Ontology highlight
ABSTRACT:
SUBMITTER: Jian J
PROVIDER: S-EPMC5264254 | biostudies-literature | 2016 Nov
REPOSITORIES: biostudies-literature
EBioMedicine 20161024
Gaucher disease (GD), the most common lysosomal storage disease, is caused by mutations in GBA1 encoding of β-glucocerebrosidase (GCase). Recently it was reported that progranulin (PGRN) insufficiency and deficiency associated with GD in human and mice, respectively. However the underlying mechanisms remain unknown. Here we report that PGRN binds directly to GCase and its deficiency results in aggregation of GCase and its receptor LIMP2. Mass spectrometry approaches identified HSP70 as a GCase/L ...[more]