The DOI matches its Crossref record; 53 of the 53 references it cites were found in a registry or an index.
Mitochondria and Quality Control Defects in a Mouse Model of Gaucher Disease—Links to Parkinson’s Disease
Open accessAbstract
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 astrocytes lacking gba. Markers of neurodegeneration--p62/SQSTM1, ubiquitinated proteins, and insoluble α-synuclein--accumulate. Mitochondria were dysfunctional and fragmented, with impaired respiration, reduced respiratory chain complex activities, and a decreased potential maintained by reversal of the ATP synthase. Thus a primary lysosomal defect causes accumulation of dysfunctional mitochondria as a result of impaired autophagy and dysfunctional proteasomal pathways. These data provide conclusive evidence for mitochondrial dysfunction in GD and provide insight into the pathogenesis of PD and PD-GBA.
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Citations
Cites
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Self-citation
Cited by
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Metadata
- Authors
- Osellame, L. D., Rahim, A. A., Hargreaves, I. P., Gegg, M. E., Richard-Londt, A., Brandner, S., Waddington, S. N., Schapira, A. H. V., & Duchen, M. R.
- Venue
- Cell Metabolism
- Publisher
- Elsevier BV
- Published
- 2013-06
- Volume
- 17
- Issue
- 6
- Pages
- 941-953
- ISSN
- 1550-4131 (ISSN-L)
- OpenAlex
- W2082307109
- Cited by
- 334
- References
- 53
- FWCI
- 17.75
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- The paper
- Osellame, L. D., Rahim, A. A., Hargreaves, I. P., Gegg, M. E., Richard-Londt, A., Brandner, S., Waddington, S. N., Schapira, A. H. V., & Duchen, M. R. (2013). Mitochondria and Quality Control Defects in a Mouse Model of Gaucher Disease—Links to Parkinson’s Disease. Cell Metabolism. https://doi.org/10.1016/j.cmet.2013.04.014
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
