Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA⋅TTC Triplet Repeat Instability

The inherited neurodegenerative disease Friedreich's ataxia (FRDA) is caused by GAA⋅TTC triplet repeat hyperexpansions within the first intron of the FXN gene, encoding the mitochondrial protein frataxin. Long GAA⋅TTC repeats cause heterochromatin-mediated gene silencing and loss of frataxin in...

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Veröffentlicht in:	Cell stem cell 2010-11, Vol.7 (5), p.631-637
Hauptverfasser:	Ku, Sherman, Soragni, Elisabetta, Campau, Erica, Thomas, Elizabeth A., Altun, Gulsah, Laurent, Louise C., Loring, Jeanne F., Napierala, Marek, Gottesfeld, Joel M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Cells, Cultured DNA Repeat Expansion Frataxin Friedreich Ataxia - genetics Humans Induced Pluripotent Stem Cells Iron-Binding Proteins - genetics Microsatellite Instability Trinucleotide Repeat Expansion - genetics
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