The DOI matches its Crossref record; 148 of the 148 references it cites were found in a registry or an index.
Recent Advances in the Genetics of Parkinson's Disease
Open accessAbstract
Genetic studies have provided valuable insight into the pathological mechanisms underlying Parkinson's disease (PD). The elucidation of genetic components to what was once largely considered a nongenetic disease has given rise to a multitude of cell and animal models enabling the dissection of molecular pathways involved in disease etiology. Here, we review advances obtained from models of dominant mutations in α-synuclein and LRRK2 as well as recessive PINK1, parkin and DJ-1 mutations. Recent genome-wide association studies have implicated genetic variability at two of these loci, α-synuclein and LRRK2, as significant risk factors for developing sporadic PD. This, coupled with the established role of mitochondrial impairment in both familial and sporadic PD, highlights the likelihood of common mechanisms fundamental to the etiology of both.
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1 retracted
Tsigelny, I. F., Crews, L., Desplats, P., Shaked, G. M., Sharikov, Y., Mizuno, H., Spencer, B., Rockenstein, E., Trejo, M., Platoshyn, O., et al. (2008) · PLoS ONE · doi:10.1371/journal.pone.0003135 · Cited by 281
RetractedStaging of brain pathology related to sporadic Parkinson’s disease
Braak, H., Tredici, K. D., Rüb, U., de Vos, R. A. I., Jansen Steur, E. N. H., & Braak, E. (2003) · Neurobiology of Aging · doi:10.1016/s0197-4580(02)00065-9 · Cited by 10,777
Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease
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Epidemiology of Parkinson's disease
de Lau, L. M., & Breteler, M. M. (2006) · The Lancet Neurology · doi:10.1016/s1474-4422(06)70471-9 · Cited by 4,110
Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology
Zimprich, A., Biskup, S., Leitner, P., Lichtner, P., Farrer, M., Lincoln, S., Kachergus, J., Hulihan, M., Uitti, R. J., Calne, D. B., et al. (2004) · Neuron · doi:10.1016/j.neuron.2004.11.005 · Cited by 3,005
PINK1 Is Selectively Stabilized on Impaired Mitochondria to Activate Parkin
Narendra, D. P., Jin, S. M., Tanaka, A., Suen, D.-F., Gautier, C. A., Shen, J., Cookson, M. R., & Youle, R. J. (2010) · PLoS Biology · doi:10.1371/journal.pbio.1000298 · Cited by 2,944
PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1
Geisler, S., Holmström, K. M., Skujat, D., Fiesel, F. C., Rothfuss, O. C., Kahle, P. J., & Springer, W. (2010) · Nature Cell Biology · doi:10.1038/ncb2012 · Cited by 2,835
Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism
Bonifati, V., Rizzu, P., van Baren, M. J., Schaap, O., Breedveld, G. J., Krieger, E., Dekker, M. C. J., Squitieri, F., Ibanez, P., Joosse, M., et al. (2003) · Science · doi:10.1126/science.1077209 · Cited by 2,778
Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease
Paisán-Ruı́z, C., Jain, S., Evans, E. W., Gilks, W. P., Simón, J., van der Brug, M., de Munain, A. L., Aparicio, S., Gil, A. M., Khan, N., et al. (2004) · Neuron · doi:10.1016/j.neuron.2004.10.023 · Cited by 2,405
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Metadata
- Authors
- Martin, I., Dawson, V. L., & Dawson, T. M.
- Venue
- Annual Review of Genomics and Human Genetics
- Publisher
- Annual Reviews
- Published
- 2011-09-22
- Volume
- 12
- Issue
- 1
- Pages
- 301-325
- ISSN
- 1527-8204 (ISSN-L)
- 1545-293X
- OpenAlex
- W2102436080
- Cited by
- 437
- References
- 148
- FWCI
- 5.54
- Type
- journal article
- Language
- en
- Open access
- green
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- Martin, I., Dawson, V. L., & Dawson, T. M. (2011). Recent Advances in the Genetics of Parkinson's Disease. Annual Review of Genomics and Human Genetics. https://doi.org/10.1146/annurev-genom-082410-101440
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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.
