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α1-Antitrypsin Deficiency

Liver Disease Associated With Retention of a Mutant Secretory Glycoprotein in the Endoplasmic Reticulum
  • David H. Perlmutter
Part of the Methods in Molecular Biology™ book series (MIMB, volume 232)

Abstract

The classical form of α1-antitryspsin (α1AT) deficiency, homozygous for the α1ATZ allele, is associated with a mutant protein that is retained in the endoplasmic reticulum (ER) of liver cells rather than secreted into the blood and body fluids. Affected individuals are susceptible to liver injury and hepatocellular carcinoma. Most of the evidence in the literature suggests that liver disease is caused by

Keywords

Endoplasmic Reticulum Endoplasmic Reticulum Stress Fabry Disease Nephrogenic Diabetes Insipidus Endoplasmic Reticulum Retention 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Humana Press Inc., Totowa, NJ 2003

Authors and Affiliations

  • David H. Perlmutter
    • 1
    • 2
  1. 1.Department of PediatricsUniversity of Pittsburgh School of MedicinePittsburgh
  2. 2.Children’s Hospital of PittsburghPittsburgh

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