Article
Pharmacological chaperone therapy for Fabry disease.
Proceedings of the Japan Academy. Series B, Physical and biological sciences - 1 Jan 2012
Ishii Satoshi
Abstract excerpt
Fabry disease is an inherited lysosomal storage disorder caused by deficient α-galactosidase A activity. Many missense mutations in Fabry disease often cause misfolded gene products, which leads to their retention in the endoplasmic reticulum by the quality control system; they are then removed by endoplasmic reticulum-associated degradation. We discovered that a potent α-galactosidase A inhibitor,...
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