Ontology highlight
ABSTRACT:
SUBMITTER: Osellame LD
PROVIDER: S-EPMC3678026 | biostudies-literature | 2013 Jun
REPOSITORIES: biostudies-literature
Osellame Laura D LD Rahim Ahad A AA Hargreaves Iain P IP Gegg Matthew E ME Richard-Londt Angela A Brandner Sebastian S Waddington Simon N SN Schapira Anthony H V AHV Duchen Michael R MR
Cell metabolism 20130523 6
Mutations in the glucocerebrosidase (gba) gene cause Gaucher disease (GD), the most common lysosomal storage disorder, and increase susceptibility to Parkinson's disease (PD). While the clinical and pathological features of idiopathic PD and PD related to gba (PD-GBA) mutations are very similar, cellular mechanisms underlying neurodegeneration in each are unclear. Using a mouse model of neuronopathic GD, we show that autophagic machinery and proteasomal machinery are defective in neurons and ast ...[more]