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Premature transcription termination at the expanded GAA repeats and aberrant alternative polyadenylation contributes to the Frataxin transcriptional deficit in Friedreich’s ataxia

Frataxin deficiency in Friedreich’s ataxia results from transcriptional downregulation of the FXN gene caused by expansion of the intronic trinucleotide guanine-adenine-adenine (GAA) repeats. We used multiple transcriptomic approaches to determine the molecular mechanism of transcription inhibition...

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Detalles Bibliográficos
Autores principales:	Li, Yanjie, Li, Jixue, Wang, Jun, Zhang, Siyuan, Giles, Keith, Prakash, Thazha P, Rigo, Frank, Napierala, Jill S, Napierala, Marek
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2022
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9558844/ https://www.ncbi.nlm.nih.gov/pubmed/35708503 http://dx.doi.org/10.1093/hmg/ddac134

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