摘要:
Provided is a method of monitoring the treatment of Pompe disease with specific pharmacological chaperones using systemic and/or cellular surrogate markers.
摘要:
Provided are in vitro, ex vivo and in vivo methods for determining whether a patient with Pompe disease will respond to treatment with a specific pharmacological chaperone.
摘要:
The present invention provides methods for improving the production of recombinant proteins through the use of pharmacological chaperones for the recombinant proteins. As exemplified by the present invention, the binding of a pharmacological chaperone to a recombinant protein expressed by a cell can stabilize the protein and increase export of the protein out of the cell's endoplasmic reticulum, and increase secretion of the protein by the cell.
摘要:
The present invention provides methods to determine whether a patient with a lysosomal storage disorder will benefit from treatment with a specific pharmacological chaperone. The present invention exemplifies an in vitro method for determining α-galactosidase A responsiveness to a pharmacological chaperone such as 1-deoxygalactonojirimycin in a cell line expressing a mutant from of α- galactosidase A. The invention also provides a method for diagnosing Fabry disease in patients suspected of having Fabry disease.