Article
Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia.
Discovery medicine - 1 Jan 2014
Evans-Galea Marguerite V, Lockhart Paul J, Galea Charles A, Hannan Anthony J, Delatycki Martin B
Abstract excerpt
Friedreich ataxia (FRDA) is a devastating neurodegenerative disease caused by mutations in the frataxin gene (FXN). Frataxin is an essential protein which localizes to the mitochondria and is required for the synthesis of iron-sulfur clusters and heme. Most individuals with FRDA are homozygous for trinucleotide GAA.TTC repeat expansions in intron 1 of FXN. The instability of these GAA.TTC repeats, the formation...
Topics
- Alleles
- Friedreich Ataxia
- Humans
- Iron-Binding Proteins
- Trinucleotide Repeat Expansion
- Frataxin