Literature DB >> 34071368

Hepatic and Extrahepatic Sources and Manifestations in Endoplasmic Reticulum Storage Diseases.

Francesco Callea1, Paola Francalanci2, Isabella Giovannoni2.   

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).

Entities:  

Keywords:  alpha-1-antitrypsin; deficiency; extrahepatic; fibrinogen; hepatic; manifestation

Year:  2021        PMID： 34071368     DOI： 10.3390/ijms22115778

Source DB:  PubMed          Journal:  Int J Mol Sci        ISSN： 1422-0067            Impact factor:   5.923


  92 in total

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Review 1.  Protein Misfolding and Aggregation: The Relatedness between Parkinson's Disease and Hepatic Endoplasmic Reticulum Storage Disorders.

Authors:  Francisco J Padilla-Godínez; Rodrigo Ramos-Acevedo; Hilda Angélica Martínez-Becerril; Luis D Bernal-Conde; Jerónimo F Garrido-Figueroa; Marcia Hiriart; Adriana Hernández-López; Rubén Argüero-Sánchez; Francesco Callea; Magdalena Guerra-Crespo
Journal:  Int J Mol Sci       Date:  2021-11-18       Impact factor: 5.923
  1 in total

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