Triose Phosphate Isomerase Deficiency Is Caused by Altered Dimerization–Not Catalytic Inactivity–of the Mutant Enzymes

@article{Ralser2006TriosePI,
  title={Triose Phosphate Isomerase Deficiency Is Caused by Altered Dimerization–Not Catalytic Inactivity–of the Mutant Enzymes},
  author={Markus Ralser and Gino Heeren and Michael Breitenbach and Hans Lehrach and Sylvia Krobitsch},
  journal={PLoS ONE},
  year={2006},
  volume={1},
  pages={229 - 235}
}
Triosephosphate isomerase (TPI) deficiency is an autosomal recessive disorder caused by various mutations in the gene encoding the key glycolytic enzyme TPI. A drastic decrease in TPI activity and an increased level of its substrate, dihydroxyacetone phosphate, have been measured in unpurified cell extracts of affected individuals. These observations allowed concluding that the different mutations in the TPI alleles result in catalytically inactive enzymes. However, despite a high occurrence of… CONTINUE READING
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