Article
GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.
Genomics - 1 Nov 2006
Al-Mahdawi Sahar, Pinto Ricardo Mouro, Varshney Dhaval, Lawrence Lorraine, Lowrie Margaret B, Hughes Sian, Webster Zoe, Blake Julian, Cooper J Mark, King Rosalind, Pook Mark A
Abstract excerpt
Friedreich ataxia (FRDA) is a neurodegenerative disorder caused by an unstable GAA repeat expansion mutation within intron 1 of the FXN gene. However, the origins of the GAA repeat expansion, its unstable dynamics within different cells and tissues, and its effects on frataxin expression are not...
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