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Volumn 50, Issue 9, 2004, Pages 1544-1552

Identification of transthyretin variants by sequential proteomic and genomic analysis

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PREALBUMIN;

EID: 4344654840     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2004.033266     Document Type: Article
Times cited : (52)

References (31)
  • 1
    • 0001999309 scopus 로고
    • Amyloidosis
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill, The 8th ed. (2000) is also available
    • Benson M. Amyloidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease, 7th ed. New York: McGraw-Hill, 1995:4159-91. [The 8th ed. (2000) is also available.]
    • (1995) The Metabolic and Molecular Bases of Inherited Disease, 7th Ed. , pp. 4159-4191
    • Benson, M.1
  • 2
    • 0027970361 scopus 로고
    • Treatment of a Japanese patient with familial amyloidotic polyneuropathy with orthotopic liver transplantation
    • Ando Y, Tashima K, Tanaka Y, Nakazato M, Ericzon BG, Duraj FF, et al. Treatment of a Japanese patient with familial amyloidotic polyneuropathy with orthotopic liver transplantation. Intern Med 1994;33:730-2.
    • (1994) Intern Med , vol.33 , pp. 730-732
    • Ando, Y.1    Tashima, K.2    Tanaka, Y.3    Nakazato, M.4    Ericzon, B.G.5    Duraj, F.F.6
  • 3
    • 0029808637 scopus 로고    scopus 로고
    • Improvement in the polyneuropathy associated with familial amyloid polyneuropathy after liver transplantation
    • Bergethon PR, Sabin TD, Lewis D, Simms RW, Cohen AS, Skinner M. Improvement in the polyneuropathy associated with familial amyloid polyneuropathy after liver transplantation. Neurology 1996;47:944-51.
    • (1996) Neurology , vol.47 , pp. 944-951
    • Bergethon, P.R.1    Sabin, T.D.2    Lewis, D.3    Simms, R.W.4    Cohen, A.S.5    Skinner, M.6
  • 4
    • 0028788659 scopus 로고
    • Liver transplantation in familial amyloidotic polyneuropathy. Follow-up of the first 20 Swedish patients
    • Suhr OB, Holmgren G, Steen L, Wikstrom L, Norden G, Friman S, et al. Liver transplantation in familial amyloidotic polyneuropathy. Follow-up of the first 20 Swedish patients. Transplantation 1995; 60:933-8.
    • (1995) Transplantation , vol.60 , pp. 933-938
    • Suhr, O.B.1    Holmgren, G.2    Steen, L.3    Wikstrom, L.4    Norden, G.5    Friman, S.6
  • 7
    • 0034651822 scopus 로고    scopus 로고
    • A new diagnostic procedure to detect unknown transthyretin (TTR) mutations in familial amyloidotic polyneuropathy (FAP)
    • Yamashita T, Ando Y, Bernt Suhr O, Nakamura M, Sakashita N, Ohlsson PI, et al. A new diagnostic procedure to detect unknown transthyretin (TTR) mutations in familial amyloidotic polyneuropathy (FAP). J Neurol Sci 2000;173:154-9.
    • (2000) J Neurol Sci , vol.173 , pp. 154-159
    • Yamashita, T.1    Ando, Y.2    Bernt Suhr, O.3    Nakamura, M.4    Sakashita, N.5    Ohlsson, P.I.6
  • 8
    • 0030469351 scopus 로고    scopus 로고
    • Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies
    • Nelis E, Warner LE, Vriendt ED, Chance PF, Lupski JR, Van Broeckhoven C. Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies. Eur J Hum Genet 1996;4:329-33.
    • (1996) Eur J Hum Genet , vol.4 , pp. 329-333
    • Nelis, E.1    Warner, L.E.2    Vriendt, E.D.3    Chance, P.F.4    Lupski, J.R.5    Van Broeckhoven, C.6
  • 9
    • 0032412970 scopus 로고    scopus 로고
    • A simple screening test for variant transthyretins associated with familial transthyretin amyloidosis using isoelectric focusing
    • Connors LH, Ericsson T, Skare J, Jones LA, Lewis WD, Skinner M. A simple screening test for variant transthyretins associated with familial transthyretin amyloidosis using isoelectric focusing. Biochim Biophys Acta 1998;1407:185-92.
    • (1998) Biochim Biophys Acta , vol.1407 , pp. 185-192
    • Connors, L.H.1    Ericsson, T.2    Skare, J.3    Jones, L.A.4    Lewis, W.D.5    Skinner, M.6
  • 10
    • 0032994562 scopus 로고    scopus 로고
    • Electrically neutral microheterogeneity of human plasma transthyretin (prealbumin) detected by isoelectric focusing in urea gradients
    • Altland K, Winter P, Sauerborn MK. Electrically neutral microheterogeneity of human plasma transthyretin (prealbumin) detected by isoelectric focusing in urea gradients. Electrophoresis 1999; 20:1349-64.
    • (1999) Electrophoresis , vol.20 , pp. 1349-1364
    • Altland, K.1    Winter, P.2    Sauerborn, M.K.3
  • 11
    • 0037083967 scopus 로고    scopus 로고
    • Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping and DNA sequence analysis
    • Lim A, Prokaeva T, McComb ME, O'Connor PB, Theberge R, Connors LH, et al. Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping and DNA sequence analysis. Anal Chem 2002;74:741-51.
    • (2002) Anal Chem , vol.74 , pp. 741-751
    • Lim, A.1    Prokaeva, T.2    McComb, M.E.3    O'Connor, P.B.4    Theberge, R.5    Connors, L.H.6
  • 12
    • 0034582354 scopus 로고    scopus 로고
    • Detection of transthyretin variants using immunoprecipitation and matrix-assisted laser desorption/ionization bioreactive probes: A clinical application of mass spectrometry
    • Theberge R, Connors LH, Skinner M, Costello CE. 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 2000;11:172-5.
    • (2000) J Am Soc Mass Spectrom , vol.11 , pp. 172-175
    • Theberge, R.1    Connors, L.H.2    Skinner, M.3    Costello, C.E.4
  • 13
    • 0028167062 scopus 로고
    • Laser desorption time-of-flight mass spectrometric analysis of transferrin precipitated with antiserum: A unique simple method to identify molecular weight variants
    • Nakanishi T, Okamoto N, Tanaka K, Shimizu A. Laser desorption time-of-flight mass spectrometric analysis of transferrin precipitated with antiserum: a unique simple method to identify molecular weight variants. Biol Mass Spectrom 1994;23:230-3.
    • (1994) Biol Mass Spectrom , vol.23 , pp. 230-233
    • Nakanishi, T.1    Okamoto, N.2    Tanaka, K.3    Shimizu, A.4
  • 14
    • 0022549363 scopus 로고
    • Mass spectrometric detection of the plasma prealbumin (transthyretin) variant associated with familial amyloidotic polyneuropathy
    • Wada Y, Matsuo T, Katakuse I, Suzuki T, Azuma T, Tsujino S, et al. Mass spectrometric detection of the plasma prealbumin (transthyretin) variant associated with familial amyloidotic polyneuropathy. Biochim Biophys Acta 1986;873:316-9.
    • (1986) Biochim Biophys Acta , vol.873 , pp. 316-319
    • Wada, Y.1    Matsuo, T.2    Katakuse, I.3    Suzuki, T.4    Azuma, T.5    Tsujino, S.6
  • 16
    • 0030773778 scopus 로고    scopus 로고
    • Rapid screening for amyloid-related variant forms of transthyretin is possible by electrospray ionization mass spectrometry
    • Ranlov I, Ando Y, Ohlsson PI, Holmgren G, Ranlov PJ, Suhr OB. Rapid screening for amyloid-related variant forms of transthyretin is possible by electrospray ionization mass spectrometry. Eur J Clin Invest 1997;27:956-9.
    • (1997) Eur J Clin Invest , vol.27 , pp. 956-959
    • Ranlov, I.1    Ando, Y.2    Ohlsson, P.I.3    Holmgren, G.4    Ranlov, P.J.5    Suhr, O.B.6
  • 17
    • 0030023632 scopus 로고    scopus 로고
    • Simple detection of abnormal serum transthyretin from patients with familial amyloidotic polyneuropathy by high-performance liquid chromatography/electrospray ionization mass spectrometry using material precipitated with specific antiserum
    • Kishikawa M, Nakanishi T, Miyazaki A, Shimizu A, Nakazato M, Kangawa K, et al. Simple detection of abnormal serum transthyretin from patients with familial amyloidotic polyneuropathy by high-performance liquid chromatography/electrospray ionization mass spectrometry using material precipitated with specific antiserum. J Mass Spectrom 1996;31:112-4.
    • (1996) J Mass Spectrom , vol.31 , pp. 112-114
    • Kishikawa, M.1    Nakanishi, T.2    Miyazaki, A.3    Shimizu, A.4    Nakazato, M.5    Kangawa, K.6
  • 18
    • 0033428635 scopus 로고    scopus 로고
    • Usefulness of MALDI/TOF mass spectrometry of immuno-precipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy
    • Tachibana N, Tokuda T, Yoshida K, Taketomi T, Nakazato M, Li YF, et al. Usefulness of MALDI/TOF mass spectrometry of immuno-precipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy. Amyloid 1999;6:282-8.
    • (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
  • 19
    • 0242659289 scopus 로고    scopus 로고
    • An on-line assay for clinical detection of amyloidogenic transthyretin variants directly from serum
    • Bergen HR 3rd, Zeldenrust SR, Naylor S. An on-line assay for clinical detection of amyloidogenic transthyretin variants directly from serum. Amyloid 2003;10:190-7.
    • (2003) Amyloid , vol.10 , pp. 190-197
    • Bergen III, H.R.1    Zeldenrust, S.R.2    Naylor, S.3
  • 20
    • 0037173966 scopus 로고    scopus 로고
    • Detection and identification of protein variants and adducts in blood and tissues: An application of soft ionization mass spectrometry to clinical diagnosis
    • Shimizu A, Nakanishi T, Kishikawa M, Miyazaki A. Detection and identification of protein variants and adducts in blood and tissues: an application of soft ionization mass spectrometry to clinical diagnosis. J Chromatogr B Anal Technol Biomed Life Sci 2002; 776:15-30.
    • (2002) J Chromatogr B Anal Technol Biomed Life Sci , vol.776 , pp. 15-30
    • Shimizu, A.1    Nakanishi, T.2    Kishikawa, M.3    Miyazaki, A.4
  • 21
    • 0344069494 scopus 로고    scopus 로고
    • Unusual self-association properties of transthyretin Y114C related to familial amyloidotic polyneuropathy: Effects on detection and quantification
    • Ando Y, Almeida M, Ohlsson PI, Ando E, Negi A, Suhr O, et al. Unusual self-association properties of transthyretin Y114C related to familial amyloidotic polyneuropathy: effects on detection and quantification. Biochem Biophys Res Commun 1999;261: 264-9.
    • (1999) Biochem Biophys Res Commun , vol.261 , pp. 264-269
    • Ando, Y.1    Almeida, M.2    Ohlsson, P.I.3    Ando, E.4    Negi, A.5    Suhr, O.6
  • 22
    • 4344693152 scopus 로고    scopus 로고
    • Detection of genetic variants of transthyretin by liquid chromatography-dual electrospray ionization Fourier-transform ion-cyclotron-resonance mass spectrometry
    • Nepomuceno AI, Mason CJ, Muddiman DC, Bergen HR 3rd, Zeldenrust SR. Detection of genetic variants of transthyretin by liquid chromatography-dual electrospray ionization Fourier-transform ion-cyclotron-resonance mass spectrometry. Clin Chem 2004;50:1535-43.
    • (2004) Clin Chem , vol.50 , pp. 1535-1543
    • Nepomuceno, A.I.1    Mason, C.J.2    Muddiman, D.C.3    Bergen III, H.R.4    Zeldenrust, S.R.5
  • 23
    • 0033567060 scopus 로고    scopus 로고
    • A comparison between the sulfhydryl reductants tris(2-carboxyethyl) phosphine and dithiothreitol for use in protein biochemistry
    • Getz EB, Xiao M, Chakrabarty T, Cooke R, Selvin PR. A comparison between the sulfhydryl reductants tris(2-carboxyethyl)phosphine and dithiothreitol for use in protein biochemistry. Anal Biochem 1999;273:73-80.
    • (1999) Anal Biochem , vol.273 , pp. 73-80
    • Getz, E.B.1    Xiao, M.2    Chakrabarty, T.3    Cooke, R.4    Selvin, P.R.5
  • 24
    • 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?
    • Hammarstrom P, Sekijima Y, White JT, Wiseman RL, Lim A, Costello CE, et al. D18G transthyretin is monomeric, aggregation prone, and not detectable in plasma and cerebrospinal fluid: a prescription for central nervous system amyloidosis? Biochemistry 2003;42:6656-63.
    • (2003) Biochemistry , vol.42 , pp. 6656-6663
    • Hammarstrom, P.1    Sekijima, Y.2    White, J.T.3    Wiseman, R.L.4    Lim, A.5    Costello, C.E.6
  • 26
    • 0041341882 scopus 로고    scopus 로고
    • Identification of S-sulfonation and S-thiolation of a novel transthyretin Phe3Cys variant from a patient diagnosed with familial transthyretin amyloidosis
    • Lim A, Prokaeva T, McComb ME, Connors LH, Skinner M, Costello CE. Identification of S-sulfonation and S-thiolation of a novel transthyretin Phe3Cys variant from a patient diagnosed with familial transthyretin amyloidosis. Protein Sci 2003;12:1775-85.
    • (2003) Protein Sci , vol.12 , pp. 1775-1785
    • Lim, A.1    Prokaeva, T.2    McComb, M.E.3    Connors, L.H.4    Skinner, M.5    Costello, C.E.6
  • 27
    • 0033821533 scopus 로고    scopus 로고
    • 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
    • Bergquist J, Andersen O, Westman A. 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 2000;46:1293-300.
    • (2000) Clin Chem , vol.46 , pp. 1293-1300
    • Bergquist, J.1    Andersen, O.2    Westman, A.3
  • 28
    • 0033556212 scopus 로고    scopus 로고
    • Characterization of transthyretin mutants from serum using immunoprecipitation, HPLC/electrospray ionization and matrix-assisted laser desorption/ionization mass spectrometry
    • Theberge R, Connors L, Skinner M, Skare J, Costello CE. Characterization of transthyretin mutants from serum using immunoprecipitation, HPLC/electrospray ionization and matrix-assisted laser desorption/ionization mass spectrometry. Anal Chem 1999;71: 452-9.
    • (1999) Anal Chem , vol.71 , pp. 452-459
    • Theberge, R.1    Connors, L.2    Skinner, M.3    Skare, J.4    Costello, C.E.5
  • 29
    • 0023489743 scopus 로고
    • The prevalence of isolated atrial amyloid
    • Steiner I. The prevalence of isolated atrial amyloid. J Pathol 1987;153:395-8.
    • (1987) J Pathol , vol.153 , pp. 395-398
    • Steiner, I.1
  • 31
    • 0020519870 scopus 로고
    • Frequency and distribution of senile cardiovascular amyloid. A clinicopathologic correlation
    • Cornwell GG 3rd, Murdoch WL, Kyle RA, Westermark P, Pitkanen P. Frequency and distribution of senile cardiovascular amyloid. A clinicopathologic correlation. Am J Med 1983;75:618-23.
    • (1983) Am J Med , vol.75 , pp. 618-623
    • Cornwell III, G.G.1    Murdoch, W.L.2    Kyle, R.A.3    Westermark, P.4    Pitkanen, P.5


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