The first stable variant of erythrocyte glucose‐phosphate isomerase associated with severe hemolytic anemia

@article{Zanella1980TheFS,
  title={The first stable variant of erythrocyte glucose‐phosphate isomerase associated with severe hemolytic anemia},
  author={A. Zanella and C. Izzo and P. Rebulla and L. Perroni and M. Mariani and G. Canestri and G. Sansone and G. Sirchia},
  journal={American Journal of Hematology},
  year={1980},
  volume={9}
}
A new variant of glucosephosphate isomerase (GPI) associated with hemolytic anemia, mental retardation, and muscular hypotonia is described. The defective enzyme showed increased affinity for fructose‐6‐phosphate (F‐6‐P), decreased affinity for glucose‐6‐phosphate (G‐6‐P), altered electrophoretic and isoelectrofocusing patterns, and shift to the left of the precipitin curve. The enzyme was stable under all the conditions tested (heat, urea, guanidine‐HCl, and storage). Optimum pH, Ki for 6… Expand
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