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Volume 22
Issue 11
10.3390/ijms22115778
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Review

Hepatic and Extrahepatic Sources and Manifestations in Endoplasmic Reticulum Storage Diseases

by
Francesco Callea
1,*,
Paola Francalanci
2,* and
Isabella Giovannoni
2
1
Bugando Medical Centre, Department of Molecular Histopathology, Catholic University Health Allied Sciences, Mwanza P.O. Box 1464, Tanzania
2
Department of Pathology, Childrens’ Hospital Bambino Gesù IRCCS, 00165 Rome, Italy
*
Authors to whom correspondence should be addressed.
Int. J. Mol. Sci. 2021, 22(11), 5778; https://doi.org/10.3390/ijms22115778
Submission received: 6 May 2021 / Revised: 21 May 2021 / Accepted: 23 May 2021 / Published: 28 May 2021
(This article belongs to the Special Issue Molecular Research in Endoplasmic Reticulum Storage Diseases and Related Disease)
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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).
Keywords: alpha-1-antitrypsin; fibrinogen; hepatic; extrahepatic; deficiency; manifestation alpha-1-antitrypsin; fibrinogen; hepatic; extrahepatic; deficiency; manifestation

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MDPI and ACS Style

Callea, F.; Francalanci, P.; Giovannoni, I. Hepatic and Extrahepatic Sources and Manifestations in Endoplasmic Reticulum Storage Diseases. Int. J. Mol. Sci. 2021, 22, 5778. https://doi.org/10.3390/ijms22115778

AMA Style

Callea F, Francalanci P, Giovannoni I. Hepatic and Extrahepatic Sources and Manifestations in Endoplasmic Reticulum Storage Diseases. International Journal of Molecular Sciences. 2021; 22(11):5778. https://doi.org/10.3390/ijms22115778

Chicago/Turabian Style

Callea, Francesco, Paola Francalanci, and Isabella Giovannoni. 2021. "Hepatic and Extrahepatic Sources and Manifestations in Endoplasmic Reticulum Storage Diseases" International Journal of Molecular Sciences 22, no. 11: 5778. https://doi.org/10.3390/ijms22115778

APA Style

Callea, F., Francalanci, P., & Giovannoni, I. (2021). Hepatic and Extrahepatic Sources and Manifestations in Endoplasmic Reticulum Storage Diseases. International Journal of Molecular Sciences, 22(11), 5778. https://doi.org/10.3390/ijms22115778

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