Single nucleotide polymorphism–mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1 …

S Pan, L Huang, J McPherson, D Muzny, F Rouhani… - Hepatology, 2009 - journals.lww.com
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.
In this study, we tested whether genetic variations in the human ERManI gene influence the …