Triosephosphate isomerase deficiency: consequences of an inherited mutation at mRNA, protein and metabolic levels.

@article{Olh2005TriosephosphateID,
  title={Triosephosphate isomerase deficiency: consequences of an inherited mutation at mRNA, protein and metabolic levels.},
  author={Judit Ol{\'a}h and Ferenc Orosz and L{\'a}szl{\'o} G Pusk{\'a}s and Laszlo Hackler and Margit Hor{\'a}nyi and L{\'a}szl{\'o} Polg{\'a}r and Susan Holl{\'a}n and Judit Ov{\'a}di},
  journal={The Biochemical journal},
  year={2005},
  volume={392 Pt 3},
  pages={675-83}
}
Triosephosphate isomerase (TPI) deficiency is a unique glycolytic enzymopathy coupled with neurodegeneration. Two Hungarian compound heterozygote brothers inherited the same TPI mutations (F240L and E145Stop), but only the younger one suffers from neurodegeneration. In the present study, we determined the kinetic parameters of key glycolytic enzymes including the mutant TPI for rational modelling of erythrocyte glycolysis. We found that a low TPI activity in the mutant cells (lower than… CONTINUE READING
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