Article
Single nucleotide polymorphism-mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency.
Hepatology (Baltimore, Md.) - 1 Jul 2009
Pan Shujuan, Huang Lu, McPherson John, Muzny Donna, Rouhani Farshid, Brantly Mark, Gibbs Richard, Sifers Richard N
Abstract excerpt
UNLABELLED: Inappropriate accumulation of the misfolded Z variant of alpha1-antitrypsin in the hepatocyte endoplasmic reticulum (ER) is a risk factor for the development of end-stage liver disease. However, the genetic and environmental factors that contribute to its etiology are poorly understoo...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.