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

• Egile Nagusiak: Jill Sergesketter Napierala (Egilea), Yanjie Li (Egilea), Yue Lu (Egilea), Kevin Lin (Egilea), Lauren A. Hauser (Egilea), David R. Lynch (Egilea), Marek Napierala (Egilea)
• Formatua: Liburua
• Argitaratua: The Company of Biologists, 2017-11-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...