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Keywords: Glucocerebrosidase
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Journal Articles
Wendy Westbroek, Matthew Nguyen, Marina Siebert, Taylor Lindstrom, Robert A. Burnett, Elma Aflaki, Olive Jung, Rafael Tamargo, Jorge L. Rodriguez-Gil, Walter Acosta, An Hendrix, Bahafta Behre, Nahid Tayebi, Hideji Fujiwara, Rohini Sidhu, Benoit Renvoise, Edward I. Ginns, Amalia Dutra, Evgenia Pak, Carole Cramer, Daniel S. Ory, William J. Pavan, Ellen Sidransky
Journal:
Disease Models & Mechanisms
Dis Model Mech (2016) 9 (7): 769–778.
Published: 1 July 2016
...; Carole Cramer; Daniel S. Ory; William J. Pavan; Ellen Sidransky ABSTRACT Glucocerebrosidase is a lysosomal hydrolase involved in the breakdown of glucosylceramide. Gaucher disease, a recessive lysosomal storage disorder, is caused by mutations in the gene GBA1 . Dysfunctional glucocerebrosidase leads...
