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

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis
Richard M GiadoneGeorge J Murphy

Abstract

Hereditary transthyretin amyloidosis (ATTR amyloidosis) is an autosomal dominant protein-folding disorder caused by over 100 distinct mutations in the transthyretin (TTR) gene. In ATTR amyloidosis, protein secreted from the liver aggregates and forms amyloid fibrils in downstream target organs, chiefly the heart and peripheral nervous system. Few animal models of ATTR amyloidosis exist and none recapitulate the multisystem complexity and clinical variability associated with disease pathogenesis in patients. Induced pluripotent stem cells (iPSCs) stand to revolutionize the way we study human development, model disease, and perhaps treat patients afflicted with highly variable multisystem diseases such as ATTR amyloidosis. Here, we fully characterize six representative iPSC lines from a library of previously reprogrammed iPSC lines and reprogrammable blood samples derived from ATTR amyloidosis patients. This unique resource, described herein, can be harnessed to study diverse disorder.

References

Aug 3, 2004·Nature Reviews. Drug Discovery·Ismail Kola, John Landis
Nov 7, 2006·Nature Biotechnology·Valerie Gouon-EvansGordon Keller
Oct 18, 2008·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Urban HellmanViolaine Planté-Bordeneuve
Dec 20, 2008·Stem Cells·Cesar A SommerGustavo Mostoslavsky
Dec 23, 2008·Nature·Allison D EbertClive N Svendsen
Jan 18, 2011·Nature·Ilanit ItzhakiLior Gepstein
Aug 3, 2012·Science Translational Medicine·Naohiro EgawaHaruhisa Inoue
Aug 14, 2012·Heart·Jason N DunguPhilip N Hawkins
Nov 15, 2012·Journal of Visualized Experiments : JoVE·Andreia Gianotti SommerGustavo Mostoslavsky
Mar 5, 2013·Annual Review of Biochemistry·Luis M Blancas-Mejía, Marina Ramirez-Alvarado
Dec 26, 2013·JAMA : the Journal of the American Medical Association·John L BerkUNKNOWN Diflunisal Trial Consortium
Oct 15, 2014·Journal of Cellular and Molecular Medicine·Andrea HenzeAysel Ozpinar
Apr 2, 2016·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·James S ButlerTracy S Zimmermann
Jun 15, 2017·Circulation. Heart Failure·Mathew S MaurerUNKNOWN ATTR-ACT Study Investigators

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cardiac Amyloidosis

Cardiac amyloidosis is a myocardial disease characterized by extracellular amyloid infiltration throughout the heart. Discover the latest research on cardiac amyloidosis here.