| Gly6Ser |
Fitch NJS, Akbari MT, and Ramsden DB. (1991). An inherited non-amyloidogenic transthyretin variant, [Ser6]-TTR, with increased thyroxine-binding affinity, characterized by DNA sequencing. J Endocrinol. 129:309-313. |
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Lalloz MRA, Byfield PGH, 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. |
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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. 267:16595-16600. |
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Jacobson DR, and Buxbaum JN. (1994). A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient “SKO” with familial amyloidotic polyneuropathy. Hum Mutat. 3:254-260. |
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Jacobson DR, Alves IL, Saraiva MJ, Thibodeau SN and Buxbaum JN. (1995). Transthyretin Ser 6 gene frequency in individuals without amyloidosis. Hum Gen 95:308-312. |
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Ando Y, Suhr O, Yamashita T, Ohlsson P-I, Holmgren G, Obayashi K, Terazaki H, Mambule C, Uchino M, and Ando M. (1997). Detection of different forms of variant transthyretin (Met30) in cerebrospinal fluid. Neurosci Lett. 238:123-126. |
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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. |
| Cys10Arg |
Uemichi T, Murrell JR, Zeldemrust S, and Benson MD. (1992). A new mutant transthyretin (Arg10) associated with familial amyloid polyneuropathy. J Med Genet. 29:888-891. |
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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. |
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Ando Y, Nakamura M, Suhr OB, and Saraiva M. (1999). Change in transthyretin (TTR) forms in oxidative stress: the role of cysteine 10. The 4th Int’l Symp on FAP and Other TTR Related Disorders. Umeå Sweden, June 1999. |
| Leu12Pro |
Booth D R, Booth SE, Persey MR, Tan SY, Madhoo S, Pepys MB, and Hawkins PN. (1996). Three new amyloidogenic TTR mutations: PRO12, GLU18, and VAL33. Neuromuscular Disord (Supplement) 6:S28. |
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Brett M, Persey MR, Reilly MM, Revesz T, Booth DR, Booth SE, Hawkins PN, Pepys MB, and Morgan-Hughes JA. (1999). Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. Brain. 122(Pt 2):183-190. |
| Asp18Glu |
Booth D R, Booth SE, Persey MR, Tan SY, Madhoo S, Pepys MB, and Hawkins PN. (1996). Three new amyloidogenic TTR mutations: PRO12, GLU18, and VAL33. Neuromuscular Disord (Supplement) 6:S28. |
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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. |
| Asp18Gly |
Vidal R, Garzuly H, Lalowski M, Linke RP, Brittig F, Frangione B, and Wisniewski T. (1996). Meningocerebrovascular amyloidosis associated with a novel transthyretin (TTR) missense mutation at codon 18 (TTRD18G) Am J Pathol. 148:361-366. |
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Garzuly F, Vidal R, Wisniewski T, Brittig F, and Budka H. (1996). Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin. Neurology. 47:1562-1567. |
| Val20Ile |
Jenne DE, Denzel K, Blatzinger P, Winter P, Obermaier B, Linke RP, and Altland K. (1996). A new isoleucine substitution of Val-20 in transthyretin tetramers selectively impairs dimer-dimer contacts and causes systemic amyloidosis. Proc Natl Acad Sci USA. 93:6302-6307. |
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Jacobson DR, Pan T, Kyle RA, and Buxbaum JN. (1997). Transthyretin ILE20, a new variant associated with late-onset cardiac amyloidosis. Hum Mutat. 91:83-85. |
| Ser23Asn |
Connors LH, Theberge R, Skare J, Amico A, Costello CE, and Skinner M. (1999). Defining Familial Transthyretin Amyloidosis: Current Clinical Testing Approach. The 4th Int’l Symp on FAP and Other TTR Related Disorders. Umeå Sweden, June 1999. |
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Connors LH, Theberge R, Skare J, Costello CE, Falk RH, and Skinner M. (1999). A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient. Amyloid: Int J Exp Clin Invest. 6:114-118. |
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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. |
| Pro24Ser |
Uemichi T, Gertz MA, and Benson MD. (1995). A new transthyretin variant (Ser24) associated with familial amyloid polyneuropathy. J Med Genet. 32:279-281. |
|
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. |
| Ala25Ser |
Asl KH, Yazaki M, Yamashita T, Kincaid JC, Auger RG, Dyck PJ, Scott JR, and Benson MD. (2001). Rapidly progressive amyloid neuropathy associated with a novel transthyretin mutation (Ala25Ser). IXth International Symposium on Amyloidosis. Budapest, Hungary. July 15-21, 2001. |
| Val28Met |
Carvelho MD, Moreira P, Evangelista T, Ducla-Soares JL, Bento M, Fernandes R, and Saraiva MJ. (2000). New transthyretin mutation V28M in a Portuguese kindred with amyloid polyneuropathy. Muscle & Nerve. 23:1016-1021. |
| Val30Ala |
Jones LA, Skare JC, Cohen AS, Hardsin JA, Milunsky A, and Skinner M. (1992). Familial amyloidotic polyneuropathy: A new transthyretin position 30 mutation (alanine for valine) in a family of German descent. Clin Genet. 41:70-73. |
| Val30Gly |
Petersen RB, Goren H, Cohen M, Richardson SL, Tresser N, Lynn A, Gali M, Estes M, and Gambetti P. (1997). Transthyretin amyloidosis: a new mutation associated with dementia. Ann Neurol. 41:307-313. |
| Val30Leu |
Nakazato M, Ikeda S, Shiomi K, Matsukura S, Yoshida K, Shimizu H, Atsumi T, Kangawa K, and Matsuo H. (1992). Identification of a novel transthyretin variant (Val30 to Leu) associated with familial amyloidotic polyneuropathy. FEBS Lett. 306:206-208. |
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Murakami T, Atsumi T, Maeda S, Tanase S, Ishikawa K, Mita A, Kumamoto T, Araki S, and Ando M. (1992). A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy. Biochem Biophys Res Commun. 187:397-403. |
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Utsugisawa K, Tohgi H, Nagane Y, Yamagata M, Saito K and Mihara M. (1998). Familial amyloid polyneuropathy related to transthyretin mutation Val30 to Leu in a Japanese family. Muscle Nerve. 21:1783-1785. |
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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. 6:282-8. |
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Yazaki M, Tokuda T, Nakamura A, Higashikata T, Koyama J, Higuchi K, Harihara Y, Baba S, Kametani F, and Ikeda S. (2000). Cardiac amyloid in patiants with familial amyloid polyneuropathy consists of abundant wild-type transthyretin. Biochem Biophys Res Commun. 274:702-706. |
| Val30Met |
Dwulet FE and Benson MD. (1983). Polymorphisms of human plasma thyroxine binding prealbumin. Biochem Biophys Res Commun. 114:657-662. |
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Saraiva MJ, Costa PP, Birken S, and Goodman DS. (1983). Presence of an abnormal transthyretin (prealbumin) in Portuguese patients with familial amyloidotic polyneuropathy. Trans Assoc Am Physicians. 96:261-270. |
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Tawara S, Nakazato M, Kangawa K, Matsuo H, and Araki S. (1983). Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type). Biochem Biophys Res Commun. 116:880-888. |
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Nakazato M, Kangawa K, Minamino N, Tawara S, Matsuo H, and Araki S. (1984). Identification of a prealbumin variant in the serum of a Japanese patient with familial amyloidotic polyneuropathy. Biochem Biophys Res Commun. 122:712-718. |
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Saraiva MJ, Birken S, Costa PP, and Goodman DS. (1984). Amyloid fibril protein in familial amyloidotic polyneuropathy, Portugese type. Definition of molecular abnormality in transthyretin (prealbumin). J Clin Invest. 74:104-119. |
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Saraiva MJ, Birken S, Costa PP, and Goodman DS. (1984). Family studies of the genetic abnormality in transthyretin (prealbumin) in Portuguese patients with familial amyloidotic polyneuropathy. Ann N Y Acad Sci. 435:86-100. |
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Benson MD and Dwulet FE. (1985). Identification of carriers ofa variant plasma prealbumin (transthyretin) associated with familial amyloidotic polyneuropathy type I. J Clin Invest. 75:71-75. |
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Benson MD, Dwulet FE, Scheinberg MA and Greipp P. (1986). Chemical classification of hereditary amyloidosis in Brazilian families and identification of gene carriers. J Rheumatol. 13:927-931. |
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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. |
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Saraiva MJ, Costa PP, and Goodman DS. (1986). Genetic expression of a transthyretin mutation in typical and late-onset Portuguese families with familial amyloidotic polyneuropathy. Neurology. 36:1413-1417. |
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Saraiva MJ, Sherman W, and Goodman DS. (1986). Presence of a plasma transthyretin (prealbumin) variant in familial amyloidotic polyneuropathy in a kindred of Greek origin. J Lab Clin Med. 108:17-22. |
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Wada Y, Matsuo T, Katakuse I, Suzuki T, Azuma T, Tsujino S, Kishimoto S, Matsuda H and Hayashi A. (1986). Mass spectrometric detection of the plasma prealbumin (transthyretin) variant associated with familial amyloidotic polyneuropathy. Biochem Biophys Acta. 873:316-319. |
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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. 3:319-328. |
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Nakazato M, Sasaki H, Furuya H, Sakaki Y, Kurihara T, Matsukura S, Kangawa K, and Matsuo H. (1987). Biochemical and genetic characterization of type I familial amyloidotic polyneuropathy. Ann Neurol. 21:596-598. |
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Sequeiros J, and Saraiva MJ. (1987). Onset in the seventh decade and lack of symptoms in heterozygotes for the TTRMet30 mutation in hereditary amyloid neuropathy-type I (Portuguese, Andrade). Am J Med Genet. 27:345-357. |
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Westermark P. Sletten K, and Olofsson BO. (1987). Prealbumin variants in the amyloid fibrils of Swedish familial amyloidotic polyneuropathy. Clin Exp Immunol. 69:695-701. |
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Furuya H, Yoshioka K, Sasaki H, Sakaki Y, Nakazato M, Matsuo H, Nakadai A, Ikeda S, and Yanagisawa N. (1987). Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs. J Clin Invest. 80:1706-1711. |
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Holmgren G, Holmberg E, Lindstrom A, Lindstrom E, Nordenson I, Sandgren O, Steen L, Svensson, B, Lundgren E and von Gavin A. (1988). Diagnosis of familial amyloidotic polyneuropathy in Sweden by RFLP analysis. Clin Genet. 3:176-180. |
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Sandgren O, Holmgren G, Lundgren E, and Steen L. (1988). Restriction fragment length polymorphism analysis of mutated transthyretin in vitreous amyloidosis. Arch Ophthalmol. 106:790-792. |
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Munar-Ques M, Costa PP, Saraiva MJ, Viader-Farre C, and Munar-Bernat C. (1988). [Familial type I (Portuguese form) amyloidotic polyneuropathy in Majorca. Study using the TTR (Met30) genetic marker]. Med Clin. 91:441-444. |
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Holmgren G. Haettner, Nordenson I, Sandgren O, Steen L, and Lundgren E. (1988). Homozygosity for the transthyretin – met30 – gene in two Swedish sibs with familial amyloidotic polyneuropathy. Clin Genet. 34:333-338. |
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Saraiva MJ, Costa PP, Almeida M do R, Banzhoff A, Altland K, Ferlini A, Rubboli G, Plasmati R, Tassinari CA, and Romeo G. (1988). Familial amyloidotic polyneuropathy: transthyretin (prealbumin) variants in kindreds of Italian origin. Hum Genet. 80:341-343. |
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Kincaid JC, Wallace MR and Benson MD. (1989). Late-onset familial amyloid polyneuropathy in an American family of English origin. Neurology. 39:861-863. |
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Ando Y, Ikegawa S, Miyazaki A, Inoue M, Morino Y, and Araki S. (1989). Role of variant prealbumin in the pathogenesis of familial amyloidotic polyneuropathy: fate of normal and variant prealbumin in the circulation. Arch Biochem Biophys. 274:87-93. |
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Furuya H, Nakazato M, Saraiva MJ, Costa SP, Sasaki H, Matsuo H, Goto I, and Sakai Y. (1989). Tetramer formation of a variant type human transthyretin (prealbumin) produced by Escherichia coli expression system. Biochem Biophys Res Commun. 163(2):851-859. |
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Sakaki Y, Yoshioka K, Tanahashi H, Furuya H, and Sasaki H. (1989). Human transthyretin (prealbumin) gene and molecular genetics of familial amyloidotic polyneuropathy. Mol Biol Med. 6:161-168. |
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Yoshioka K, Furuya H, Sasaki H, Saraiva Mj, Costa PP, and Sakaki Y. (1989). Haplotype analysis of familial amyloidotic polyneuropathy. Evidence for multiple origins of the Val—Met mutation most common to the disease. Hum Genet. 82:9-13. |
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Almeida MR, Alves IL, Sakaki Y, costa PP, and Saraiva MJ. (1990). Prenatal diagnosis of familial amyloidotic polyneuropathy: evidence for an early expression of the associated transthyretin methoinine 30. Hum Genet. 85:623-626. |
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Sandgren O, Holmgren G, and Lundgren E. (1990). Vitreous amyloidosis associated with homozygosity for the transthyretin methionine-30 gene. Arch Ophthalmol. 108:1584-1586. |
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Skare J, Yazici H, Erken E, Dede H, Cohen A, Milunsky A, and Skinner M. (1990). Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy. Hum Genet. 86:89. |
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Holmgren G, Steen L, Ekstedt J, Groth C-G, Ericzon B-G, Eriksson S, Andersen O, Karlberg I, Norden G, Nakazato M, Hawkins P, Richardson S, and Pepys M. (1991). Biochemical effect of liver transplantation in two Swedish pastients with familial amyloidotic polyneuropathy (FAP-met30) Clin Genet. 40:242-246. |
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Yi S, Takahashi K, Naito M, Tashiro F, Wakasugi S, Maeda S, Shimada K, Tamamura K, and Araki S. (1991). Systemic amyloidosis in transgenic mice carrying the human mutant transthyretin (Met30) gene. Am J Pathol. 138:403-412. |
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Drugge U, Holmgren G, and Udd B. (1992). The first case of familial amyloidotic polyneuropathy (FAP Met30) in the Finnish population. Hum Hered. 42:184-188. |
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Hamilton JA, Steinrauf JK, 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. 1139:9-16. |
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Holmgren G, Bergstrom S, Drugge U, Lundgren E, Nording-Sikstrom C, Sandgren O, and Steen L. (1992). Homozygosity for the transthyretin-Met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences. Clin Genet. 41:39-41. |
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Kametani F, Ikeda S, Yanagisawa N, Ishi T, and Hanyu N. (1992). Characterization of a transthyretin-related amyloid fibril protein from cerebral amyloid angiopathy in type I familial amyloid polyneuropathy. J Neurol Sci. 108:178-183. |
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Nakazato M, Shiomi K, Miyazato M, and Matsukura S. (1992). Type I familial amyloidotic polyneuropathy in Japan. Intern Med. 31:1335-1338. |
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Yoshinaga T, Nakazato M, Ikeda S, and Ohnishi A. (1992). Homozygosity for the transthyretin – Met30 gene in three Japanese siblings with type I familial amyloidotic polyneuropathy. Neurology. 42:2045-2047. |
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Aoki K, Koike R, Yuasa T, Ikeda S, and Tsuji S. (1993). [A sporadic case of late onset familial amyloidotic polyneuropathy preceded by cardiac involvement]. Rinsho Shinkeigaku. 33:905-908. |
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Hamilton JA, Steinrauf LK, Braden BC, Liepnieks J, Benson MD, Holmgren G, Sandfren O, and Steen L. (1993). The X-ray crystal structure refinements of normal human transthyretin and the amyloidogenic Val30Met variant to 1.7 Angstrom resolution. J Biol Chem. 268:2416-2424. |
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Holmgren G, Lundgren E, Kangawa K, Kurihara T, Matuskura S, Matsuo H, Nakazato M, and Steen L. (1993). Diagnostic radioimmunoassay and DNA-analysis in Swedish and Japanese patients with familial amyloidotic polyneuropathy. Homozygosity for the TTR met30 gene. Acta Neurol Scand. 87:124-127. |
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Ii S, and Sommer SS. (1993). The high frequency of TTR M30 in familial amyloidotic polyneuropathy is not due to a founder effect. Hum Mol Genet. 2:1303-1305. |
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Thylen C, Wahlqvist J, Haettner E, Sandgren O, Holmgren G, and Lundgren E. (1993). Modifications of transthyretin in amyloid fibrils: analysis of amyloid from homozygous and heterozygous individuals with the Met30 mutation. EMBO J. 12:743-748. |
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Fiori MG, Salvi F, Plasmati R, Tessari F, Bianchi R, and Tassinari CA. (1994). Amyloid deposits in side myocardial fibers in transthyretin – Met30 familial amyloidotic polyneuropathy. A histological and biochemical study. Cardiology. 85:145-53. |
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Holmgren G, Costa PM, Andersson C, Asplund K, Steen L, Beckman L, Nylander PO, Teixeira A, Saraiva MJ, and Costa PP. (1994). Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate. J Med Genet. 31:351-354. |
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Almeida MR, Aoyama-Oishi N, Sakaki Y, Holmgren G, Ulf D, Ferlini A, Salvi F, Munar-oues M, Benson MD, and Skinner M. (1995). Haplotype analysis of common transthyretin mutations. Hum Genet. 96:350-354. |
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Ciulla TA, Tolentino F, Morrow JF, and Dryja TP. (1995). Vitreous amyloidosis in familial amyloidotic polyneuropathy. Report of a case with the Val30Met transthyretin mutation. Surv Ophthalmol. 40:197-206. |
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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. |
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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. |
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Di Iorio G, Sanges G, Sampaolo S, and Bonavita V. (1996). A comment on: ‘Molecular diagnosis of transthyretin Met30 mutation in an Italian family with familial amyloidotic polyneuropathy’ by Paola Strocchi et al., FEBS Letters 359 (1995) 203-205. FEBS Lett. 397:203-205. |
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Hanes D, Zech LA, Murrell J, and Benson MD. (1996). Metabolism of normal and Met30 transthyretin. Adv Food Nutr Res. 40:149-155. |
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Date Y, Nakazato M, Kangawa K, Shirieda K, Fujimoto T, and Matsukura S. (1997). Detection of three transthyretin gene mutations in familial amyloidotic polyneuropathy by analysis of DNA extracted from formalin-fixed and paraffin-embedded tissues. J Neurol Sci. 150:143-148. |
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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. |
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Ando Y, Ando E, Ohlsson PI, Olofsson A, Sandgren O, Suhr O, Terazaki H, Obayashi K, Lundgren E, Ando M, and Negi A. (1999). Analysis of transthyretin amyloid fibrils from vitreous samples in familial amyloidotic polyneuropathy (Val30Met). 6:119-123. |
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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. |
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Misu Ki, Hattori N, Nagamatsu M, Ikeda Si, Ando Y, Nakazato M, Takei Yi, Hanyu N, Usui Y, Tanaka F, Harada T, Inukai A, Hashizume Y, and Sobue G. (1999). Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features. Brain. 122(Pt 10):1951-1962. |
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Nadamura Y, Yutani C, Nakazato M, Date Y, Baba T, and Goto Y. (1999). A case of hereditary amyloidosis transthyretin variant met 30 with amyloid cardiomyopathy, less polyneuropathy, and the presence of giant cells. Pathol Int. 49:898-902. |
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Palacios SA, Bittencourt PL, Cancado EL, Farais AQ, Massarollo PC, Mies S, Kalil J, and Goldberg AC. (1999). Familial amyloidotic polyneuropathy type I in Brazil is associated with the transthyretin Val30Met variant. Amyloid. 6:289-291. |
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Terazaki H, Ando Y, Misumi S, Nakamura M, Ando E, Matsunaga 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 retinol binding protein (RBP) levels. Biochem Biophys Res Commun. 264:365-370. |
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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. |
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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. |
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Yazaki M, Tokuda T, Nakamura A, Higashikata T, Koyama J, Higuchi K, Harihara Y, Baba S, Kametani F, and Ikeda S. (2000). Cardiac amyloid in patiants with familial amyloid polyneuropathy consists of abundant wild-type transthyretin. Biochem Biophys Res Commun. 274:702-706. |
| Phe33Cys |
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. |
| Phe33Ile |
Nakazato M, Kangawa K, Minamino N, Tawara S, Matsuo H, and Araki S. (1984). Revised analysis of amino acid replacement in a prealbumin variant (SKO-III) associated with familial amyloidotic polyneuropathy of Jewish origin. Biochem Biophys Res Commun. 123:921-928. |
|
Jacobson DR, Santiago-Schwartz F and Buxbaum JN. (1988). Restriction fragment analysis confirms the position 33 mutation in transthyretin from an Israeli patient (SKO) with familial amyloidotic polyneuropathy. Biochem Biophys Res Commun. 153:198-202. |
|
Jacobson DR, and Buxbaum JN. (1994). A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient SKO with familial amyloidotic polyneuropathy. Hum Mutat. 3:254-260. |
| Phe33Leu |
Harding J, Skare J, and Skinner M. (1991). A second transthyretin mutation at position 33 (Leu/Phe) associated with familial amyloidotic polyneuropathy. Biochem Biophys Acta. 1097:183-186. |
| Phe33Val |
Booth DR, Booth SE, Persey MR, Tan SY, Madhoo S, Pepys MB, and Hawkins PN. (1996). Three new amyloidogenic TTR mutations: PRO12, GLU18, and VAL33. Neuromuscular Disord (Supplement). 6:S28. |
|
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. |
| Arg34Thr |
Patrosso MC, Vezzoni P, Salvi F, Gobbi P, Winter P, Altland K, and Ferlini A. (1996). Two new mutations in the transthyretin gene leading to polyneuropathy and cardiomyopathy in two unrelated Italian families. Neuromuscular Disord (Supplement). 6:S23. |
|
Patrosso MC, Salvi F, De Grandis D, Vexoni P, Jacobson DR, and Ferlini A. (1998). Novel Transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis. Am J Med Genet. 77:135-138. |
| Lys35Asn |
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. 118:849-856. |
|
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. |
| Ala36Pro |
Jones LA, Skare JC, Harding JA, Cohen AS, Milunsky A, and Skinner M. (1991). Proline at position 36: A new transthyretin mutation associated with familial amyloidotic polyneuropathy. Am J Hum Genet. 48:979-982. |
|
Jacobson DR, Rosenthal CJ, and Buxbaum JN. (1992). Transthyretin mutation associated with familial amyloidotic polyneuropathy in an Ashkenazic Jewish kindred. Hum Genet. 90:158-160. |
| Asp38Ala |
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. |
|
Janunger T, Tashima K, Suhr OB, Anan I, Ohlsson P-I, and Holmgren G. (1999). Clinicopathological findings of 2 familial amyloidosis patients with a novel TTR variant (Ala 38) The 4th Int’l Symp on FAP and Other TTR Related Disorders. Umeå Sweden, June 1999. |
|
Higashikata T, Yazaki M, Ikeda S, Nakamura A, and Higuchi K. (1999). Biochemical analysis of amyloid fibril protein in the heart of patients with Ala 38 TTR variant. The 4th International Symposium on FAP and Other TTR Related Disorders. Umeå Sweden, June 1999. |
|
Tachibana N, Tokuda T, Yoshida K, Taketoni 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. |
|
Yazaki M, Tokuda T, Nakamura A, Higashikata T, Koyama J, Higuchi K, Harihara Y, Baba S, Kametani F, and Ikeda S. (2000). Cardiac amyloid in patiants with familial amyloid polyneuropathy consists of abundant wild-type transthyretin. Biochem Biophys Res Commun. 274:702-706. |
| Trp41Leu |
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. |
|
Yazaki M, Connor LH, Eagle RC, Leff SR, Skinner M, and Benson MD. Transthyretin amyloidosis associated with a novel variant (Trp41Leu) presenting with vitreous opacities, submitted. |
| Glu42Asp |
Dupuy O, Bletry O, Blanc AS, Droz D, Viemont M, Delpech M, and Grateau G. (1998). A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis. Amyloid: Int J Exp Clin Invest. 5:285-287. |
| Glu42Gly |
Ueno S, Uemichi T, Takahashi N, Soga F, Yorifuji S, and Tarui S. (1990). 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. 169:1117. |
|
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. |
|
Uemichi T, Ueno S, Fujimura H, Umekage T, Yorifuji S, Matsuzawa Y, and Tarui S. (1992). Familial amyloid polyneuropathy related to transthyretin Gly42 in a Japanese family. Muscle Nerve. 15:1027. |
|
Murakami T, Yi S, Yamamoto K, Maruyama S, and Araki S. (1992). Familial amyloidotic polyneuropathy: report of patients heterozygous for the transthyretin Gly42 gene. Ann Neurol. 31:340-342. |
|
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(6):281-284. |
|
Toyooka K, Fujimura H, Ueno S, Yoshikawa H, Kaido M, Nishimura T, Yorifuji S, and Yanagihara T. (1995). Familial amyloid polyneuropathy associated with transthyretin Gly42 mutation: a quantitative light and electron microscopic study of the peripheral nervous system. Acta Neuropathol (Berl). 90:516-525. |
| Phe44Ser |
Klein CJ, Nakumura M, Jacobson DR, Lacy MQ, Benson MD, and Petersen RC. (1998). Transthyretin amyloidosis (serine 44) with headache, hearing loss, and peripheral neuropathy. Neurology. 51:1462-1464. |
| Ala45Asp |
Jacobson R, Gertz MA, Kane I, and Buxbaum JN. (1993). Genetic analysis of 9 unrelated patients with transthyretin (TTR)-cardiac amyloidosis. In R Kisilevsky, MD Benson, B Frangione, J Gauldie, TJ Muckle, and ID Young (eds) Amyloid and Amyloidosis 1993. pp. 474-476 (New York: Parthenon Publishing, Inc.). |
| Ala45Ser |
Janunger T, Tashima K, Suhr OB, Anan I, Ohlsson P-I, and Holmgren G. (1999). A novel mutation in the transthyretin gene in cardiac amyloidosis. The 4th Int’l Symp on FAP and Other TTR Related Disorders. Umeå Sweden, June 1999. |
|
Janunger T, Anan I, Holmgren G, Lovheim O, Ohlsson PI, Suhr OB, and Tashima K. (2000). Heart failure caused by a novel amyloidogenic mutation of the transthyretin gene: ATTR Ala45Ser. Amyloid. 7(2):137-140. |
| Ala45Thr |
Saraiva MJ, Almeida M do R, Sherman W, Gawinowicz M, Costa P, Costa PP, and Goodman DS. (1992). A new transthyretin mutation associated with amyloid cardiomyopathy. Am J Hum Genet. 50:1027-1030. |
| Gly47Ala |
Ferlini A, Salvi F, Patrosso C, Fini S, Vezzoni P, and Forabosco A. (1993). A new tranthyretin gene mutation in hereditary amyloidosis TTR-related. J Rheumatol. 20:187. |
|
Ferlini A, Patrosso MC, Repetto M, Frattini A, Villa A, Fini S, Salvi F, Vezzoni P and Forabosco A. (1994). A new mutation (TTR-Ala-47) in the transthyretin gene associated with hereditary amyloidosis. Hum Mut 4:61-64. |
|
Altland K, Benson MD, Kruger M, Linke RP, Manns MP, Uemichi T, and Winter P. (1996). Demon stration of mutant TTR (Ala47) in spinal fluid and its absence in plasma after liver transplantation. Neuromuscular Disord (Supplement). 6:S. |
|
Solaro C, Schenone A, Di Sapio A, Pradotto L, Mancardi GL, Primavera A, and Mauro A. (2000). An Italian family with Ala-47 transthyretin mutation associated with cardiomyopathy and polyneuropathy. Neuromusc Disord. 10:52-55. |
| Gly47Arg |
Murakami T, Maeda S, Yi S, Ikegawa S, Kawashima E, Onodera S, Shimada K, and Araki S. (1992). A novel transthyretin mutation associated with familial amyloidotic polyneuropathy. Biochem Biophys Res Commun. 182:520-526. |
|
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. |
| Gly47Glu |
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. |
| Gly47Val |
Booth DR, Soutar AK, Hawkins PN, Reilly M, Harding A, and Pepys MB. (1993). Three new amyloidogenic transthyretin gene mutations: Advantages of direct sequencing. In Kisilevsky R, Benson MD, Frangione B, Gauldie J, Muckle TJ, and Young ID (eds) Amyloid and Amyloidosis 1993. pp. 456-458. (New York: Parthenon Publishing, Inc.). |
| Thr49Ala |
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 Gln89) in two Sicilian kindreds with hereditary amyloidosis. Hum Mutat. 1:211-215. |
|
Benson MD II, Julien J, Leipnieks J, Zeldenrust S, and Benson MD. (1993). A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family. J Med Genet. 30:117-119. |
| Thr49Ile |
Nakamura M, Yamashita T, Ando Y, Hamidi Asi K, Tashima K, Ohlsson P, Kususe Y and Benson MD. (1999). Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotopic RNase cleavage assay. Hum Hered. 49:186-189. |
|
Mambule C, Ando Y, Nakamura M, Kusunose Y, Obayashi K, Tashima K, Ando E, Yamashita T, Terazaki H, Uchino M, and Ando M. (1999). Clinical Manifestations of Familial Amyloidotic Polyneuropathy (FAP) (ATTR Thr49Ile). The 4th International Symposium on FAP and Other TTR Related Disorders. Umeå Sweden, June 1999. |
| Ser50Arg |
Ueno S, Uemichi T, Takahashi N, Soga F, Yorifuji S, and Tarui S. (1990). 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. 169:1117-1121. |
|
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. |
|
Takahashi N, Ueno S, Uemichi T, Fujimura H, Yorifuji S, and Tarui S. (1992). Amyloid polyneuropathy with transthyretin Arg50 in a Japanese case from Osaka. J Neurol Sci. 112:58-62. |
|
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. |
| Ser50Ile |
Saeki Y, Ueno S, Takahashi N, Soga F, and Yanagihara T. (1992). A novel mutant (transthyretin Ile-50) related to amyloid polyneuropathy. FEBS Lett. 308:35. |
|
Nishi H, Kimura A, Harada H, Hayashi Y, Nakamura M, and Sasazuki T. (1992). Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis. Biochem Biophys Res Commun. 187:460-466. |
|
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. |
|
Mambule C, Ando Y, Nakamura M, Kusunose Y, Obayashi K, Tashima K, Ando E, Yamashita T, Terazaki H, Uchino M, and Ando M. (1999). Clinical Manifestations of Familial Amyloidotic Polyneuropathy (FAP) (ATTR Thr49Ile). The 4th Int’l Symp on FAP and Other TTR Related Disorders. Umeå Sweden, June 1999. |
|
Sakashita N, Ando Y, Obayashi K, Terazaki H, Yamashita T, Takei M, and Takahashi K. (1999). Familial amyloidotic polyneuropathy (Ser50Ile): The first autopsy case report. The 4th International Symposium on FAP and Other TTR Related Disorders. Umeå Sweden, June 1999. |
|
Sakashita N, Ando Y, Obayashi K, Terazaki H, Yamashita T, Takei M, Kinjo M, and Takahashi K. (1999). Familial amyloidotic polyneuropathy (Ser50Ile): The first autopsy case report. Virchows Arch. 436:345-350. |
| Glu51Gly |
Jacobson DR, Kane I, Pan T, Tufau P, Gertz MA, Gallo G, and Buxbaum JN. (1999). Late-onset cardiac amyloidosis and transthyretin variants: distinguishing between senile cardiac amyloidosis and familial amyloid cardiomyopathy. The 4th Int’l Symp on FAP and Other TTR Related Disorders. Umeå Sweden, June 1999. |
| Ser52Pro |
Booth DR, Soutar AK, Hawkins PN, Reilly M, Harding A, and Pepys MB. (1993). Three new amyloidogenic transthyretin gene mutations: Advantages of direct sequencing. In Kisilevsky R, Benson MD, Frangione B, Gauldie J, Muckle TJ, and Young ID (eds) Amyloid and Amyloidosis 1993. pp. 456-458. (New York: Parthenon Publishing, Inc.). |
|
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. |
| Gly53Glu |
Camou F, Drunat S, Valleix S, Viemont M, Delpech M, Grateau G, and Ellie E. (1999). A new mutant ttransthyretin Gly53Glu is associated with meningocerebrovascular amyloidosis in a Basque family. The 4th Int’l Symp on FAP and Other TTR Related Disorders. Umeå Sweden, June 1999. |
|
Ellie E, Camou F, Vital A, Rummens C, Grateau G, Delpech M, and Valleix S. (2001). Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu). Neurology. 57(1):135-137. |
| Glu54Gln |
|
| Glu54Gly |
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. 118:849-856. |
| Glu54Lys |
Togashi S, Watanabe H, Nagasaka T, Shindo K, Shiozawa Z, Maeda S, Tawata M, and Onaya T. (1999). An aggressive familial amyloidotic polyneuropathy caused by a new variant transthyretin Lys 54. Neurology. 53:637-639. |
| Leu55Arg |
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. |
| Leu55Pro |
Jacobson DR, McFarlin DE, Kane I, and Buxbaum JN. (1992). Transthyretin Pro55, a variant associated with early-onset, aggressive diffuse amyloidosis with cardiac and neurologic involvement. Hum Genet. 89:353-356. |
|
McCutchen SL, Colon W, and Kelly JW. (1993). Transthyretin mutation Leu-55-Pro significantly alters tetramer stability and increases amyloidogenicity. 32:12119-12127. |
|
Yamamoto K, Hsu SP, Yoshida K, Ikeda S, Nakazato, Shiomi K, Cheng SY, Furihata K, Ueno I, and Yanagisawa N. (1994). Familial amyloid polyneuropathy in Taiwan: Identification of transthyretin variant (Leu55 to Pro) Muscle – Nerve. 17:637-641. |
|
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. |
|
Chou CT, Lee CC, Chang DM, Buxbaum JN, and Jacobson DR. (1997). Familial amyloidosis in one Chinese family: clinical, immunological, and molecular genetic analysis. J Intern Med. 241:327-331. |
|
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. |
|
Sebastiao MP, Saraiva MJ, and Damas AM. (1998). The crystal structure of amyloidogenic Leu55–>Pro transthyretin variant reveals a possible pathway for transthyretin polymerization into amyloid fibrils. J Biol Chem. 273:24715-24722. |
| Leu58Arg |
Saeki Y, Ueno S, Yorifuji S, Sugiyama Y, Ide Y, and Matsuzawa Y. (1991). 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. 180:380-385. |
| Leu58His |
Nichols WC, Liepnieks JJ, McKusick VA, and Benson MD. (1989). Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification. Genomics. 5:535-540. |
|
Mahloudji M, Teasdall RD, Adamkiewicz JJ, Hartmann WH, Lambird PA, and McKusick VA. (1969). The genetic amyloidoses. With particular reference to hereditary neuropathic amyloidosis, type (Indiana or Rukavina type) Medicine. 48:1-37. |
|
Mendell JR, Jiang X-S, Warmolts JR, Nichols WC, and Benson MD. (1990). Diagnosis of Maryland/German familial amyloidotic polyneuropathy using allele-specific, enzymatically amplified genomic DNA. Ann Neurol. 27:553-557. |
|
Tagliavini F, Prelli F, Ghiso J, Bugiani O, Serban D, Prusiner SB, Farlow MR, Ghetti B, and Franione B. (1991). Amyloid protein of Gerstmann-Straussler-Scheinker disease (Indiana kindred) is an 11 kd fragment of prion protein with an N-terminal glycine at codon 58. EMBO J. 10:513-519. |
|
Jacobson DR, Gorevic PD, Sack GH, and Malamet RL. (1993). Homozygous transthyretin His 58 associated with unusually aggressive familial amyloidotic polyneuropathy. J Rheumatol. 20:178. |
|
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. |
|
Goebel HH, Seddigh S, Hopf HC, Uemichi T, Benson MD, and McKusick VA. (1997) A European family with histidine 58 transthyretin mutation in familial amyloid polyneuropathy. Neuromuscul Disord. 7:229-230. |
| Thr59Lys |
Booth DR, Tan SY, Hawkins PN, Pepys MB, and Frustaci A. (1995). A novel variant of transthyretin, 59Thr to Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family. Circulation. 91:962-967. |
|
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. |
| Thr60Ala |
Wallace MR, Dwulet FE, Conneally PM, and Benson MD. (1986). Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis. J Clin Invest. 78:6-12. |
|
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. |
|
Benson MD, Wallace MR, Tejada E, Beumann H, and Page B. (1987). Description of a new American kindred with late onset cardiomyopathy. Arthritis Rheum. 30:195-200. |
|
Koeppen AH, Wallace MR, Benson MD, and Altland K. (1990). Familial amyloid polyneuropathy: Alanine-for-threonine substitution in the transthyretin (prealbumin) molecule. Muscle Nerve. 13:1065. |
|
Staunton H, Davis MB, Guiloff RJ, Nakazato M, Miyazato N, and Harding AE. (1991). Irish (Donegal) amyloidosis is associated with the transthyretin ALA60 (Appalachian) variant. Brain. 114:2675-2679. |
|
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. |
|
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. |
|
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. |
| Glu61Lys |
Shiomi K, Nakazato M, Matsukura S, Ohnishi A, Hatanaka H, Tsuji S, Murai Y, Kojima M, Kangawa K and Matsuo H. (1993). A basic transthyretin variant (GLU61 to LYS) causes familial amyloidotic polyneuropathy: protein and DNA sequencing and PCR-induced mutation restriction analysis. Biochem Biophys Res Commun. 194:1090-1096. |
|
Yamamoto T, Matsunaga K, Ohnishi A, Nakazato M, and Murai Y. (1996). [A late onset familial amyloidotic polyneuropathy (FAP) with a novel variant transthyretin characterized by a basic-for-acidic amino acid substitution (Glu61–>Lys)]. Rinsho Shinkeigaku.36:1065-1068. |
| Phe64Leu |
Li S, Minnerath S, Ii K, Dyck PJ, and Sommer SS. (1991). Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations. Neurology. 41:893. |
| Phe64Ser |
Connors LH, Theberge R, Skare J, Amico A, Costello CE, and Skinner M. (1999). Defining Familial Transthyretin Amyloidosis: Current Clinical Testing Approach. The 4th Int’l Symp on FAP and Other TTR Related Disorders. Umeå Sweden, June 1999. |
|
Uemichi T, Uitti RJ, Koeppen AH, Donat JR, and Benson MD. (1999). Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64. Arch Neurol. 56:1152-1155. |
| Ile68Leu |
Almeida MR, Hesse JA, Steinmetz A, Maisch B, Altland K, Linke RP, Gawinowicz MA, and Saraiva MJM. (1991). Transthyretin Leu 68 in a form of cardiac amyloidosis. Basic Res Cardiol. 86:567-571. |
|
Salvi F, Martinelli P, Meletti S, Ferlini A, Dal Pozzo F, Obici L, Michelucci R, and Tassinari CA. (1999). Motor neuropathy as the unusual clinical presentation of TTR related hereditary amyloidosis (Ile 68 Leu). The 4th Int’l Symp on FAP and Other TTR Related Disorders. Umeå Sweden, June 1999. |
| Tyr69His |
Zeldenrust SR, Skinner M, Harding J, Skare J, and Benson MD. (1994). A new transthyretin variant (His 69) associated with vitreous amyloid in an FAP family. Amyloid: Int J Exp Clin Invest. 1:17-22. |
| Lys70Asn |
Izumoto S, Younger D, Hays AP, Martone RL, Smith RT, and Herbert J. (1992) Familial amyloidotic polyneuropathy presenting with carpal tunnel syndrome and a new transthyretin mutation, asparagine 70. Neurology. 42:2094-2102. |
| Val71Ala |
Almeida M do R, Lopez-Andreu F, Munar-Ques M, Costa PP, and Saraiva MJ. (1993). Transthyretin ALA 71: a new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy. Hum Mutat. 2:420-421. |
|
Benson MD II, Turpin JC, Lucotte G, Zeldenrust S, LeChevalier, and Benson MD. (1993). A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family. J Med Genet. 30: 120-122. |
|
Haagsma EB, Scheffer H, Altland K, De Jager AE, and Hazenberg BP. (2000). Transthyretin Val71Ala mutation in a Dutch family with familial amyloidotic polyneuropathy. Amyloid. 7(3):218-221. |
| Ile73Val |
Booth DR, Gillmore JD, Persey MR, Booth SE, Cafferty KD, Tennent GA, Madhoo S, Cochrane SW, Whitehead TC, Pasvol G and Hawkins PN. (1998). Transthyretin Ile73Val is associated with familial amyloidotic polyneuropathy in a Bangladeshi family. Mutations in Brief, no.158. Online. Human Mutation 12:135. |
| Asp74His |
Uemichi T, Liepnieks JJ, Altland K, and Benson MD. (1994). Identification of a novel non-amyloidogenic transthyretin polymorphism (His-74) in the German population. Amyloid: Int J Exp Clin Invest. 1:149-153. |
|
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