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Article

Structural Characteristics in the γ Chain Variants Associated with Fibrinogen Storage Disease Suggest the Underlying Pathogenic Mechanism.

International journal of molecular sciences - 20 Jul 2020

Burcu Guven, Bellacchio Emanuele, Sag Elif, Cebi Alper Han, Saygin Ismail, Bahadir Aysenur, Yilmaz Guldal, Corbeddu Marialuisa, Cakir Murat, Callea Francesco

Abstract excerpt

Particular fibrinogen γ chain mutations occurring in the γ-module induce changes that hamper γ-γ dimerization and provoke intracellular aggregation of the mutant fibrinogen, defective export and plasma deficiency. The hepatic storage predisposes to the development of liver disease. This condition has been termed hereditary hypofibrinogenemia with hepatic storage (HHHS). So far, seven of such mutations in the...

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Identifiers

PMID: 32698516
DOI: 10.3390/ijms21145139
PMCID: PMC7404023

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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