Article
Quantitative isolation of alphalAT mutant Z protein polymers from human and mouse livers and the effect of heat.
Hepatology (Baltimore, Md.) - 1 Jan 2005
An Jae-Koo, Blomenkamp Keith, Lindblad Douglas, Teckman Jeffrey H
Abstract excerpt
Alpha-1-antitrypsin (alpha1AT) deficiency in its most common form is caused by homozygosity for the alpha1AT mutant Z gene. This gene encodes a mutant Z secretory protein, primarily synthesized in the liver, that assumes an abnormal conformation and accumulates within hepatocytes causing liver cell injury. Studies have shown that mutant alpha1ATZ protein molecules form unique protein polymers. These Z protein...
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