Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance

@article{Esposito2002StructuralAF,
  title={Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance},
  author={G. Esposito and L. Vitagliano and R. Santamaria and Antonietta Viola and A. Zagari and F. Salvatore},
  journal={FEBS Letters},
  year={2002},
  volume={531}
}
Hereditary fructose intolerance (HFI) is a recessively inherited disorder of carbohydrate metabolism caused by impaired function of human liver aldolase (B isoform). 25 enzyme‐impairing mutations have been identified in the aldolase B gene. We have studied the HFI‐related mutant recombinant proteins W147R, A149P, A174D, L256P, N334K and Δ6ex6 in relation to aldolase B function and structure using kinetic assays and molecular graphics analysis. We found that these mutations affect aldolase B… Expand
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