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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Detalhes bibliográficos
Publicado no:Cell Rep
Main Authors: Gerhardt, Jeannine, Bhalla, Angela, Butler, Jill Sergesketter, Puckett, James, Dervan, Peter B., Rosenwaks, Zev, Napierala, Marek
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha: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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