Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin.

@article{Kristiansen2000CubilinPM,
  title={Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin.},
  author={Mikkel T Kristiansen and Maria Aminoff and Christian Jacobsen and Albert de la Chapelle and Ralf Krahe and Pierre J. Verroust and S\oren K Moestrup},
  journal={Blood},
  year={2000},
  volume={96 2},
  pages={405-9}
}
Megaloblastic anemia 1 (MGA1) is an autosomal recessive disorder caused by the selective intestinal malabsorption of intrinsic factor (IF) and vitamin B(12)/cobalamin (Cbl) in complex. Most Finnish patients with MGA1 carry the disease-specific P1297L mutation (FM1) in the IF-B(12) receptor, cubilin. By site-directed mutagenesis, mammalian expression, and functional comparison of the purified wild-type and FM1 mutant forms of the IF-Cbl-binding cubilin region (CUB domains 5-8, amino acid 928… CONTINUE READING

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