The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
LRRK2 mutations cause mitochondrial DNA damage in iPSC-derived neural cells from Parkinson's disease patients: Reversal by gene correction
Open accessAbstract
Parkinson’s disease associated mutations in leucine rich repeat kinase 2 (LRRK2) impair mitochondrial function and increase the vulnerability of induced pluripotent stem cell (iPSC)-derived neural cells from patients to oxidative stress. Since mitochondrial DNA (mtDNA) damage can compromise mitochondrial function, we examined whether LRRK2 mutations can induce damage to the mitochondrial genome. We found greater levels of mtDNA damage in iPSC-derived neural cells from patients carrying homozygous or heterozygous LRRK2 G2019S mutations, or at-risk individuals carrying the heterozygous LRRK2 R1441C mutation, than in cells from unrelated healthy subjects who do not carry LRRK2 mutations. After zinc finger nuclease-mediated repair of the LRRK2 G2019S mutation in iPSCs, mtDNA damage was no longer detected in differentiated neuroprogenitor and neural cells. Our results unambiguously link LRRK2 mutations to mtDNA damage and validate a new cellular phenotype that can be used for examining pathogenic mechanisms and screening therapeutic strategies.
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Instability and decay of the primary structure of DNA
Lindahl, T. (1993) · Nature · doi:10.1038/362709a0 · Cited by 5,679
Cooper, O., Seo, H., Andrabi, S., Guardia-Laguarta, C., Graziotto, J., Sundberg, M., McLean, J. R., Carrillo-Reid, L., Xie, Z., Osborn, T., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3003985 · Cited by 508
Self-citation
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Autophagy as an essential cellular antioxidant pathway in neurodegenerative disease
Giordano, S., Darley-Usmar, V., & Zhang, J. (2014) · Redox Biology · doi:10.1016/j.redox.2013.12.013 · Cited by 366
Dhekne, H. S., Yanatori, I., Gomez, R. C., Tonelli, F., Diez, F., Schüle, B., Steger, M., Alessi, D. R., & Pfeffer, S. R. (2018) · eLife · doi:10.7554/elife.40202 · Cited by 240
Self-citationProgressive dopaminergic alterations and mitochondrial abnormalities in LRRK2 G2019S knock-in mice
Yue, M., Hinkle, K. M., Davies, P., Trushina, E., Fiesel, F. C., Christenson, T. A., Schroeder, A. S., Zhang, L., Bowles, E., Behrouz, B., et al. (2015) · Neurobiology of Disease · doi:10.1016/j.nbd.2015.02.031 · Cited by 281
The role of the LRRK2 gene in Parkinsonism
Li, J.-Q., Tan, L., & Yu, J.-T. (2014) · Molecular Neurodegeneration · doi:10.1186/1750-1326-9-47 · Cited by 249
Metadata
- Authors
- Sanders, L. H., Laganière, J., Cooper, O., Mak, S. K., Vu, B. J., Huang, Y. A., Paschon, D. E., Vangipuram, M., Sundararajan, R., Urnov, F. D., Langston, J. W., Gregory, P. D., Zhang, H. S., Greenamyre, J. T., Isacson, O., & Schüle, B.
- Venue
- Neurobiology of Disease
- Publisher
- Elsevier BV
- Published
- 2014-02
- Volume
- 62
- Pages
- 381-386
- ISSN
- 0969-9961 (ISSN-L)
- OpenAlex
- W2139684689
- Cited by
- 270
- References
- 2
- FWCI
- 12.92
- Type
- journal article
- Language
- en
- Open access
- green
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- Sanders, L. H., Laganière, J., Cooper, O., Mak, S. K., Vu, B. J., Huang, Y. A., Paschon, D. E., Vangipuram, M., Sundararajan, R., Urnov, F. D., Langston, J. W., Gregory, P. D., Zhang, H. S., Greenamyre, J. T., Isacson, O., & Schüle, B. (2014). LRRK2 mutations cause mitochondrial DNA damage in iPSC-derived neural cells from Parkinson's disease patients: Reversal by gene correction. Neurobiology of Disease. https://doi.org/10.1016/j.nbd.2013.10.013
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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