A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease

• Main Authors: Wendy Westbroek (Author), Matthew Nguyen (Author), Marina Siebert (Author), Taylor Lindstrom (Author), Robert A. Burnett (Author), Elma Aflaki (Author), Olive Jung (Author), Rafael Tamargo (Author), Jorge L. Rodriguez-Gil (Author), Walter Acosta (Author), An Hendrix (Author), Bahafta Behre (Author), Nahid Tayebi (Author), Hideji Fujiwara (Author), Rohini Sidhu (Author), Benoit Renvoise (Author), Edward I. Ginns (Author), Amalia Dutra (Author), Evgenia Pak (Author), Carole Cramer (Author), Daniel S. Ory (Author), William J. Pavan (Author), Ellen Sidransky (Author)
• Format: Book
• Published: The Company of Biologists, 2016-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 to accumulation of glucosylceramide and glycosylsphingosine in various c...