Hepatic endoplasmic reticulum storage diseases

F. Callea, M. Brisigotti, G. Fabbretti, F. Bonino, V. J. Desmet

Research output: Contribution to journalArticle

64 Citations (Scopus)

Abstract

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 abnormality is genetically determined; hence it is hereditary, congenital, familial and permanent. The storage is selective and exclusive for the mutant protein and predisposes to the development of chronic cryptogenic liver disease. ERSD include alpha-1-antitrypsin deficiency, fibrinogen storage and alpha-1-antichymotrypsin deficiency. Basically, the diagnosis of ERSD is a morphological one: Immunohistochemistry and electron microscopy are essential tools for their identification.

Original languageEnglish
Pages (from-to)357-362
Number of pages6
JournalLiver
Volume12
Issue number6
Publication statusPublished - 1992

Fingerprint

Endoplasmic Reticulum
Liver
alpha 1-Antichymotrypsin
alpha 1-Antitrypsin Deficiency
Smooth Endoplasmic Reticulum
Inborn Errors Metabolism
Protein Deficiency
Protein Transport
Mutant Proteins
Fibrinogen
Liver Diseases
Electron Microscopy
Immunohistochemistry
Proteins
Autosomal Recessive alpha-1-Antitrypsin Deficiency

ASJC Scopus subject areas

  • Hepatology

Cite this

Callea, F., Brisigotti, M., Fabbretti, G., Bonino, F., & Desmet, V. J. (1992). Hepatic endoplasmic reticulum storage diseases. Liver, 12(6), 357-362.

Hepatic endoplasmic reticulum storage diseases. / Callea, F.; Brisigotti, M.; Fabbretti, G.; Bonino, F.; Desmet, V. J.

In: Liver, Vol. 12, No. 6, 1992, p. 357-362.

Research output: Contribution to journalArticle

Callea, F, Brisigotti, M, Fabbretti, G, Bonino, F & Desmet, VJ 1992, 'Hepatic endoplasmic reticulum storage diseases', Liver, vol. 12, no. 6, pp. 357-362.
Callea F, Brisigotti M, Fabbretti G, Bonino F, Desmet VJ. Hepatic endoplasmic reticulum storage diseases. Liver. 1992;12(6):357-362.
Callea, F. ; Brisigotti, M. ; Fabbretti, G. ; Bonino, F. ; Desmet, V. J. / Hepatic endoplasmic reticulum storage diseases. In: Liver. 1992 ; Vol. 12, No. 6. pp. 357-362.
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