Now showing items 1-2 of 2

    • Impaired DNA repair and genomic stability in hereditary tyrosinemia type 1 

      Van Dyk, E.; Pretorius, P.J. (Elsevier, 2012)
      The autosomal recessive disorder, hereditary tyrosinemia type 1 (HT1), is caused by a defective fumarylacetoacetate hydrolase enzyme. Consequently intermediate metabolites such as fumarylacetoacetate, succinylacetone and ...
    • OXPHOS gene expression and control in mitochondrial disorders 

      Reinecke, Fimmie; Van der Westhuizen, Francois H.; Smeitink, Jan A.M. (Elsevier, 2009)
      The cellular consequences of deficiencies of the mitochondrial OXPHOS system include a variety of direct and secondary changes in metabolite homeostasis, such as ROS, Ca2+, ADP/ATP, and NAD/NADH. The adaptive responses to ...