Single nucleotide polymorphism–mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end‐stage liver disease in alpha1‐antitrypsin deficiency
Shujuan Pan, Lu Huang, John McPherson, Donna Muzny, Farshid Rouhani, Mark Brantly, Richard Gibbs, Richard N. Sifers – 23 June 2009 – 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 understood. ER mannosidase I (ERManI) is a quality control factor that plays a critical role in the sorting and targeting of misfolded glycoproteins for proteasome‐mediated degradation.