clinicopathological study of a large kindred. Muscle Nerve. 21:1478-1485.
Schormann N, Murrell JR, and Benson MD. (1998). Tertiary structures of amyloidogenic and non-amyloidogenic transthyretin variants: new model for amyloid fibril formation. Amyloid: Int J Exp Clin Invest. 5:175-187.
Ile84Asn Skinner M, Harding J, Skare I, Jones LA, Cohen AS, Milunsky A, and Skare J. (1992). A new transthyretin mutation associated with vitreous opacities. Asparagine for isoleucine at position 84. Ophthalmology. 99:503-508.
Waits RP, Yamada T, Uemichi T, and Benson MD. (1995). Low plasma concentrations of retinol-binding protein in individuals with mutations affecting position 84 of the transthyretin molecule. Clin Chem. 41:1288-1291.
Ile84Ser Dwulet FE, and Benson MD. (1986). Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss) J Clin Invest. 78:880-886.
Falls HF, Jackson JH, Carey JG, Rukavina JG, and Block WD. (1955). Ocular manifestations of hereditary primary systemic amyloidosis. Arch Ophthalmol. 54:660-664.
Rukavina JG, Block WD, Jackson CE, Falls HF, Carey JH, and Curtis AC. (1956). Primary systemic amyloidosis: A review and an experimental, genetic, and clinical study of 29 cases with particular emphasis on the familial form. Medicine. 35:239-334.
Benson MD, and Dwulet FE. (1983). Prealbumin and retinol binding protein serum concentrations in the Indiana type hereditary amyloidosis. Arthritis Rheum. 26:1493-1498.
Refetoff S, Dwulet FE, and Benson MD. (1986). Reduced affinity for thyroxine in two of three structural thyroxine-binding prealbumin variants associated with familial amyloidotic polyneuropathy. J Clin Endocrinol Metab. 63(6):1432-1437.
Wallace MR, Conneally PM, Benson MD. (1988). A DNA test for Indiana/Swiss hereditary amyloidosis (FAP II). Am J Hum Genet. 43:182-187.
Nicols WC, Padilla LM, Benson MD. (1989). Prenatal detection of a gene for hereditary amyloidosis. Am J Med Genet. 34:520-524.
Berni R, Malpeli G, Folli C, Murrell JR, Liepnieks JJ, and Benson MD. (1994). The Ile-84 to Ser amino acid substitution in transthyretin interferes with the interaction with plasma retinol-binding protein. J Biol Chem. 269:23395-23398.
Waits RP, Uemichi T, and Benson MD. (1995). Haplotype analysis of the transthyretin gene: evidence for multiple recurrence of the Met30 mutation in the Caucasian population. Amyloid: Int J Exp Clin Invest. 2:114-118.
Waits RP, Yamada T, Uemichi T, and Benson MD. (1995). Low plasma concentrations of retinol-binding protein in individuals with mutations affecting position 84 of the transthyretin molecule. Clin Chem. 41:1288-1291.
Hamilton JA, Steinrauf LK, Braden BC, Murrell JR, and Benson MD. (1996). Structural changes in transthyretin produced by the Ile 84 Ser mutation which would result in decreased affinity for retinol- binding protein. Amyloid: Int J Exp Clin Invest. 3:1-12.
Zolyomi Z, Benson MD, Halasz K, Uemichi T, and Fekete G. (1998). Transthyretin mutation (serine 84) associated with familial amyloid polyneuropathy in a Hungarian family. Amyloid: Int J Exp Clin Invest. 5:30-34.
Ile84Thr Stangou AJ, Hawkins PN, Heaton ND, Rela M, Monaghan M, Nihoyannopoulos P, O’Grady J, Pepys MB, and Williams R. (1998). Progressive cardiac amyloidosis following liver transplantation for familial amyloid polyneuropathy: implications for amyloid fibrillogenesis. Transplantation. 66:229-233.
Booth DR, Stangou A, Williams RS, Gillmore JD, Tennent GA, and Hawkins PN. (2000). Transthyretin Ile84Thr is associated with familial amyloid polyneuropathy. Hum Mutat. 16(5):447.
Glu89Gln Almeida MR, Ferlini A, Forabosco A, Gawinowicz M, Costa PP, Salvi F, Plasmati R, Tassinari CA, Altland K, and Saraiva MJ. (1992). Two Transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis. Hum Mutat. 1:211-215.
Skare JC, Saraiva MJ, Alves IL, Skare IB, Milunsky A, Cohen AS, and Skinner M. (1989). A new mutation causing familial amyloidotic polyneuropathy. Biochem Biophys Res Commun. 164:1240-1246.
Glu89Lys Skare JC, Saraiva MJ, Alves IL, Skare IB, Milunsky A, Cohen AS, and Skinner M. (1989). A new mutation causing familial amyloidotic polyneuropathy. Biochem Biophys Res Commun. 164:1240-1246.
Nakamura M, Asl KH, and Benson MD. (1999). A novel variant of transthyretin (Glu 89 Lys) associated with familial amyloidotic polyneuropathy. The 4th Int’l Symp on FAP and Other TTR Related Disorders. Umea; Sweden, June 1999.
Nakamura M, Asl KH, and Benson MD. (2000). A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy. Amyloid. 7(1):46-50.
His90Asn Skare JC, Milunsky Hm, Milunsky A, Skare IB, Cohen AS, Skinner M. (1991). A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90. Clin Genet. 39:6-12.
Saraiva MJ, Almeida MR, Alves IL, Moreira P, Gawinowicz M, Costa PP, Rauh S, Banhzoff A, and Altland K. (1991). Molecular analysis of an acidic transthyretin Asn 90 variant. Am J Hum Genet. 48:1004-1008.
Skare JC, Saraiva MJ, Alves IL, Skare IB, Milunsky A, Cohen AS, and Skinner M. (1989). A new mutation causing familial amyloidotic polyneuropathy. Biochem Biophys Res Commun. 164:1240-1246.
Alves IL, Almeida MR, Skare J, Skinner M, Kurose K, Sakaki Y, Costa PP, and Saraiva MJ. (1992). Amyloidogenic and non-amyloidogenic transthyretin Asn 90 variants. Clin Genet. 42:27-30.
Skare J, Jones LA, Myles N, Kane K, Milunsky A, Cohen A, and Skinner M. (1994). Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis. Clin Genet. 45:281-284.
Alves IL, Altland K, Almeida MR, Winter P, Saraiva MJ. (1997). Screening and biochemical characterization of transthyretin variants in the Portuguese population. Hum Mutat. 9:226-233.
Ala91Ser Skare JC, Saraiva MJ, Alves IL, Skare IB, Milunsky A, Cohen AS, and Skinner M. (1989). A new mutation causing familial amyloidotic polyneuropathy. Biochem Biophys Res Commun. 164:1240-1246.
Misrahi AM, Plante V, Lalu T, Serre L, Adams D, Lacroix DC, and Said G. (1998). New transthyretin variants SER 91 and SER 116 associated with familial amyloidotic polyneuropathy. Hum Mutat. 12(1):71.
Plante-Bordeneuve V, Lalu T, Misrahi M, Reilly MM, Adams D, Lacroix C, and Said G. (1998). Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy. Neurology. 51:708-714.
Gln92Lys Saito F, Nakazato M, Akiyama H, Kitahara Y, Date Y, Iwasaki Y, Harasawa S, Hisaki R, Horie T, Kinukawa N, Watanabe T, Sakamaki T, Yagi H, Hoshii Y, Yutani C, and Kanmatsuse K. (2001). Hum Pathol. 32(2):237-239.
Ala97Gly Yasuda T, Sobue G, Doyu M, Nakazato M, Shiomi K, Yanagi T, and Mitsuma T. (1994). Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: A Japanese kindred with novel mutant transthyretin (Ala97 to Gly) J Neurol Sci. 121:97-102.
Tachibana N, Tokuda T, Yoshida K, Taketomi T, Nakazato M, Li YF, Masuda Y, and Ikeda S. (1999). Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy. Amyloid. 6:282-288.
Lachmann HJ, Booth DR, Bybee A, and Hawkins PN. (2000). Transthyretin Ala97Ser is associated with familial amyloidotic polyneuropathy in a Chinese-Taiwanese family. Hum Mutat. Mutation and polymorphism report #142.
Ala97Ser Tachibana N, Tokuda T, Yoshida K, Taketomi T, Nakazato M, Li YF, Masuda Y, and Ikeda S. (1999). Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy. Amyloid. 6:282-288.
Lachmann HJ, Booth DR, Bybee A, and Hawkins PN. (2000). Transthyretin Ala97Ser is associated with familial amyloidotic polyneuropathy in a Chinese-Taiwanese family. Hum Mutat. Mutation and Polymorphism Report #142.
Gly101Ser Kishikawa M, Nakanishi T, Miyazaki A, Hatanaka M, Shimizu A, Tamoto S, Ohsawa N, Hayashi H, and Kanai M. (1998). A new non-amyloid transthyretin variant, [G101S], detected by electrospray ionization/mass spectrometry. Hum Mutat, Mutation in Brief. 12:363.
Shimizu A, Nakanishi T, Kishikawa M, Miyazaki A, and Koyama I. (1998). [Detection and characteration of aberrant blood proteins and quantification of glycated hemoglobin by mass spectrometry]. Rinsho Byori. 46:461-468.
Pro102Arg Almeida MR, Altland K, Rauf S, Gawinowicz M, Moreira P, Costa PP, and Saraiva MJ. (1991). Characterization of a basic transthyretin variant TTR Arg102 in the German Population. Biochem Biophys Acta. 1097:224-226.
Altland K. (1999). Common molecular characteristic of amyloidogenic TTR mutations. The 4th Int’l Symp on FAP and Other TTR Related Disorders. Umeå Sweden, June 1999.
Arg104Cys Torres MF, Serra J, Ochoa JL, and Saraiva MJ. (1996). A new transthyretin (TTR) variant – TTR cysteine 104. Neuromuscular Disord (Supplement). 6:S.
Saraiva MJ, Torres M de F, Serra J and Ochoa J. (1999). A new transthyretin variant -ATTR Arg104C. Amyloid: Int J Exp Clin Invest 6:149-151.
Arg104His Matasunaga N, Ando Y, Terazaki H, Misumi S, Obayashi K, Ando E, Shoji S, Negi A, Nakagawa K, Ishizaki T, Uchino M, and Ando M. (1999). A Novel Transthyretin (TTR) Mutation (TTR Arg104His) in Familial Amyloidotic Polyneuropathy (FAP ATTR Val30Met). The 4th Int’l Symp on FAP and Other TTR Related Disorders. Umeå Sweden, June 1999.
Terazaki H, Ando Y, Misumi S, Nakamura M, Ando E, Matsungaga N, Shoji S, Okuyama M, Ideta H, Nakagawa K, Ishizaki T Ando M, and Saraiva MJM. (1999). A novel compound heterozygote (FAP ATTR Arg104His/ATTR Val30Met) with high serum transthyretin (TTR) and retinal binding protein (RBP) levels. Biochem Biophys Res Commun. 264:365-370.
Almeida MR, Alves IL, Terazaki H, Ando Y, and Saraiva MJ. (2000). Comparative studies of two transthyretin variants with protective effects on familial amyloidotic polyneuropathy: TTR R104H and TTR T119M. Biochem Biophys Res Commun. 270:1024-1028.
Lim A, McComb ME, O’Connor PB, Prokaeva T, Connors LH, Skinner M, and Costello CE. (2001). Identification of novel transthyretin variants in familial amyloidosis by MALDI peptide mapping and ESI tandem mass spectrometry. 49th Annual Conference on Mass Spectrometry and Allied Topics. Chicago, IL, USA: May 27-31, 2001.
Ile107Val Jacobson DR, Gertz MA, and Buxbaum JN. (1994) Transthyretin VAL107 a new variant associated with familial cardiac and neuropathic amyloidosis. Hum Mutat. 3:399-401.
Uemichi T, Gertz MA, and Benson MD. (1994). Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107). J Med Genet. 31:416-417.
Plante-Bordeneuve V, Lalu T, Misrahi M, Reilly MM, Adams D, Lacroix C, and Said G. (1998). Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy. Neurology. 51:708-714.
Ala109Ser Date Y, Nakazato M, Kangawa K, Shirieda K, Fujimoto T, and Matsukura S. (1997). Detection of three transthyretin gene mutation in familial amyloidotic polyneuropathy by analysis of DNA extracted form formalin-fixed and paraffin-embedded tissues. J Neurol Sci. 150:143-148.
Ala109Thr Moses AC, Lawlor J, Haddow J, and Jackson I. (1982). Familial euthyroid hyperthyroxinemia resulting from increased thyroxine-binding prealbumin. N Engl J Med. 306:966.
Moses AC, Rosen HN, Moller DE, Tsuzaki S, haddon JE, Lawlor J, Liepjnieks JJ, Nichols WC, and Benson MD. (1990). A point mutation in transthyretin increases affinity for thyroxine and produces euthroid hyperthyroxinemia. J Clin Invest. 86:2025-2033.
Steinrauf LK, Hamilton JA, Braden BC, Murrell JR, and Benson MD. (1990). X-ray crystal structure of the Ala-109–>Thr variant of human transthyretin which produces euthyroid hyperthyroxinemia. J Biol Chem. 268:2425-2430.
Murrell JR, Schoner RG, Liepieks JJ, Rosen HN, Moses AC, and Benson MD. (1992). Production and functional analysis of normal and variant recombinant human transthyretin proteins. J Biol Chem. 267:16595-16600.
Rosen HN, Murrell JR, Liepnieks JJ, Benson MD, Cody V, and Moses AC. (1992). Threonine for alanine substitution at position 109 of transthyretin differentially alters human transthyretin’s affinity for iodothyronines. Endocrinology. 134:27-34.
Alves IL, Altland K, Almeida MR, Winter P, and Saraiva MJ. (1997). Screening and biochemical characterization of transthyretin variants in the Portuguese population. Hum Mutat. 9:226-233.
Ala109Val Izumoto S, Kornberg J and Herbert J. (1993). Two transthyretin variants associated with euthryroid hyperthyroxinemia. J Rheumatol. 20:186.
Leu111Met Nordlie M, Sletten K, Husby G, and Panlov PJ. (1988). A new prealbumin variant in familial amyloid cardiomyopathy of Danish origin. Scand J Immunol. 27:119-122.
Frederiksen T, Gotzsh H, Kiaer W, and Mellemgaard K. (1962). Familial primary amyloidosis with severe amyloid heart disease. Am J Med. 33:328-348.
Nordvag BY, Husby G, Ranlov I, el-Gewely MR. (1992). Molecular diagnosis of the transthyretin (TTR) Met111 mutation in familial amyloid cardiomyopathy of Danish origin. Hum Genet. 89:459-461.
Ranlov I, Alves IL, Ranlov PJ, Hushby G, Costa PP, and Saraiva MJM. (1992). A Danish kindred with familial amyloid cardiomyopathy revisited: Identification of a mutant transthyretin-methionine111 variant in serum from patients and carriers. Am J Med. 93:3-8.
Almeida MR, and Saraiva MJ. (1996). Thyroxine binding to transthyretin (TTR) variants — two variants (TTR Pro 55 and TTR Met 111) with a particularly low binding affinity. Eur J Endocrinol. 135:226-230.
Svendesen IH, Steensgaard-Hansen F, and Nordvag BY. (1999). [Hereditary amyloid cardiomyopathy related to a mutation at transthyretin protein number 111. A clinical, genetic, and echocardiographic study of an affected Danish family]. Ugeskr Laeger.  161:4995-4999.
Ser112Ile De Lucia R, Mauro A, Di Scapio A, Buffo A, Mortara R, Orsi L, and Schiffer D. (1993). A new mutation on the transthyretin gene (Ser112 to Ile) causes an amyloid neuropathy with severe cardiac impairment. Clin Neuropathol. 12:S44.
Tyr114Cys Ueno S, Uemichi T, Yorifuji S, and Tarui S. (1990). 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. 169:143-147.
Uemichi T, Ueno S, Takahashi N, Soga F, Yorifuji S, and Tarui S. (1991). [DNA tests for mutant genes coding for transthyretins Gly42, Arg50, and Cys114 in Japanese cases of familial amyloid polyneuropathy]. Rinsho Shinikeigaku. 31:1151-1154.
Ueno S, Fujimura H, Yorifuji S, Nakamura Y, Takahashi M, Tarui S, and Yanagihara T. (1992). Familial amyloid polyneuropathy associated with the transthyretin cys114 gene in a Japanese kindred. Brain. 115:1275-1289.
Ando Y, Almeida M, Ohlsson PI, Ando E, Negi A, Suhr O, Terazaki H, Obayashi K, Ando M and Saraiva MJ. (1999). Unusual self-association properties of transthyretin Y114C related to familial amyloidotic polyneuropathy: effects on detection and quantitiation. Biochem Biophys Res Commun. 261:264-269.
Ando Y, Yamashia T, Ando E, Terazaki H, Obayashi K, Fujise N, Ohlsson P-I, Suhr OB, Negi A, Ando M, and Miyakawa T. (1999). Analysis of vitreous amyloid of patients with familial amyloidotic polyneuropathy (FAP ATTR Tyr114Cys) The 4th Int’l Symp on FAP and Other TTR Related Disorders. Umeå Sweden, June 1999.
Tyr114His Murakami T, Tachiban S, Endo Y, Kawai R, Hara M, Tanase S, and Ando M. (1994). Familial carpal tunnel syndrome due to amyloidogenic transthyretin His114 variant. Neurology. 44:315-318.
Mochizuki H, Kamakura K, Masaki T, Hirata A, Tokuda T, Yazaki M, Motoyoshi K, and Ikeda S. (2001). Nodular cutaneous amyloidosis and carpal tunnel syndrome due to the amyloidogenic transthyretin His 114 variant. Amyloid. 8(2):105-110.
Tyr116Ser Misrahi AM, Plante V, Lalu T, Serre L, Adams D, Lacroix DC, and Said G. (1998). New transthyretin variants SER 91 and SER 116 associated with familial amyloidotic polyneuropathy. Hum Mutat. 12(1):71.
Plante-Bordeneuve V, Lalu T, Misrahi M, Reilly MM, Adams D, Lacroix C, and Said G. (1998). Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy. Neurology. 51(3):708-714.
Thr118Met Nelis E, Holmberg B, Adolfsson R, Holmgran G, and van Broeckhoven C. (1997). PMP22 Thr(118): recessive CMT1 mutation or polymorphism? Nat Genet. 15:13-14.
Thr119Met Harrison HH, Gordon ED, Nichols WC, and Benson MD. (1991). Biochemical and clinical characterization of prealbuminCHICAGO: An apparently benign variant of serum prealbumin (transthyretin) discovered with high-resolution two-dimensional electrosphoresis. Am J Med Genet. 39:442-452.
Ii S, Sobell JL, Sommer SS. (1992). From molecular variant to disease: initial steps in evaluating the association of transthyretin M119 with disease. Am J Hum Genet. 50:29-41.
Curtis AJ, Scrimshaw BJ, Topliss DJ, Stockigt JR, George PM, and Barlow JW. (1994). Thyroxime binding by human transthyretin variants: mutations at position 119, but not position 54, increase thyroxine binging affinity. J Clin Endocrinol Metab. 78:459-462.
Alves IL, Altland K, Almeida MR, Winter P, Saraiva MJ. (1997). Screening and biochemical characterization of transthyretin variants in the Portuguese population. Hum Mutat. 9:226-33.
Longo Alves I, Hays MT, Sarviava MJ. (1997) Comparative stability and clearance of [Met30] transthyretin and [Met119] transthyretin. Eur J Biochem. 249:662-668.
Quintas A, Saraiva MJM, and Brito RMM. (1997). The amyloidogenic potential of transthyretin variants correlates with their tendency to aggregate in solution. FEBS Letters. 418:297-300.
Schormann N, Murrell JR, and Benson MD. (1998). Tertiary structures of amyloidogenic and non-amyloidogenic transthyretin variants: new model for amyloid fibril formation. Amyloid: Int J Exp Clin Invest. 5:175-187.
Almeida MR, Alves IL, Terazaki H, Ando Y, and Saraiva MJ. (2000). Comparative studies of two transthyretin variants with protective effects on familial amyloidotic polyneuropathy: TTR R104H and TTR T119M. Biochem Biophys Res Commun. 270:1024-1028.
Ala120Ser Gillmore JD, Booth DR, Pepys MB, and Hawkins PN. (1999). Familial amyloid polyneuropathy in an Afro-Caribbean patient associated with a novel transthyretin variant, serine 120. The 4th  Int’l Symp on FAP and Other TTR Related Disorders. Umeå Sweden, June 1999.
Loss of Val122 Uemichi T, Liepnieks JJ, Waits RP, and Benson MD. (1996). In frame deletion in the transthyretin gene (loss of V122) associated with amyloidotic polyneuropathy. Neuromuscular Disord (Supplement) 6:S.
Uemichi T, Liepniecks JJ and Benson MD. (1997). A trinucleotide delection in the transthyretin gene (delta V 122) in a kindred with familial amyloidotic polyneuropathy.  Neurology. 48:1667-1670.
Val122Ala Theberge R, Connors L, Skare J, Skinner M, Falk RH, and Costello CE. (1999). A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient. Amyloid: Int J Exp Clin Invest. 6:54-58.
Val122Ile Gorevic PD, Prelli FC, Wright J, Pras M, and Frangione B. (1989). Systemic senile amyloidosis. Identification of a new prealbumin (transthyretin) variant in cardiac tissue: Immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy. J Clin Invest. 83:836-843.
Jacobson DR, Gorevic PD, and Buxbaum JN. (1990). A homozygous transthyretin variant associated with senile systemic amyloidosis: evidence for a late-onset disease of genetic etiology. Am J Hum Genet. 47:127-136.
Saraiva MJM, Sherman W, Marboe C, Figueira A, Costa P, De Freitas AF, and Gawinowcz MA. (1990). Cardiac amyloidosis: Report of a patient heterozygous for the transthyretin isoleucine 122 variant. Scand J Immunol. 32:341-346.
Nichols WC, Liepnieks JJ, Snyder EL, and Benson MD. (1991). Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (ILE-122). J Lab Clin Med. 117:175-180.
Jacobson DR, Reveille JD, and Buxbaum JN. (1991). Frequency and genetic background of the position 122 (Val -> Ile) variant transthyretin gene in the black population. Am J Hum Genet. 49:192-198.
Jacobson DR, Pastore R, Pool S, Malendowicz S, Kane I, Shivji A, Embury SH, Ballas SK and Buxbaum JN. (1996). Revised transthyretin Ile122 allele frequency in African-Americans. Hum Genet 98:236-238.
Alves IL, Altland K, Almeida MR, Winter P, and Saraiva MJ. (1997). Screening and biochemical characterization of transthyretin variants in the Portuguese population. Hum Mutat. 9:226-33.
Jacobson DR, Ittmann M, Buxbaum JN, Wieczorek R and Gorevic PD. (1997). Transthyretin Ile-122 and cardiac amyloidosis in African-Americans. 2 Case reports. Tex Heart Inst J. 24:45-52.
Jacobson DR, pastore RD, Yaghoubian R, Kane I, Gallo G, Buck FS and Buxbaum JN. (1997). Varian-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. N Engl J Med. 336:466-473.
Connors LH, Ericsson T, Skare J, Jones LA, Lewis WD, and Skinner M. (1998). A simple screening test for variant transthyretins associated with familial transthyretin amyloidosis using isoelectric focusing. Biochim Biophys Acta. 1407:185-192.
Gillmore JD, Booth DR, Pepys MB, and Hawkins PN. (1999). Hereditary cardiac amyloidosis associated with the transthyretin Ile122 mutation in a white man. Heart (Br Card Soc Online). 82:e2.
Theberge R, Connors L, Skinner M, Skare J, and Costello CE. (1999). Characterization of transthyretin mutants from serum using immunoprecipitation, HPLC/electrospray ionization and matrix-assisted laser desorption/ionization mass spectrometry. Anal Chem. 71:452-459.
Afolabi I, Asl KH, Nakamura M, Jacobs P, Hendrie H, and Benson MD. (2000). Transthyretin isoleucine-122 mutation in African and American blacks. Amyloid: Int J Exp Clin. 7:121-125.
Pro125Ser Ferlini A, Rapezzi C, Magnani B, Winter P, Altland K, Vezzoni P, and Patrosso MC. (1996). A compound heterozygous patient for two TTR mutations, affected with isolated restrictive amyloidotic cardiomyopathy. Neuromuscular Disord (Supplement). 6:S.

 
Senile Systemic Amyloidosis Koeppen AH, Mitzen EJ, Hans MB, Peng SK, and Bailey RO. (1985). Familial amyloid polyneuropathy. Muscle Nerve. 8:733-749.
Maeda S, Mita S, Araki S, and Shimada K. (1986). Structure and expression of the mutant prealbumin gene associated with familial amyloidotic polyneuropathy. Mol Biol Med. 3:329-338.
Lalloz MR, Byfield PG. Goel KM, Loudon MM, Thomson JA, and Himsworth RL. (1987). Hyperthyroxinemia due to the coexistence of two raised affinity thyroxine-binding proteins (albumin and prealbumin) in one family. J Clin Endocrinol Metab. 64:346-352.
Holmgren G, Drugge U, Lundgren E, Sandgren O, and Steen L. (1988). [Identification of genetic carriers in familial amyloidosis with polyneuropathy is possible with the DNA technic]. Lakartidningen. 85:3677-3679.
Maury CP, Teppo AM, Karinemi AL, and Koeppen AH. (1988). Amyloid fibril protein in familial amyloidosis with cranial neuropathy and corneal lattice dystrophy (FAP type IV) is related to transthyretin. Am J Clin Pathol. 89:359-364.
Uitti RJ, Donat JR, Rozdilsky B, Schneider RJ, and Koeppen AH. (1988). Familial oculoleptomeningeal amyloidosis. Report of a new family with unusual features. Arch Neurol. 45:1118-1122.
Gorevic PD, Prelli FC, Wright J, Pras M, and Frangione B. (1989). Systemic senile amyloidosis. Identification of a new prealbumin (transthyretin) variant in cardiac tissue: Immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy. J Clin Invest. 83:836-843.
Jacobson DR, Gorevic PD, and Buxbaum JN. (1990). A homozygous transthyretin variant associated with senile systemic amyloidosis: evidence for a late-onset disease of genetic etiology. Am J Hum Genet. 47(1):127-136.
Morita K, Yahara O, Onodera S, Kawamura Y, Matsuhashi H, and Nakazato M. (1990). Familial amyloidotic polyneuropathy in Hokkaido: a case report. Jpn J Med. 29:61-65.
Saraiva MJ, Sherman W, Marboe C, Figueira A, Costa P, de Freitas AF, and Gawinowicz MA. (1990). Cardiac amyloidosis: report of a patient heterozygous for the transthyretin isoleucine 122 variant. Scand J Immunol. 32(4):341-346.
Westermark P, Sletten K, Johansson B, and Cornwell GG 3d. (1990). Fibril in senile systemic amyloidosis is derived from normal transthyretin. Proc Natl Acad Sci USA. 87:2843-2845.
Christmanson L, Betsholtz C, Gustavsson A, Johansson B, Sletten K, and Westermark P. (1991). The transthyretin cDNA sequence is normal in transthyretin-derived senile systemic amyloidosis. FEBS Lett. 28:177-180.
Nichols WC, Liepnieks JJ, Snyder EL, and Benson MD. (1991). Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (ILE-122). J Lab Clin Med. 117:175-180.
Saraiva MJ. (1995). Transthyretin mutations in health and disease. Hum Mutat. 5:191-196.
GENERAL Benson MD. (1995). Amyloidosis. In Scriver CR, Beaudet AK, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease. 7th ed. Vol 3. pp. 4159-4191. (New York: McGraw-Hill).
Storkel S, Bohl J, and Schneider HM. (1983). Senile amyloidosis: principles of localization in a heterogeneous form of amyloidosis. Virchows Arch B Cell Pathol Incl Mol Pathol. 44:145-161.
Ide M, Mita S, Ikegawa S, Maeda S, Himada K, and Araki S. (1986). Identification of carriers of mutant prealbumin gene associated with familial amyloidotic polyneuropathy type I by Southern blot procedures: study of six pedigrees in the Arao district of Japan. Hum Genet. 73:281-285.
Wallace MR, Conneally PM, Long GL, and Benson MD. (1986). Molecular detection of carriers of hereditary amyloidosis in a Swedish-American family. Am J Med Genet. 25:335-41.
Nakazato M, Steen L, Holmgren G, Kurihara T, Matsukura S, Kangawa K, and Matsuo H. (1987). Structurally abnormal transthyretin causing familial amyloidotic polyneuropathy in Sweden. Clin Chim Acta. 167:341-2.
Martone RL, Herbert J, Dwork A, and Schon EA. (1988). Transthyretin is synthesized in the mammalian eye. Biochem Biophys Res Commun. 151:905-912.
Matsubara E, Tanaka M, Hirai S, Okamoto K, and Nakazato M. (1988). [Familial amyloidotic polyneuropathy without familial occurrence but with asymptomatic carriers discovered by radioimmunoassay of variant transthyretin]. Rinsho Shinkeigaku. 28:275-279.
Tanaka M, Hirai S, Matsubara E, Okamoto K, Morimatsu M, and Nakazato M. (1988). Familial amyloidotic polyneuropathy without familial occurrence: carrier detection by the radioimmunoassay of variant transthyretin. J Neurol Neurosurg Psychiatry. 51:576-578.
Saraiva MJ, Costa PP, and Goodman DS. (1988). Transthyretin (prealbumin) in familial amyloidotic polyneuropathy: genetic and functional aspects. Adv Neurol. 48:189-200.
Benson MD, and Wallace MR. (1989). Genetic amyloidosis: recent advances. Adv Nephrol Necker Hosp. 18:129-137.
Holt IJ, Harding AE, Middleton L, Chrysostomou G, Said G, King RH, and Thomas PK. (1989). Molecular genetics of amyloid neuropathy in Europe. Lancet. 1(8637):524-526.
Nakazato M, Tanaka M, Matsukura S, Kangawa K, and Matsuo H. (1989). Quantitative analysis of amyloid fibril protein in systemic organs of patients with familial amyloidotic polyneuropathy. J Neurol Sci. 89:235-242.
Takahashi K, Yi S, Kimura Y, and Araki S. (1991). Familial amyloidotic polyneuropathy type 1 in Kumamoto, Japan: clinicopathologic, histochemical, immunohistochemical, and ultrastructural study. Hum Pathol. 22:519-527.
Ushiyama M, Ikeda S, and Yanagisawa N. (1991). Transthyretin-type cerebral amyloid angiopathy in type I familial amyloid polyneuropathy. Acta Neuropathol (Berl). 81:524-528.
Ferlini A, Fini S, Salvi F, Patrosso MC, Vezzoni P, and Forabosco A. (1992). Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis. FASEB J. 6(10):2864-2866.
Li K, Kyle RA, and Dyck PJ. (1992). Immunohistochemical characterization of amyloid proteins in sural nerves and clinical associations in amyloid neuropathy. Am J Pathol. 141:217-226.
Murrell JR, Schoner RG, Liepnieks JJ, Rosen HN, Moses AC, and Benson MD. (1992). Production and functional analysis of normal and variant recombinant human transthyretin proteins. J Biol Chem. 267(23):16595-16600.
Sunada Y, Shimizu T, Mannen T, and Kanazawa I. (1992). [Familial amyloidotic polyneuropathy type IV (Finnish type)–the first description of a large kindred in Japan]. Rinsho Shinkeigaku. 32:826-833.
Abstracts. (1993). Familial amyloidotic polyneuropathy and other transthyretin related disorders. 2nd international symposium. Skelleftea, Sweden, June 1-3. J Rheumatol. 20:173-198.
Bhatia K, Reilly M, Adams D, Davis MB, Hawkes CH, Thomas PK, Said G, and Harding AE. (1993). Transthyretin gene mutations in British and French patients with amyloid neuropathy. J Neurol Neurosurg Psychiatry. 56:694-697.
Costa PM, Teixeira A, Saraiva MJ and Costa PP. (1993). Immunoassay for transthyretin variants associated with amyloid neuropathy. Scand J Immunol. 38:177-182.
Hesse A, Altland K, Linke RP, Almieda MR, Saraiva MJ, Steinmetz A and Maisch B. (1993). Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant. Br Heart J. 70:111-115.
Hsu SP, and Cheng SY. (1993). Type I familial amyloid polyneuropathy – report of a family in Taiwan. Chang Keng I Hsueh Tsa Chih. 16:193-202.
Nakagawa H, Fugita T, Izumoto S, Kubo S, Nakajima Y, Tsuruzono K, Kodama K, Higashiyama M, Doi O, and Hayakawa T. (1993). Cis-diamminedichloroplatinum (CDDP) therapy for brain metastasis of lung cancer. I. Distribution within the central nervous system after intravenous and intracarotid infusion. J Neurooncol. 16:61-7.
Reilly MM, and King RH. (1993). Familial amyloid polyneuropathy. Brain Pathol. 3:165-176.
Rosen HN, Moses AC, Murrell JR, Liepnieks JJ, and Benson MD. (1993). Thyroxine interactions with transthyretin: a comparison of 10 different naturally occurring human transthyretin variants. 77(2):370-374.
Leger JM, Grateau G, Gugenheim M, Hauw JJ, Bouche P, and Brunet P. (1994). Genetic expression of a transthyretin mutation in a case of amyloidotic polyneuropathy occurring in an African. Neurology. 44:181.
Reilly MM, Adams D, Booth DR, Davis MB, Said G, Laubriat-Bianchin M, Pepys MB, Thomas PK, and Harding AE. (1995). Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy. Brain. 118(Pt 4):849-856.
McCutchen SL, Lai Z, Miroy GJ, Kelly JW, and Colon W. (1995). Comparison of lethal and nonlethal transthyretin variants and their relationship to amyloid disease. Biochemistry. 34:13527-13536.
Murakami T, Uchino M and Ando M. (1995). Genetic abnormalities and pathogenesis of familial amyloidotic polyneuropathy. Pathol Int 45:1-9.
Nakazato M. (1995). [Protein and DNA sequencing analyses of transthyretin in familial amyloidotic polyneuropathy]. Rinsho Shinkeigaku. 35:1436-1437.
Reilly MM, Adams D, Booth DR, Davis MB, Said G, Laubriat-Bianchin M, Pepys MB, Thomas PK, and Harding AE. (1995). Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy. Brain. 118(4):849-56.
Benson MD. (1996). Leptomeningeal amyloid and variant transthyretins. Am J Pathol. 148(2):351-354.
Benson MD, and Uemichi T. (1996). Transthyretin amyloidosis. Amyloid: Int J Exp Clin Invest. 3:44-56.
Coelho T. (1996). Familial amyloid polyneuropathy: new developments in genetics and treatment. Curr Opin Neurol. 9:355-359.
Gouveia D, Carranca J, Lousada N, Adao M, Ferreira T, Pereira T, and Correia M. (1996). [Cardiac amyloidosis: review of the literature]. Rev Port Cardiol. 15:657-664.
Reilly MM, and Staunton H. (1996). Peripheral nerve amyloidosis. Brain Pathol. 6:163-177.
Ando Y, Nyhlin N, Suhr O, Holmgren G, Uchida K, el Sahly M, Yamashita T, Terasaki H, Nakamura M, Uchino M, and Ando M. (1997). Oxidative stress is found in amyloid deposits in systemic amyloidosis. Biochem Biophys Res Commun. 232:497-502.
Galappatthy P, Wijeweera I, Wijesekara JC, Kodikara DR, and Fonseka HC. (1997). Familial amyloid polyneuropathy in a Sri Lankan Family. Ceylon Med J. 42:33-5.
Takahashi K, Sakashita N, Ando Y, Suga M, and Ando M. (1997). Late onset type I familial amyloidotic polyneuropathy: presentation of three autopsy cases in comparison with 19 autopsy cases of the ordinary type. Pathol Int. 47:353-9.
Dray JM, and Bletry O. (1997). [Can amyloidosis regress?] Rev Prat. 47:1798-1801.
McCarthy RE 3rd, and Kasper EK. (1998). A review of the amyloidoses that infiltrate the heart. Clin Cardiol. 21:547-552.
Plante-Bordeneuve V, Lalu T, Misrahi M, Reilly MM, Adams D, Lacroix C, and Said G. (1998). Genotypic-phenotypic variations in series of 65 patients with familial amyloid polyneuropathy. Neurology. 51:708-714.
Plante-Bordeneuve V, Ferreira A, Misrahi M, Adams D, and Said G. (1999). Genotypic and phenotypic spectrum of transthyretin amyloidosis in the French population. The 4th Int’l Symp on FAP and Other TTR Related Disorders. Umeå, Sweden. June, 1999.
Connors LH, Richardson AM, Theberge R, and Costello C. (2000). Sequence Communication: Tabulation of transthyretin (TTR) variants as of 1/1/2000. Amyloid: Int J Exp Clin Invest. 7:54-69.
Kishikawa M, Nakanishi T, Shimizu A, and Yoshino M. (2000). Detection by mass spectrometry of highly increased amount of S-sulfonated transthyretin in serum from a patient with molybdenum cofactor deficiency. Pediatric Research. 47(4):492-494.
Methods Ando Y, Ohlsson PI, Suhr O, Nyhlin N, Yamashita T, Holmgren G, Danielsson A, Sandgren O, Uchino M, and Ando M. (1996). A new simple and rapid screening method for variant transthyretin-related amyloidosis. Biochem Biophys Res Commun. 228:480-483.
Ranlov I, Ando Y, Ohlsson PI, Holmgren G, Ranlov PJ, and Suhr OB. (1997). Rapid screening for amyloid-related variant forms of transthyretin is possible by electrospray ionization mass spectrometry. 27(11):956-959.
Ando Y, Anan I, Suhr O, Holmgren G, and Costa PM. (1998). Detection of a variant protein in hair: new diagnostic method in Portuguese type familial amyloid polyneuropathy. BMJ. 316:1500.
Connors LH, Ericsson T, Skare J, Jones LA, Lewis WD, and Skinner M. (1998). A simple screening test for variant transthyretins associated with familial transthyretin amyloidosis using isoelectric focusing. Biochim Biophys Acta. 1407:185-192.
Rostom AA, Sunde M, Richardson SJ, Schreiber G, Jarvis S, Bateman R, Dobson CM, and Robinson CV. (1998). Dissection of multi-protein complexes using mass spectrometry: subunit interactions in transthyretin and retinol-binding protein complexes. Proteins. Suppl 2:3-11.
Altland K, Winter P, and Sauerborn MK. (1999). Electrically neutral microheterogeneity of human plasma transthyretin (prealbumin) detected by isoelectric focusing in urea gradients. Electrophoresis. 20(7):1349-1364.
Lendoire JC, Trigo P, Aziz H, Romero MC, Inventarza O, Ando Y, Tashima K, Ohlsson PI, Cederquist K, Holmgren G, and Suhr OB. (1999). Variant transthyretin (TTR) amyloidosis in Argentina. Detection of the trait by electrospray ionization mass spectrometry of lyophilized TTR immunoprecipitate. Scand J Clin Lab Invest. 59:613-618.
Tachibana N, Tokuda T, Yoshida K, Taketomi T, Nakazato M, Li YF, Masuda Y, and Ikeda S. (1999). Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy. 6(4):282-288.
Theberge R, Connors L, Skinner M, and Costello CE. (1999). Characterization of transthyretin mutants from serum using immunoprecipitation, HPLC/electrospray ionization and matrix-assisted laser desorption/ionization mass spectrometry. Anal Chem. 71:452-459.
Westermark P, Araki S, Benson MD, Cohen AS, Frangione B, Masters CL, Saraiva MJ, Sipe JD, Husby G, Kyle RA, and Selkoe D. (1999). Nomenclature of amyloid fibril proteins. Report from the meeting of the International Nomenclature Committee on Amyloidosis, August 8-9, 1998. Part I.  Amyloid. 6(1):63-66.
Bergquist J, Andersen O, and Westman A. (2000). Rapid method to characterize mutations in transthyretin in cerebrospinal fluid from familial amyloidotic polyneuropathy patients by use of matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Clin Chem. 46(9):1293-1300.
Theberge R, Connors LH, Skinner M, and Costello CE. (2000). Detection of transthyretin variants using immunoprecipitation and matrix-assisted laser desorption/ionization bioreactive probes: a clinical application of mass spectrometry. J Am Soc Mass Spectrom. 11:172-175.
Yamashita T, Ando Y, Bernt Suhr O, Nakamura M, Sakashita N, Ohlsson PI, Terazaki H, Obayashi K, Uchino M, and Ando M. (2000). A new diagnostic procedure to detect unknown tranthyretin (TTR) mutations in familial amyloidotic polyneuropathy (FAP). J Neurol Sci. 173(2):154-159.
Stability/Structure Refetoff S, Dwulet FE, and Benson MD. (1986). Reduced affinity for thyroxine in two of three structural thyroxine-binding prealbumin variants associated with familial amyloidotic polyneuropathy. J Clin Endocrinol Metab. 63(6):1432-1437.
Yoshioka K, Sasaki H, Yoshioka N, Furuya H, Harada T, Kito S, and Sakaki Y. (1986). Structure of the mutant prealbumin gene responsible for familial amyloidotic polyneuropathy. Mol Biol Med. 3(4):319-320.
Nakazato M, Steen L, Holmgren G, Kurihara T, Matsukura S, Kangawa K, and Matsuo H. (1987). Structurally abnormal transthyretin causing familial amyloidotic polyneuropathy in Sweden. Clin Chim Acta. 167:341-2.
Hamilton JA, Steinrauf LK, Liepnieks J, Benson MD, Holmgren G, Sandgren O, and Steen L. (1992). Alteration in molecular structure which results in disease: the Met-30 variant of human plasma transthyretin. Biochem Biophys Acta. 1139(1-2):9-16.
Hamilton JA, Steinrauf LK, Braden BC, Liepnieks J, Benson MD, Holmgren G, and Sandgren O. (1993). 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. 268(4):2416-2424.
Steinrauf LK, Hamilton JA, Braden BC, Murrell JR, and Benson MD. (1993). X-ray crystal structure of the Ala-109–>Thr variant of human transthyretin which produces euthyroid hypertyhroxinemia. J Biol Chem. 268(4):2425-2430.
Serpell LC, Sunde M, Fraser PE, Luther PK, Morris EP, Sangren O, Lundgren E, and Blake CC. (1995). Examination of the structure of the transthyretin amyloid fibril by image reconstruction from electron micrographs. J Mol Biol. 254(2):113-118.
Waits RP, Yamada T, Uemichi T, and Benson MD. (1995). Low plasma concentrations of retinol- binding protein in individuals with mutations affecting position 84 of the transthyretin molecule. Clin Chem. 41(9):1288-1291.
Hamilton JA, Steinrauf LK, Braden BC, Murrell JR, and Benson MD. (1996). Structural changes in transthyretin produced by the Ile 84 Ser mutation which result in decreased affinity for retinol-binding protein. Amyloid: Int J Exp Clin Invest. 3:1-12.
Saraiva MJ, Almeida MR, Alves IL, Bonifacio MJ, Damas AM, Palha JA, Goldsteins G, and Lundgren E. (1996). Modulating conformational factors in transthyretin amyloid. Ciba Found Symp. 199:47-52.
Yamada T, Liepnieks J, Benson MD, and Kluve-Beckerman B. (1996). Accelerated amyloid deposition in mice treated with the aspartic protease inhibitor, pepstatin. J Immunol. 157(2):901-907.
Booth DR, Sunde M, Bellotti V, Robinson CV, Hutchinson WL, Fraser PE, Hawkins PN, Dobson CM, Radford SE, Blake CC, Pepys MB. (1997). Instability, unfolding and aggregation of human lysozyme variants underlying amyloid fibriollogenesis. Nature. 385:787-793.
Quintas A, Saraiva MJM, and Brito RMM. (1997). The amyloidogenic potential of transthyretin variants correlates with their tendency to aggregate in solution. FEBS Letters 418:297-300.
Baures PW, Peterson SA, and Kelly JW. (1998). Discovering transthyretin amyloid fibril inhibitors by limited screening. Bioorg Med Chem. 6:1389-1401.
Nettleton EJ, Sunde M, Lai Z, Kelly JW, Dobson CM, and Robinson CV. (1998). Protein subunit interactions and structural integrity of amyloidogenic transthyretins: evidence from electrospray mass spectrometry. JMB. 281:553-564.
Almeida MR, Alves IL, Terazaki H, Ando Y, and Saraiva MJ. (2000). Comparative studies of two transthyretin variants with protective effects on familial amyloidotic polyneuropathy: TTR R104H and TTR T119M. Biochem Biophys Res Commun. 270:1024-1028.
Damas AM, and Saraiva MJ. (2000). Review: TTR amyloidosis — structural features leading to protein aggregation and their implications on therapeutic strategies. J Struct Biol. 130:290-299.
Ericzon B, Holmgren G, Lundgren E, and Suhr OB. (2000). New structural information and update on liver transplantation in transthyretin-associated amyloidosis. Amyloid: Int J Exp Clin Invest. 7(2):145-147.
Hornberg A, Eneqvist T, Olofsson A, Lundgren E, and Sauer-Eriksson AE. (2000). A comparative analysis of 23 structures of the amyloidogenic protein transthyretin. JMB. 302:649-669.
Liu K, Cho HS, Hoyt DW, Nguyen TN, Olds P, Kelly JW, and Wemmer DE. (2000). Deuterium-proton exchange on the native wild-type transthyretin tetramer identifies the stable core of the individual subunits and indicates mobility at the subunit interface. JMB. 303:555-565.
Liu K, Cho HS, Lashuel HA, Kelly JW, and Wemmer DE. (2000). A glimpse of a possible amyloidogenic intermediate of transthyretin. Nature Structural Biology. 7(9):754-757.
Redondo C, Damas AM, and Saraiva JM. (2000). Designing transthyretin mutants affecting tetrameric structure: implications in amyloidogenicity. Biochem J. 348:167-172.
Treatment Suhr OB, Ando Y, Holmgren G, Wikstrom L, Friman S, Herlenius G, and Ericzon BG. (1998). Liver transplantation in familial amyloidotic polyneuropathy (FAP). A comparative study of transplanted and non-transplanted patient’s survival. Transpl Int. 11(Suppl 1):S160-S163.
Altland K, and Winter P. (1999). Potential treatment of transthyretin-type amyloidoses by sulfite. Neurogenetics. 2:183-188.
Azoulay D, Samuel D, Castaing D, Adam R, Adams D, Said G, and Bismuth H. (1999). Domino liver transplants for metabolic disorders: experience with familial amyloidotic polyneuropathy. J Am Coll Surg. 189(6):584-593.
Schmidt HH, Nashan B, Propsting MJ, Nakazato M, Flemming P, Kubicka S, Boker K, Pichlmayr R, and Manns MP. (1999). Familial amyoidotic polyneuropathy: domino liver transplantation. J Hepatol. 30(2):293-298.
Adams D, Samuel D, Goulon-Goeau C, Nakazato M, Costa PM, Feray C, Plante V, Ducot B, Ichai P, Lacroix C, Metral S, Bismuth H, and Said G. (2000). The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation. Brain. 123(7):1495-1504.
Ericzon B, Holmgren G, Lundgren E, and Suhr OB. (2000). New structural information and update on liver transplantation in transthyretin-associated amyloidosis. Amyloid: Int J Exp Clin Invest. 7(2):145-147.
Shaz BH, Gordon F, Lewis WD, Jenkins RL, Skinner M, and Khettry U. (2000). Orthotopic liver transplantation for familial amyloidotic polyneuropathy: a pathological study. Human Pathology. 31(1):40-44.
Suhr OB, Herlenius G, Friman S, and Ericzon BG. (2000). Liver transplantation for hereditary transthyretin amyloidosis. Liver Transpl. 6(3):263-276.