Hepatic and Extrahepatic Sources and Manifestations in Endoplasmic Reticulum Storage Diseases

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 retic...

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Detalles Bibliográficos
Autores principales: Callea, Francesco, Francalanci, Paola, Giovannoni, Isabella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8198767/
https://www.ncbi.nlm.nih.gov/pubmed/34071368
http://dx.doi.org/10.3390/ijms22115778
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author Callea, Francesco
Francalanci, Paola
Giovannoni, Isabella
author_facet Callea, Francesco
Francalanci, Paola
Giovannoni, Isabella
author_sort Callea, Francesco
collection PubMed
description 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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spelling pubmed-81987672021-06-14 Hepatic and Extrahepatic Sources and Manifestations in Endoplasmic Reticulum Storage Diseases Callea, Francesco Francalanci, Paola Giovannoni, Isabella Int J Mol Sci Review 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). MDPI 2021-05-28 /pmc/articles/PMC8198767/ /pubmed/34071368 http://dx.doi.org/10.3390/ijms22115778 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Callea, Francesco
Francalanci, Paola
Giovannoni, Isabella
Hepatic and Extrahepatic Sources and Manifestations in Endoplasmic Reticulum Storage Diseases
title Hepatic and Extrahepatic Sources and Manifestations in Endoplasmic Reticulum Storage Diseases
title_full Hepatic and Extrahepatic Sources and Manifestations in Endoplasmic Reticulum Storage Diseases
title_fullStr Hepatic and Extrahepatic Sources and Manifestations in Endoplasmic Reticulum Storage Diseases
title_full_unstemmed Hepatic and Extrahepatic Sources and Manifestations in Endoplasmic Reticulum Storage Diseases
title_short Hepatic and Extrahepatic Sources and Manifestations in Endoplasmic Reticulum Storage Diseases
title_sort hepatic and extrahepatic sources and manifestations in endoplasmic reticulum storage diseases
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8198767/
https://www.ncbi.nlm.nih.gov/pubmed/34071368
http://dx.doi.org/10.3390/ijms22115778
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