• gene expression
  • 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
  • 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)
  • Huntington's
  • 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)
  • 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)
  • iron
  • The function of frataxin is not entirely clear, but it seems to be involved in assembly of iron-sulfur clusters. (wikipedia.org)