Article
Hepatic endoplasmic reticulum storage diseases.
Liver - 1 Dec 1992
Callea F, Brisigotti M, Fabbretti G, Bonino F, Desmet V J
Abstract excerpt
Endoplasmic Reticulum Storage Diseases (ERSD) represent a novel group of inborn errors of metabolism affecting secretory proteins and resulting in hepatocytic storage and plasma deficiency of the corresponding protein. The hepatocellular storage is due to a molecular abnormality hindering the translocation of the abnormal protein from the rough (RER) to the smooth endoplasmic reticulum (SER). The molecular...
Topics
- Afibrinogenemia
- Endoplasmic Reticulum
- Humans
- Liver
- Liver Diseases
- Metabolism, Inborn Errors
- Phenotype
- alpha 1-Antichymotrypsin
- alpha 1-Antitrypsin Deficiency