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Updated: Nov 3, 2025

Visualization of Endoplasmic Reticulum Subdomains in Cultured Cells
Published on: February 18, 2014
Hepatic and Extrahepatic Sources and Manifestations in Endoplasmic Reticulum Storage Diseases
Francesco Callea1, Paola Francalanci2, Isabella Giovannoni2
1Bugando Medical Centre, Department of Molecular Histopathology, Catholic University Health Allied Sciences, Mwanza P.O. Box 1464, Tanzania.
Abstract:
Alpha-1-antitrypsin (AAT) and fibrinogen are secretory acute phase reactant proteins. Circulating AAT and fibrinogen are synthesized exclusively in the liver. Mutations in the encoding genes result in conformational abnormalities of the two molecules that aggregate within the rough endoplasmic reticulum (RER) instead of being regularly exported. That results in AAT-deficiency (AATD) and in hereditary hypofibrinogenemia with hepatic storage (HHHS). The association of plasma deficiency and liver storage identifies a new group of pathologies: endoplasmic reticulum storage disease (ERSD).
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