Manipulating the quality control pathway in transfected cells: low temperature allows rescue of secretion-defective fibrinogen mutants.

@article{V2008ManipulatingTQ,
  title={Manipulating the quality control pathway in transfected cells: low temperature allows rescue of secretion-defective fibrinogen mutants.},
  author={Dũng Gs. Ts Vũ and Corinne Di Sanza and M Neerman-Arbez},
  journal={Haematologica},
  year={2008},
  volume={93 2},
  pages={
          224-31
        }
}
BACKGROUND Congenital afibrinogenemia is characterized by the absence of fibrinogen, a hexamer composed of two copies of three polypeptides, Aalpha. Bbeta and gamma. The disease is caused by mutations in one of the three fibrinogen-encoding genes, FGA, FGB and FGG. Among these, several mutations have been reported to specifically impair fibrinogen secretion. We previously showed that secretion-defective fibrinogen mutants are retained in a pre-Golgi compartment and demonstrated the importance… CONTINUE READING

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