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Stalled DNA replication forks at the endogenous GAA repeats drive repeat expansion in Friedreich's ataxia cells

Friedreich's ataxia (FRDA) is caused by the expansion of GAA repeats located in the Frataxin (FXN) gene. The GAA repeats continue to expand in FRDA patients, aggravating symptoms and contributing to disease progression. The mechanism leading to repeats expansion and decreased FXN transcription...

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Publicat a:Cell Rep
Autors principals: Gerhardt, Jeannine, Bhalla, Angela, Butler, Jill Sergesketter, Puckett, James, Dervan, Peter B., Rosenwaks, Zev, Napierala, Marek
Format: Artigo
Idioma:Inglês
Publicat: 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5028224/
https://ncbi.nlm.nih.gov/pubmed/27425605
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.celrep.2016.06.075
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