A Guided Tour of the Structural Biology of Gaucher Disease : Acid-β-Glucosidase and Saposin C
Author
Source
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-15, 15 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-11-22
Country of Publication
Egypt
No. of Pages
15
Main Subjects
Abstract EN
Mutations in both acid-β-glucosidase (GCase) and saposin C lead to Gaucher disease, the most common lysosomal storage disorder.
The past several years have seen an explosion of structural and biochemical information for these proteins, which have provided new insight into the biology and pathogenesis of Gaucher disease, as well as opportunities for new therapeutic directions.
Nearly 20 crystal structures of GCase are now available, from different heterologous sources, complexed with different ligands in the active site, in different glycosylation states, as well as one that harbors a prevalent disease-causing mutation, N370S.
For saposin C, two NMR and 3 crystal structures have been solved, each with its unique snapshot.
This review focuses on the details of these structures to highlight salient common and disparate features that contribute to our current state of knowledge of this complex orphan disease.
American Psychological Association (APA)
Lieberman, Raquel L.. 2011. A Guided Tour of the Structural Biology of Gaucher Disease : Acid-β-Glucosidase and Saposin C. Enzyme Research،Vol. 2011, no. 2011, pp.1-15.
https://search.emarefa.net/detail/BIM-512644
Modern Language Association (MLA)
Lieberman, Raquel L.. A Guided Tour of the Structural Biology of Gaucher Disease : Acid-β-Glucosidase and Saposin C. Enzyme Research No. 2011 (2011), pp.1-15.
https://search.emarefa.net/detail/BIM-512644
American Medical Association (AMA)
Lieberman, Raquel L.. A Guided Tour of the Structural Biology of Gaucher Disease : Acid-β-Glucosidase and Saposin C. Enzyme Research. 2011. Vol. 2011, no. 2011, pp.1-15.
https://search.emarefa.net/detail/BIM-512644
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-512644