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Amyloid
The Journal of Protein Folding Disorders
Volume 25, 2018 - Issue 3
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Original Article

A library of ATTR amyloidosis patient-specific induced pluripotent stem cells for disease modelling and in vitro testing of novel therapeutics

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Pages 148-155 | Received 23 Mar 2018, Accepted 12 Jun 2018, Published online: 21 Jul 2018

References

  • Blancas-Mejia LM, Ramirez-Alvarado M. Systemic amyloidoses. Annu Rev Biochem. 2013;82:745–774.
  • Berk JL, Suhr OB, Obici L, et al. Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. JAMA. 2013;310:2658–2667.
  • Ando Y, Sekijima Y, Obayashi K, et al. Effects of tafamidis treatment on transthyretin (TTR) stabilization, efficacy, and safety in Japanese patients with familial amyloid polyneuropathy (TTR-FAP) with Val30Met and non-Val30Met: a phase III, open-label study. J Neurol Sci. 2016;362:266–271.
  • Maurer MS, Elliott P, Merlini G, et al. Design and rationale of the phase 3 ATTR-ACT clinical trial (Tafamidis in Transthyretin Cardiomyopathy Clinical Trial). Circ Heart Fail. 2017;10. DOI:10.1161/CIRCHEARTFAILURE.116.003815
  • Butler JS, Chan A, Costelha S, et al. Preclinical evaluation of RNAi as a treatment for transthyretin-mediated amyloidosis. Amyloid. 2016;23:109–118.
  • Lashuel HA, Wurth C, Woo L, et al. The most pathogenic transthyretin variant, L55P, forms amyloid fibrils under acidic conditions and protofilaments under physiological conditions. Biochemistry. 1999;38:13560–13573.
  • Dungu JN, Anderson LJ, Whelan CJ, et al. Cardiac transthyretin amyloidosis. Heart. 2012;98:1546–1554.
  • Hellman U, Alarcon F, Lundgren HE, et al. Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population. Amyloid. 2008;15:181–186.
  • 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. 2016;29:3–13.
  • Buxbaum JN. Animal models of human amyloidoses: are transgenic mice worth the time and trouble? FEBS Lett. 2009;583:2663–2673.
  • Henze A, Homann T, Serteser M, et al. Post-translational modifications of transthyretin affect the triiodonine-binding potential. J Cell Mol Med. 2015;19:359–370.
  • Vilà-rico M, Colomé-calls N, Martín-castel L, et al. Quantitative analysis of post-translational modifications in human serum transthyretin associated with familial amyloidotic polyneuropathy by targeted LC-MS and intact protein MS. J Proteomics. 2015;127:234–246.
  • Leung A, Nah SK, Reid W, et al. Induced pluripotent stem cell modeling of multisystemic, hereditary transthyretin amyloidosis. Stem Cell Rep. 2013;1:451–463.
  • Sommer CA, Stadtfeld M, Murphy GJ, et al. Induced pluripotent stem cell generation using a single lentiviral stem cell cassette. Stem Cells. 2009;27:543–549.
  • Somers A, Jean JC, Sommer CA, et al. Generation of transgene-free lung disease-specific human induced pluripotent stem cells using a single excisable lentiviral stem cell cassette. Stem Cells. 2010;28:1728–1740.
  • Sommer AG, Rozelle SS, Sullivan S, et al. Generation of human induced pluripotent stem cells from peripheral blood using the STEMCCA lentiviral vector. J Vis Exp. 2012. DOI:10.3791/4327
  • Gouon-Evans V, Boussemart L, Gadue P, et al. BMP-4 is required for hepatic specification of mouse embryonic stem cell-derived definitive endoderm. Nat Biotechnol. 2006;24:1402–1411.
  • Ebert AD, Yu J, Rose FF, et al. Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature. 2009;457:277–280.
  • Wilson AA, Ying L, Liesa M, et al. Emergence of a stage-dependent human liver disease signature with directed differentiation of alpha-1 antitrypsin-deficient iPS cells. Stem Cell Rep. 2015;4:873–885.
  • Baxter M, Withey S, Harrison S, et al. Phenotypic and functional analyses show stem cell-derived hepatocyte-like cells better mimic fetal rather than adult hepatocytes. J Hepatol. 2015;62:581–589.
  • Beauchamp RD, Sheng HM, Alam T, et al. Posttranscriptional regulation of albumin and a-fetoprotein messenger RNA by transforming growth factor-PI requires de novo RNA and protein synthesis. J Mol Endocrinol. 1992;6:1789–1796.
  • Kazmaier M, Brüning E, Ryffel GU. Post-transcriptional regulation of albumin gene expression in Xenopus liver. EMBO J. 1985;4:1261–1266.
  • Kola I, Landis J. Can the pharmaceutical industry reduce attrition rates? Nat Rev Drug Discov. 2004;3:711–715.
  • Lian Q, Chow Y, Esteban MA, et al. Future perspective of induced pluripotent stem cells for diagnosis, drug screening and treatment of human diseases. Thromb Haemost. 2010;104:39–44.
  • Chun YS, Byun K, Lee B. Induced pluripotent stem cells and personalized medicine: current progress and future perspectives. Anat Cell Biol. 2011;44:245–255.
  • Deshmukh RS, Kovacs KA, Dinnyes A. Drug discovery models and toxicity testing using embryonic and induced pluripotent stem-cell-derived cardiac and neuronal cells. Stem Cells Int. 2012;2012:379569.
  • Egawa N, Kitaoka S, Tsukita K, et al. Drug screening for ALS using patient-specific induced pluripotent stem cells. Sci Transl Med. 2012;4:145ra104.
  • Itzhaki I, Maizels L, Huber I, et al. Modelling the long QT syndrome with induced pluripotent stem cells. Nature. 2011;471:225–229.
  • Lee G, Papapetrou EP, Kim H, et al. Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs. Nature. 2009;461:402–406.
  • McNeish J, Roach M, Hambor J, et al. High-throughput screening in embryonic stem cell-derived neurons identifies potentiators of alpha-amino-3-hydroxyl-5-methyl-4-isoxazolepropionate-type glutamate receptors. J Biol Chem. 2010;285:17209–17217.