Decreased glucocerebrosidase activity and substrate accumulation of glycosphingolipids in a novel GB...
Decreased glucocerebrosidase activity and substrate accumulation of glycosphingolipids in a novel GBA1 D409V knock-in mouse model
About this item
Full title
Author / Creator
Polinski, Nicole K , Martinez, Terina N , Gorodinsky, Alexander , Gareus, Ralph , Sasner, Michael , Herberth, Mark , Switzer, Robert , Ahmad, Syed O , Cosden, Mali , Kandebo, Monika , Drolet, Robert E , Buckett, Peter D , Shan, Weisong , Chen, Yi , Pellegrino, Lee J , Ellsworth, Gregory D , Dungan, Leo B , Hirst, Warren D , Clark, Sean W and Dave, Kuldip D
Publisher
San Francisco: Public Library of Science
Journal title
Language
English
Formats
Publication information
Publisher
San Francisco: Public Library of Science
Subjects
More information
Scope and Contents
Contents
Multiple mutations have been described in the human GBA1 gene, which encodes the lysosomal enzyme beta-glucocerebrosidase (GCase) that degrades glucosylceramide and is pivotal in glycosphingolipid substrate metabolism. Depletion of GCase, typically by homozygous mutations in GBA1, is linked to the lysosomal storage disorder Gaucher's disease (GD) a...
Alternative Titles
Full title
Decreased glucocerebrosidase activity and substrate accumulation of glycosphingolipids in a novel GBA1 D409V knock-in mouse model
Authors, Artists and Contributors
Author / Creator
Martinez, Terina N
Gorodinsky, Alexander
Gareus, Ralph
Sasner, Michael
Herberth, Mark
Switzer, Robert
Ahmad, Syed O
Cosden, Mali
Kandebo, Monika
Drolet, Robert E
Buckett, Peter D
Shan, Weisong
Chen, Yi
Pellegrino, Lee J
Ellsworth, Gregory D
Dungan, Leo B
Hirst, Warren D
Clark, Sean W
Dave, Kuldip D
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_2539515860
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2539515860
Other Identifiers
ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0252325
