Publication Cover
Amyloid
The Journal of Protein Folding Disorders
Volume 14, 2007 - Issue 2
55
Views
5
CrossRef citations to date
0
Altmetric
Original

Familial amyloid polyneuropathy associated with TTRSer50Arg mutation in two Iberian families presenting a novel single base change in the mutant gene

, , , , &
Pages 147-152 | Published online: 06 Jul 2009

References

  • Connors L H, Lim A M, Prokaeva T, Roskens V A, Costello C E. Tabulation of human transthyretin (TTR) variants, 2003. Amyloid: J Protein Folding Disord 2003; 10: 160–184
  • Ueno S, Uemichi T, Takahashi N, Soga F, Yorifugi S, Taruj S. Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu 42 to Gly) and transthyretin (Ser 50 to Arg). Biochem Biophys Res Commun 1990; 169: 1117–1121
  • Takahashi N, Ueno S, Uemichi T, Fujimura H, Yorifuji S, Tarui S. Amyloid polyneuropathy with transthyretin Arg 50 in a Japanese case from Osaka. J Neurol Sci 1992; 112: 58–64
  • Reilly M M, Adams D, Booth D R, Davis M B, Said G, Laubriat-Bianchin M, Pepys M B, Thomas P K, Harding A E. Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy. Brain 1995; 118: 849–856
  • Singer R, Schnabel A, Strasser R H. Restrictive cardiomyopathy in familial amyloidosis TTRArg50. Circulation 2003; 107: 643–644
  • Palha J A, Moreira P, Oloffson A, Lundgren E, Saraiva M J. Antibody recognition of amyloidogenic transthyretin variants in serum of patients with familial amyloidotic polyneuropathy. J Mol Med 2001; 78: 703–707
  • Torres M F, Almeida M R, Saraiva M JM. TTR exon scanning in peripheral neuropathies. Neuromuscul Disord 1995; 5: 187–191
  • Henzel W J, Billeci T M, Stults J T, Wond S C, Grimley C, Watanabe C. Identifying proteins from two-dimensional gels by molecular mass searching of peptide fragments in protein sequence databases. Proc Natl Acad Sci USA 1993; 90: 5011–5015
  • Sousa A. A variabilidade fenotípica da polineuropatia amiloidótica familiar: um estudo de genética quantitativa em Portugal e na Suecia. University of Porto, Doctoral Thesis. 1995

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.