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 hyper-expansions within the first intron of the FXN gene, encoding the mitochondrial protein frataxin. Long GAA•TTC repeats causes heterochromatin-mediated gene silencing and loss of frataxin in af...

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Détails bibliographiques
Auteurs principaux: Ku, Sherman, Soragni, Elisabetta, Campau, Erica, Thomas, Elizabeth A., Altun, Gulsah, Laurent, Louise C., Loring, Jeanne F., Napierala, Marek, Joel, M.Gottesfeld
Format: Artigo
Langue:Inglês
Publié: 2010
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987635/
https://ncbi.nlm.nih.gov/pubmed/21040903
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.stem.2010.09.014
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