Abstract Friedreich’s ataxia (FRDA) is an inherited disorder caused by depletion of frataxin (FXN), a mitochondrial protein required for iron–sulfur cluster (ISC) biogenesis. Cardiac dysfunction the main cause death. Yet pathogenesis, and, more generally, how heart adapts to FXN loss, remain poorly understood, though are expected be linked energy deficit. We modified transgenic (TG) mouse model...

Friedreich ataxia (FA) is a monogenic recessive disorder caused by the reduction of mitochondrial protein, frataxin (FXN). Despite neurological deficits place patients with FA in wheelchairs, most die from lethal cardiomyopathy their 40s. develop progressive cardiac disease characteristics similar to primary hypertrophic but more fibrosis, both diastolic and systolic dysfunction, arrhythmias. H...

Bacillus subtilis YdhG lacks sequence homology, but demonstrates structural and functional similarity to the frataxin family, supporting a general cellular role for frataxin-type proteins in cellular iron homeostasis.

In 1996, a link was identified between Friedreich's ataxia (FRDA), the most common inherited ataxia in men, and alterations in the gene encoding frataxin (FXN). Initial studies revealed that the disease is caused by a unique, most frequently biallelic, expansion of the GAA sequence in intron 1 of FXN. Since the identification of this link, there has been tremendous progress in understanding fra...

Trinucleotide repeat expansion is the genetic basis for a sizeable group of inherited neurological and neuromuscular disorders. Friedreich ataxia (FRDA) is a relentlessly progressive neurodegenerative disorder caused by GAA.TTC repeat expansion in the first intron of the FXN gene. The expanded repeat reduces FXN mRNA expression and the length of the repeat tract is proportional to disease sever...

Friedreich's ataxia is a disease caused by a decrease in the levels of expression or loss of functionality of the mitochondrial protein frataxin (FXN). The development of an active and stable recombinant variant of FXN is important for protein replacement therapy. Although valuable data about the mature form FXN81-210 has been collected, not enough information is available about the conformatio...