Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich’s ataxia

作者: A. Hick , M. Wattenhofer-Donze , S. Chintawar , P. Tropel , J. P. Simard

DOI: 10.1242/DMM.010900

关键词:

摘要: … (F) Electron microscopy analysis of FRDA iPSCs neurons at 43 days shows no ultrastructural abnormality. Fb is a higher magnification image of the boxed area shown in Fa; n, nucleus; …

参考文章(51)
Massimo Pandolfo, Friedreich ataxia: Detection of GAA repeat expansions and frataxin point mutations. Methods in molecular medicine. ,vol. 126, pp. 197- 216 ,(2006) , 10.1385/1-59745-088-X:197
Hélène Puccio, Delphine Simon, Mireille Cossée, Paola Criqui-Filipe, Francesco Tiziano, Judith Melki, Colette Hindelang, Robert Matyas, Pierre Rustin, Michel Koenig, Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nature Genetics. ,vol. 27, pp. 181- 186 ,(2001) , 10.1038/84818
Sujoy K Dhara, Steven L Stice, Neural differentiation of human embryonic stem cells. Methods of Molecular Biology. ,vol. 438, pp. 19- 30 ,(2008) , 10.1007/978-1-59745-133-8_3
Blanche Guillon, Anne-Laure Bulteau, Marie Wattenhofer-Donzé, Stéphane Schmucker, Bertrand Friguet, Hélène Puccio, Jean-Claude Drapier, Cécile Bouton, Frataxin deficiency causes upregulation of mitochondrial Lon and ClpP proteases and severe loss of mitochondrial Fe–S proteins FEBS Journal. ,vol. 276, pp. 1036- 1047 ,(2009) , 10.1111/J.1742-4658.2008.06847.X
Eric C. Deutsch, Avni B. Santani, Susan L. Perlman, Jennifer M. Farmer, Catherine A. Stolle, Michael F. Marusich, David R. Lynch, A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia. Molecular Genetics and Metabolism. ,vol. 101, pp. 238- 245 ,(2010) , 10.1016/J.YMGME.2010.07.001
Mary A. Selak, Elise Lyver, Elizabeth Micklow, Eric C. Deutsch, Özlem Önder, Nur Selamoglu, Claire Yager, Simon Knight, Martin Carroll, Fevzi Daldal, Andrew Dancis, David R. Lynch, Jean-Emmanuel Sarry, Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function. Mitochondrion. ,vol. 11, pp. 342- 350 ,(2011) , 10.1016/J.MITO.2010.12.003
Anasheh Halabi, Scott Ditch, Jeffrey Wang, Ed Grabczyk, DNA Mismatch Repair Complex MutSβ Promotes GAA·TTC Repeat Expansion in Human Cells Journal of Biological Chemistry. ,vol. 287, pp. 29958- 29967 ,(2012) , 10.1074/JBC.M112.356758
S. Chintawar, R. Hourez, A. Ravella, D. Gall, D. Orduz, M. Rai, D. P. Bishop, S. Geuna, S. N. Schiffmann, M. Pandolfo, Grafting Neural Precursor Cells Promotes Functional Recovery in an SCA1 Mouse Model The Journal of Neuroscience. ,vol. 29, pp. 13126- 13135 ,(2009) , 10.1523/JNEUROSCI.0647-09.2009
Sherman Ku, Elisabetta Soragni, Erica Campau, Elizabeth A. Thomas, Gulsah Altun, Louise C. Laurent, Jeanne F. Loring, Marek Napierala, Joel M. Gottesfeld, Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA⋅TTC Triplet Repeat Instability Cell Stem Cell. ,vol. 7, pp. 631- 637 ,(2010) , 10.1016/J.STEM.2010.09.014
Carlos J Miranda, Manuela M Santos, Keiichi Ohshima, Julie Smith, Liangtao Li, Michaeline Bunting, Mireille Cossée, Michael Koenig, Jorge Sequeiros, Jerry Kaplan, Massimo Pandolfo, None, Frataxin knockin mouse. FEBS Letters. ,vol. 512, pp. 291- 297 ,(2002) , 10.1016/S0014-5793(02)02251-2