Associated Papers
The effect of the chemical chaperone 4-phenylbutyrate on secretion and activity of the p.Q160R missense variant of coagulation factor FVII.
Andersen E et al.
Cell & Bioscience, 2019
Activation of Endoplasmic Reticulum Stress and Unfolded Protein Response in Congenital Factor VII Deficiency.
Andersen E et al.
Thrombosis and Haemostasis, 2018
Trp(250) -hK2 is defective in intracellular trafficking and activates the unfolded protein response.
Choi EJ et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2015
The chemical chaperone sodium 4-phenylbutyrate improves the secretion of the protein CA267T mutant in CHO-K1 cells trough the GRASP55 pathway.
Chollet ME et al.
Cell & Bioscience, 2015
Homozygous protein C deficiency with late onset venous thrombosis: identification and in vitro expression study of a novel Pro275Ser mutation.
Yu T et al.
Pathology, 2012
Homozygous protein C deficiency with late onset venous thrombosis: identification and in vitro expression study of a novel Pro275Ser mutation.
Yu T et al.
Pathology, 2012
Protein C mutation (A267T) results in ER retention and unfolded protein response activation.
Tjeldhorn L et al.
Plos One, 2011
Functional characterization of the protein C A267T mutation: evidence for impaired secretion due to defective intracellular transport.
Tjeldhorn L et al.
Bmc Cell Biology, 2010
Late onset of clinical symptoms and recurrent ecchymotic skin lesions in a 12-year-old girl with a severe double heterozygous protein C deficiency.
Loop M et al.
Journal of Pediatric Hematology/oncology, 2004
Structural basis for type I and type II deficiencies of antithrombotic plasma protein C: patterns revealed by three-dimensional molecular modelling of mutations of the protease domain.
Greengard JS et al.
Proteins, 1994
Select a paper to view details