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

• Main Authors: Jill Sergesketter Napierala (Author), Yanjie Li (Author), Yue Lu (Author), Kevin Lin (Author), Lauren A. Hauser (Author), David R. Lynch (Author), Marek Napierala (Author)
• Formato: Libro
• Publicado: The Company of Biologists, 2017-11-01T00:00:00Z.
• Subjects: article
• Acceso en liña: Connect to this object online.

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...