Loading...
  • gene expression
  • Previous studies have suggested that the expanded GAA repeat leads to the formation of complexes that damage FXN gene expression, or protein production, and lower protein levels. (friedreichsataxianews.com)
  • Because previous studies showed that making frataxin in excess in cell models may cause oxidative stress and cell death, the careful regulation of gene expression with ss-siRNAs may be important, the researchers noted. (friedreichsataxianews.com)
  • Further, these mice should provide a useful resource for the study of human FXN gene expression, frataxin function, the evaluation of pharmacologic inducers of FXN expression in a whole-animal model and provide a useful source of cells for stem cell transplantation studies. (duhnnae.com)
  • onset
  • While the number of repeats of the coding (CAG)n expansions is correlated with the age at onset, there are no appropriate models that include both affected and preclinical carriers allowing for the prediction of age at onset. (jove.com)
  • In compound heterozygotes, expression of partially functional mutant frataxin delays age of onset and reduces diabetes mellitus, compared to those with no frataxin expression from the non-expanded allele. (nih.gov)
  • These disorders are usually associated with anticipation where age of onset decreases and extended repeats tend to increase in length from generation to generation [ 1 ]. (omicsonline.org)
  • levels
  • therefore, inhibition of the frataxin E3 ligase may represent a strategy to achieve an increase in frataxin levels. (pubmedcentralcanada.ca)
  • Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin. (nih.gov)
  • disorders
  • Moreover, mechanism of these disorders differs depending on the region of trinucleotide expansion (coding vs. non-coding regions). (omicsonline.org)
  • i) those with moderate CAG expansions that result in a polyglutamine stretch in gene sequence, hence termed as 'Polyglutamine disorders' like Huntington's disease (HD) and Spinocerebellar ataxia (SCA) type 1, 2, 3, 6 and (ii) those with very long expansions (usually non-CAG repeats) known as 'Non-Polyglutamine disorders' like Freidreich's ataxia (FA) and Myotonic Dystrophy (MD) [ 2 , 3 ]. (omicsonline.org)
  • iron
  • The function of frataxin is not entirely clear, but it seems to be involved in assembly of iron-sulfur clusters. (wikipedia.org)