הפניות לספרות

References

  1. Leibou L, Frand J, Sadeh M, et al. Clinical and genetic findings in eight Israeli patients with Transthyretin-associated familial amyloid polyneuropathy. Isr Med Assoc J. 2012;14:662–665.
  2. Kanda Y, Goodman DS, Canfield RE, Morgan FJ. The Amino Acid Sequence of Human Plasma Prealbumin. J Biol Chem [online serial]. 1974;249:6796–6806. Accessed at: http://www.jbc.org/content/249/21/6796.full.pdf.
  3. Blake CCF, Geisow MJ, Oatley SJ, Rérat B, Rérat C. Structure of prealbumin: Secondary, tertiary and quaternary interactions determined by Fourier refinement at 1.8 Å. J Mol Biol. 1978;121:339–356.
  4. Purkey HE, Dorrell MI, Kelly JW. Evaluating the binding selectivity of transthyretin amyloid fibril inhibitors in blood plasma. Proc Natl Acad Sci [online serial]. 2001;98:5566–5571. Accessed at: http://www.pnas.org/cgi/doi/10.1073/pnas.091431798.
  5. Manuscript A. NIH Public Access. Source. 2009;47:6969–6984.
  6. Mendes Sousa MM, Cardoso I, Fernandes R, Guimarães A, João Saraiva M. Deposition of transthyretin in early stages of familial amyloidotic polyneuropathy: Evidence for toxicity of nonfibrillar aggregates. Am J Pathol. 2001;159:1993–2000.
  7. Reixach N, Deechongkit S, Jiang X, Kelly JW, Buxbaum JN. Tissue damage in the amyloidoses: Transthyretinmonomers and nonnative oligomers are the majorcytotoxic species in tissue culture. Proc Natl Acad Sci USA [online serial]. 2004;101:2817–2822. Accessed at: http://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=14981241&retmode=ref&cmd=prlinks%5Cnpapers3://publication/doi/10.1073/pnas.0400062101.
  8. Westermark P, Sletten K, Johansson B, Cornwell GG. Fibril in senile systemic amyloidosis is derived from normal transthyretin. Proc Natl Acad Sci [online serial]. 1990;87:2843–2845. Accessed at: http://www.pnas.org/cgi/doi/10.1073/pnas.87.7.2843.
  9. Cornwell GG, Sletten K, Johansson B, Westermark P. Evidence that the amyloid fibril protein in senile systemic amyloidosis is derived from normal prealbumin. Biochem Biophys Res Commun. 1988;154:648–653.
  10. Andrade C. A peculiar form of peripheral neuropathy: Familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain. 1952;75:408–427.
  11. Johns Hopkins University, Baltimore M. TRANSTHYRETIN; TTR [online]. Online Mendelian Inherit. Man, Omi. Accessed at: http://omim.org/entry/176300.
  12. Ando Y, Coelho T, Berk JL, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians . Orphanet J Rare Dis [online serial]. 2013;8:31. Accessed at: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=3584981&tool=pmcentrez&rendertype=abstract.
  13. Hagen GA, Elliott WJ. Transport of thyroid hormones in serum and cerebrospinal fluid. J Clin Endocrinol Metab [online serial]. 1973;37:415–422. Accessed at: http://www.ncbi.nlm.nih.gov/pubmed/4206491.
  14. Herbert J, Wilcox JN, Pham KT, et al. Transthyretin: a choroid plexus-specific transport protein in human brain. Neurology [online serial]. 1986;36:900–911. Accessed at: http://www.ncbi.nlm.nih.gov/pubmed/3714052.
  15. Hanewinckel R, Drenthen J, van Oijen M, Hofman A, van Doorn PA, Ikram MA. Prevalence of polyneuropathy in the general middle-aged and elderly population. Neurology [online serial]. Epub 2016 Sep 28. Accessed at: http://www.ncbi.nlm.nih.gov/pubmed/27683845. Accessed October 10, 2016.
  16. Parman Y, Adams D, Obici L, et al. Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP. Curr Opin Neurol [online serial]. 2016;29 Suppl 1:S3–S13. Accessed at: http://www.ncbi.nlm.nih.gov/pubmed/26734951.
  17. Ebenezer GJ, Liu Y, Judge DP, et al. Cutaneous Nerve Biomarkers in Transthyretin Familial Amyloid Polyneuropathy. Ann Neurol [online serial]. Epub 2017 Jun 9. Accessed at: http://doi.wiley.com/10.1002/ana.24972. Accessed June 17, 2017.
  18. Bulawa CE, Connelly S, DeVit M, et al. Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade. Proc Natl Acad Sci [online serial]. 2012;109:9629–9634. Accessed at: http://www.pnas.org/cgi/doi/10.1073/pnas.1121005109.
  19. Keohane D, Schwartz J, Gundapaneni B, Stewart M, Amass L. Tafamidis delays disease progression in patients with early stage transthyretin familial amyloid polyneuropathy: additional supportive analyses from the pivotal trial. Amyloid [online serial]. 2017;24:30–36. Accessed at: https://www.tandfonline.com/doi/full/10.1080/13506129.2017.1301419. Accessed June 10, 2017.
  20. Barroso FA, Judge DP, Ebede B, et al. Long-term safety and efficacy of tafamidis for the treatment of hereditary transthyretin amyloid polyneuropathy: results up to 6 years. Amyloid. 2017;24:194–204.
  21. Coelho T, Adams D, Silva A, et al. Safety and Efficacy of RNAi Therapy for Transthyretin Amyloidosis. N Engl J Med [online serial]. 2013;369:819–829. Accessed at: http://www.nejm.org/doi/10.1056/NEJMoa1208760.
  22. Suhr OB, Coelho T, Buades J, et al. Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study. Orphanet J Rare Dis [online serial]. Orphanet Journal of Rare Diseases; 2015;10:109. Accessed at: http://dx.doi.org/10.1186/s13023-015-0326-6.
  23. APOLLO. Patisiran, an Investigational RNAi Therapeutic for the Treatment of Hereditary ATTR Amyloidosis with Polyneuropathy: Results from the Phase 3 APOLLO Study. Epub 2017.:1–29. Accessed at: http://n.neurology.org/content/88/16_Supplement/S27.004.abstract.
  24. Benson MD, Dasgupta NR, Rissing SM, Smith J, Feigenbaum H. Safety and efficacy of a TTR specific antisense oligonucleotide in patients with transthyretin amyloid cardiomyopathy. Amyloid [online serial]. Informa UK Ltd.; 2017;24:219–225. Accessed at: https://doi.org/10.1080/13506129.2017.1374946.
  25. Study N-T. Ionis Presents New Data from NEURO-TTR Study at European ATTR Amyloidosis Meeting Significant benefit in quality of life and disease severity endpoints observed in inotersen-treated patients compared to placebo-treated patients Consistent and significant . Epub 2017.