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The tetraplex (CGG)(n) destabilizing proteins hnRNP A2 and CBF-A enhance the in vivo translation of fragile X premutation mRNA

Expansion of a (CGG)(n) sequence in the 5′-UTR of the FMR1 gene to >200–2000 repeats abolishes its transcription and initiates fragile X syndrome (FXS). By contrast, levels of FMR1 mRNA are 5–10-fold higher in FXS premutation carriers of >55–200 repeats than in normal subjects. Lack of a corre...

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Detalles Bibliográficos
Autores principales: Khateb, Samer, Weisman-Shomer, Pnina, Hershco-Shani, Inbal, Ludwig, Anna L., Fry, Michael
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2034458/
https://www.ncbi.nlm.nih.gov/pubmed/17716999
http://dx.doi.org/10.1093/nar/gkm636