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Volumn 12, Issue 4, 2005, Pages 216-225

Biochemical characteristics of variant transthyretins causing hereditary leptomeningeal amyloidosis

Author keywords

Hereditary leptomeningeal TTR amyloidosis; Instability of TTR tetramer; Mass spectrometry; Transthyretin; TTR tetramerization

Indexed keywords

ISOPROTEIN; PREALBUMIN;

EID: 30744440378     PISSN: 13506129     EISSN: 17442818     Source Type: Journal    
DOI: 10.1080/13506120500352404     Document Type: Article
Times cited : (31)

References (37)
  • 1
    • 0021012829 scopus 로고
    • Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type)
    • Tawara S, Nakazato M, Kangawa K, Matsuo H, Araki S. Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type). Biochem Biophys Res Commun 1983;116:880-888.
    • (1983) Biochem Biophys Res Commun , vol.116 , pp. 880-888
    • Tawara, S.1    Nakazato, M.2    Kangawa, K.3    Matsuo, H.4    Araki, S.5
  • 4
    • 0037046222 scopus 로고    scopus 로고
    • Familial transthyretin-type amyloid polyneuropathy in Japan: Clinical and genetic heterogeneity
    • Ikeda S, Nakazato M, Ando Y, Sobue G. Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity. Neurology 2002;58:1001-1007.
    • (2002) Neurology , vol.58 , pp. 1001-1007
    • Ikeda, S.1    Nakazato, M.2    Ando, Y.3    Sobue, G.4
  • 5
    • 0242391993 scopus 로고    scopus 로고
    • Clinical and pathological findings of non-Val30Met TTR type familial amyloid polyneuropathy in Japan
    • Ikeda S, Takei Y, Tokuda T, Nakazato M, Ando Y. Clinical and pathological findings of non-Val30Met TTR type familial amyloid polyneuropathy in Japan. Amyloid 2003;10(Suppl):139-147.
    • (2003) Amyloid , vol.10 , Issue.SUPPL. , pp. 139-147
    • Ikeda, S.1    Takei, Y.2    Tokuda, T.3    Nakazato, M.4    Ando, Y.5
  • 6
    • 0023019098 scopus 로고
    • Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss)
    • Dwulet FE, Benson MD. Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss). J Clin Invest 1986;78:880-886.
    • (1986) J Clin Invest , vol.78 , pp. 880-886
    • Dwulet, F.E.1    Benson, M.D.2
  • 7
    • 0026592189 scopus 로고
    • Familial amyloid polyneuropathy associated with the transthyretin Cys114 gene in a Japanese kindred
    • Ueno S, Fujimura H, Yorifuji S, Nakamura Y, Takahashi M, Tarui S, Yanagihara T. Familial amyloid polyneuropathy associated with the transthyretin Cys114 gene in a Japanese kindred. Brain 1992;115:1275-1289.
    • (1992) Brain , vol.115 , pp. 1275-1289
    • Ueno, S.1    Fujimura, H.2    Yorifuji, S.3    Nakamura, Y.4    Takahashi, M.5    Tarui, S.6    Yanagihara, T.7
  • 8
    • 0029730803 scopus 로고    scopus 로고
    • Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp18Gly)
    • Garzuly F, Wisniewski T, Brittig F, Budka H. Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp18Gly). Neurology 1996;47:1562-1567.
    • (1996) Neurology , vol.47 , pp. 1562-1567
    • Garzuly, F.1    Wisniewski, T.2    Brittig, F.3    Budka, H.4
  • 13
    • 0032886881 scopus 로고    scopus 로고
    • Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64
    • Uemichi T, Uitti RJ, Koeppen AH, Donat JR, Benson MD. Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64. Arch Neurol 1999;56:1152-1155.
    • (1999) Arch Neurol , vol.56 , pp. 1152-1155
    • Uemichi, T.1    Uitti, R.J.2    Koeppen, A.H.3    Donat, J.R.4    Benson, M.D.5
  • 14
    • 0035838381 scopus 로고    scopus 로고
    • Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu)
    • Ellie E, Camou F, Vital A, Rummens C, Grateau G, Delpech M, Valleix S. Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu). Neurology 2001;57:135-137.
    • (2001) Neurology , vol.57 , pp. 135-137
    • Ellie, E.1    Camou, F.2    Vital, A.3    Rummens, C.4    Grateau, G.5    Delpech, M.6    Valleix, S.7
  • 15
    • 0037344272 scopus 로고    scopus 로고
    • Energetic characteristics of the new transthyretin variant A25T may explain its atypical central nervous system pathology
    • Sekijima Y, Hammarström P, Matsumura M, Shimizu Y, Iwata M, Tokuda T, Ikeda S, Kelly JW. Energetic characteristics of the new transthyretin variant A25T may explain its atypical central nervous system pathology. Lab Invest 2003;83:409-417.
    • (2003) Lab Invest , vol.83 , pp. 409-417
    • Sekijima, Y.1    Hammarström, P.2    Matsumura, M.3    Shimizu, Y.4    Iwata, M.5    Tokuda, T.6    Ikeda, S.7    Kelly, J.W.8
  • 17
    • 4644222175 scopus 로고    scopus 로고
    • Familial leptomeningeal amyloidosis with a transthyretin variant Asp18Gly representing repeated subarachnoid hemorrhages with superficial siderosis
    • Jin K, Sato S, Takahashi T, Nakazaki H, Date Y, Nakazato M, Tominaga T, Itoyama Y, Ikeda S. Familial leptomeningeal amyloidosis with a transthyretin variant Asp18Gly representing repeated subarachnoid hemorrhages with superficial siderosis. J Neurol Neurosurg Psychiatry 2004;75:1463-1466.
    • (2004) J Neurol Neurosurg Psychiatry , vol.75 , pp. 1463-1466
    • Jin, K.1    Sato, S.2    Takahashi, T.3    Nakazaki, H.4    Date, Y.5    Nakazato, M.6    Tominaga, T.7    Itoyama, Y.8    Ikeda, S.9
  • 18
    • 0038661338 scopus 로고    scopus 로고
    • D18G transthyretin is monomeric, aggregation prone, and not detectable in plasma and cerebrospinal fluid: A prescription for central nervous system amyloidosis?
    • Hammarström P, Sekijima Y, White JT, Wiseman RL, Lim A, Costello CE, Altland K, Garzuly F, Budka H, Kelly JW. D18G transthyretin is monomeric, aggregation prone, and not detectable in plasma and cerebrospinal fluid: A prescription for central nervous system amyloidosis? Biochemistry 2003;42:6656-6663.
    • (2003) Biochemistry , vol.42 , pp. 6656-6663
    • Hammarström, P.1    Sekijima, Y.2    White, J.T.3    Wiseman, R.L.4    Lim, A.5    Costello, C.E.6    Altland, K.7    Garzuly, F.8    Budka, H.9    Kelly, J.W.10
  • 19
    • 0033428635 scopus 로고    scopus 로고
    • Usefulness of MALDI/TOF mass spectrometry immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy
    • Tachibana N, Tokuda T, Yoshida K, Taketomi T, Nakazato M, Li YF, Masuda Y, Ikeda S. Usefulness of MALDI/TOF mass spectrometry immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy. Amyloid 1999;6:282-288.
    • (1999) Amyloid , vol.6 , pp. 282-288
    • Tachibana, N.1    Tokuda, T.2    Yoshida, K.3    Taketomi, T.4    Nakazato, M.5    Li, Y.F.6    Masuda, Y.7    Ikeda, S.8
  • 23
    • 0033638147 scopus 로고    scopus 로고
    • Postmortem findings in two familial amyloidosis patients with transthyretin variant Asp38A1a
    • Yazaki M, Takei Y, Katoh M, Ikeda S. Postmortem findings in two familial amyloidosis patients with transthyretin variant Asp38A1a. Amyloid 2000;7:270-277.
    • (2000) Amyloid , vol.7 , pp. 270-277
    • Yazaki, M.1    Takei, Y.2    Katoh, M.3    Ikeda, S.4
  • 25
    • 0025311146 scopus 로고
    • Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: Transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg)
    • Ueno S, Uemichi T, Takahashi N, Soga F, Yorifuji S, Tarui S. Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: Transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg). Biochem Biophys Res Commun 1990;169:1117-1121.
    • (1990) Biochem Biophys Res Commun , vol.169 , pp. 1117-1121
    • Ueno, S.1    Uemichi, T.2    Takahashi, N.3    Soga, F.4    Yorifuji, S.5    Tarui, S.6
  • 26
    • 0022472793 scopus 로고
    • Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis
    • Wallace MR, Dwulet FE, Conneally PM, Benson MD. Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis. J Clin Invest 1986;78:6-12.
    • (1986) J Clin Invest , vol.78 , pp. 6-12
    • Wallace, M.R.1    Dwulet, F.E.2    Conneally, P.M.3    Benson, M.D.4
  • 27
    • 0037366761 scopus 로고    scopus 로고
    • Transthyretin Tyr69-to-Ile mutation (double-nucleotide substitution in codon 69) in a Japanese familial amyloidosis patient with cardiomyopathy and carpal tunnel syndrome
    • Takei Y, Hattori T, Yazaki M, Tokuda T, Urasawa N, Kanai S, Ikeda S. Transthyretin Tyr69-to-Ile mutation (double-nucleotide substitution in codon 69) in a Japanese familial amyloidosis patient with cardiomyopathy and carpal tunnel syndrome. Amyloid 2003;10:25-28.
    • (2003) Amyloid , vol.10 , pp. 25-28
    • Takei, Y.1    Hattori, T.2    Yazaki, M.3    Tokuda, T.4    Urasawa, N.5    Kanai, S.6    Ikeda, S.7
  • 28
    • 0028214499 scopus 로고
    • Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant
    • Murakami T, Tachibana S, Endo Y, Kawai R, Hara M, Tanase S, Ando M. Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant. Neurology 1994;44:315-318.
    • (1994) Neurology , vol.44 , pp. 315-318
    • Murakami, T.1    Tachibana, S.2    Endo, Y.3    Kawai, R.4    Hara, M.5    Tanase, S.6    Ando, M.7
  • 29
    • 0035669730 scopus 로고    scopus 로고
    • Serum transthyretin monomer in patients with familial amyloid polyneuropathy
    • Sekijima Y, Tokuda T, Kametani F, Tanaka K, Maruyama K, Ikeda S. Serum transthyretin monomer in patients with familial amyloid polyneuropathy. Amyloid 2001;8:257-262.
    • (2001) Amyloid , vol.8 , pp. 257-262
    • Sekijima, Y.1    Tokuda, T.2    Kametani, F.3    Tanaka, K.4    Maruyama, K.5    Ikeda, S.6
  • 31
    • 0021748468 scopus 로고
    • Diagnostic radioimmunoassay for familial amyloidotic polyneuropathy
    • Nakazato M, Kurihara T, Kangawa K, Matsuo H. Diagnostic radioimmunoassay for familial amyloidotic polyneuropathy. Lancet 1984;2:1274-1275.
    • (1984) Lancet , vol.2 , pp. 1274-1275
    • Nakazato, M.1    Kurihara, T.2    Kangawa, K.3    Matsuo, H.4
  • 34
    • 0030694782 scopus 로고    scopus 로고
    • The amyloidogenic potential of transthyretin variants correlates with their tendency to aggregate in solution
    • Quintas A, Saraiva MJM, Brito RMM. The amyloidogenic potential of transthyretin variants correlates with their tendency to aggregate in solution. FEBS Lett 1997;418:297-300.
    • (1997) FEBS Lett , vol.418 , pp. 297-300
    • Quintas, A.1    Saraiva, M.J.M.2    Brito, R.M.M.3
  • 36
    • 0017824077 scopus 로고
    • Structure of prealbumin: Secondary, tertiary and quaternary interactions determined by Fourier refinement at 1.8 A
    • Blake CCF, Geisow MJ, Oatley SJ, Rerat B, Rerat C. Structure of prealbumin: secondary, tertiary and quaternary interactions determined by Fourier refinement at 1.8 A. J Mol Biol 1978;121:339-356.
    • (1978) J Mol Biol , vol.121 , pp. 339-356
    • Blake, C.C.F.1    Geisow, M.J.2    Oatley, S.J.3    Rerat, B.4    Rerat, C.5
  • 37
    • 0022202960 scopus 로고
    • Demonstration of transthyretin mRNA in the brain and other extrahepatic tissues in the rat
    • Soprano DR, Herbert J, Soprano KJ, Schon EA, Goodman DS. Demonstration of transthyretin mRNA in the brain and other extrahepatic tissues in the rat. J Biol Chem 1985;260:11793-11798.
    • (1985) J Biol Chem , vol.260 , pp. 11793-11798
    • Soprano, D.R.1    Herbert, J.2    Soprano, K.J.3    Schon, E.A.4    Goodman, D.S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.