Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia.

@article{V2005QualityCO,
  title={Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia.},
  author={Dũng Gs. Ts Vũ and Corinne Di Sanza and Doroth{\'e}e Caille and Philippe de Moerloose and Holger Scheib and Paolo Da Meda and M Neerman-Arbez},
  journal={Human molecular genetics},
  year={2005},
  volume={14 21},
  pages={
          3271-80
        }
}
Congenital afibrinogenemia is a rare bleeding disorder characterized by the absence in circulation of fibrinogen, a hexamer composed of two sets of three polypeptides (Aalpha, Bbeta and gamma). Each polypeptide is encoded by a distinct gene, FGA, FGB and FGG, all three clustered in a region of 50 kb on 4q31. A subset of afibrinogenemia mutations has been shown to specifically impair fibrinogen secretion, but the underlying molecular mechanisms remained to be elucidated. Here, we show that… CONTINUE READING

Similar Papers

References

Publications referenced by this paper.
SHOWING 1-10 OF 47 REFERENCES

cDNA sequence of a second fibrinogen alpha chain in lamprey: an archetypal version alignable with full-length beta and gamma chains.

  • Proceedings of the National Academy of Sciences of the United States of America
  • 1992
VIEW 7 EXCERPTS
HIGHLY INFLUENTIAL