A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency.

@article{Wu1994ALI,
  title={A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency.},
  author={Ying Wu and I P Whitman and Ernesto P. Molmenti and Karen L. Moore and Paul J Hippenmeyer and David H. Perlmutter},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1994},
  volume={91 19},
  pages={9014-8}
}
Liver injury in PiZZ alpha 1-antitrypsin (alpha 1-AT) deficiency probably results from toxic effects of the abnormal alpha 1-AT molecule accumulating within the ER of liver cells. However, only 12-15% of individuals with this same genotype develops liver disease. Therefore, we predicted that other genetic traits that determine the net intracellular accumulation of the mutant alpha 1-AT molecule would also determine susceptibility to liver disease. To address this prediction, we transduced skin… CONTINUE READING

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