The mechanism of Z α1-antitrypsin accumulation in the liver

@article{Lomas1992TheMO,
  title={The mechanism of Z α1-antitrypsin accumulation in the liver},
  author={D. Lomas and Dyfed LI-Evans and J. Finch and R. Carrell},
  journal={Nature},
  year={1992},
  volume={357},
  pages={605-607}
}
  • D. Lomas, Dyfed LI-Evans, +1 author R. Carrell
  • Published 1992
  • Biology
  • Nature
  • MOST northern Europeans have only the normal M form of the plasma protease inhibitor α1,-antitrypsin, but some 4% are heterozygotes for the Z deficiency variant1. For reasons that have not been well-understood, the Z mutation results in a blockage in the final stage of processing of antitrypsin in the liver2 such that in the Z homozygote only 15% of the protein is secreted into the plasma. The 85% of the α1, -antitrypsin that is not secreted accumulates in the endoplasmic reticulum of the… CONTINUE READING
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    References

    SHOWING 1-10 OF 13 REFERENCES
    Accumulation of PiZ alpha 1-antitrypsin causes liver damage in transgenic mice.
    • 243
    • PDF
    Purification of alpha1-antitrypsin from plasma through thiol-disulfide interchange.
    • 79
    Serpin tertiary structure transformation.
    • 134