Gaucher disease: Progress and ongoing challenges

PK Mistry, G Lopez, R Schiffmann, NW Barton… - Molecular genetics and …, 2017 - Elsevier
Over the past decades, tremendous progress has been made in the field of Gaucher
disease, the inherited deficiency of the lysosomal enzyme glucocerebrosidase. Many of the
colossal achievements took place during the course of the sixty-year tenure of Dr. Roscoe
Brady at the National Institutes of Health. These include the recognition of the enzymatic
defect involved, the isolation and characterization of the protein, the localization and
characterization of the gene and its nearby pseudogene, as well as the identification of the …