Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers

Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease usually caused by large homozygous expansions of GAA repeat sequences in intron 1 of the frataxin (FXN) gene. FRDA patients homozygous for GAA expansions have low FXN mRNA and protein levels when compared with hetero...

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Detalles Bibliográficos
Autores principales: Napierala, Jill Sergesketter, Li, Yanjie, Lu, Yue, Lin, Kevin, Hauser, Lauren A., Lynch, David R., Napierala, Marek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2017
Materias:
Resource Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5719256/
https://www.ncbi.nlm.nih.gov/pubmed/29125828
http://dx.doi.org/10.1242/dmm.030536

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