Dulmini P. Barupala, Stephen P. Dzul, Pamela Jo Riggs-Gelasco, Timothy L. Stemmler, Archives of Biochemistry and Biophysics, Available online 16 January 2016, ISSN 0003-9861, doi:10.1016/j.abb.2016.01.010.
With an incidence of 1 in 50,000172,173, and a carrier prevalence of 1 in 100174, Friedreich’s ataxia (FRDA) is by far the most prevalent disease linked to defective Fe-S cluster formation.
FRDA is an autosomal recessive genetic disease caused by a GAA-trinucleotide repeat expansion in an intron of the frataxin gene, a protein involved in the ISC pathway.
Wednesday, January 27, 2016
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