The effect of the chemical chaperone 4-phenylbutyrate on secretion and activity of the p.Q160R missense variant of coagulation factor FVII.
Elisabeth AndersenMaria Eugenia CholletMarcello BaroniMirko PinottiFrancesco BernardiEllen SkarpenPer Morten SandsetGrethe SkrettingPublished in: Cell & bioscience (2019)
The present study demonstrates that the chemical chaperone 4-PBA, restores intracellular trafficking and increases the secretion of a missense FVII variant with functional properties in the extrinsic coagulation pathway.