The DOI matches its Crossref record; 20 of the 20 references it cites were found in a registry or an index.
Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism
Abstract
The DJ-1 gene encodes a ubiquitous, highly conserved protein. Here, we show that DJ-1 mutations are associated with PARK7, a monogenic form of human parkinsonism. The function of the DJ-1 protein remains unknown, but evidence suggests its involvement in the oxidative stress response. Our findings indicate that loss of DJ-1 function leads to neurodegeneration. Elucidating the physiological role of DJ-1 protein may promote understanding of the mechanisms of brain neuronal maintenance and pathogenesis of Parkinson's disease.
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Cites
WHAT IF: A molecular modeling and drug design program
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Self-citationDJ-1, a Novel Oncogene Which Transforms Mouse NIH3T3 Cells in Cooperation withras
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PIAS Proteins Modulate Transcription Factors by Functioning as SUMO-1 Ligases
Kotaja, N., Karvonen, U., Jänne, O. A., & Palvimo, J. J. (2002) · Molecular and Cellular Biology · doi:10.1128/mcb.22.14.5222-5234.2002 · Cited by 425
PARK7, a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, on Chromosome 1p36
van Duijn, C. M., Dekker, M. C. J., Bonifati, V., Galjaard, R. J., Houwing-Duistermaat, J. J., Snijders, P. J. L. M., Testers, L., Breedveld, G. J., Horstink, M., Sandkuijl, L. A., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/322996 · Cited by 379
Self-citationDJ-1 Positively Regulates the Androgen Receptor by Impairing the Binding of PIASxα to the Receptor
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Cited by
Mitochondrial Dysfunction and Oxidative Stress in Neurodegenerative Diseases
Lin, M. T., & Beal, M. F. (2006) · Nature · doi:10.1038/nature05292 · Cited by 6,455
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Poewe, W., Seppi, K., Tanner, C. M., Halliday, G. M., Brundin, P., Volkmann, J., Schrag, A.-E., & Lang, A. E. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.13 · Cited by 5,415
The new mutation, E46K, of α‐synuclein causes parkinson and Lewy body dementia
Zarranz, J. J., Alegre, J., Gómez‐Esteban, J. C., Lezcano, E., Ros, R., Ampuero, I., Vidal, L., Hoenicka, J., Rodriguez, O., Atarés, B., et al. (2004) · Annals of Neurology · doi:10.1002/ana.10795 · Cited by 2,737
The Role of Oxidative Stress in Parkinson's Disease
Dias, V., Junn, E., & Mouradian, M. M. (2013) · Journal of Parkinson’s Disease · doi:10.3233/jpd-130230 · Cited by 1,845
Metadata
- Authors
- 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., van Dongen, J. W., Vanacore, N., van Swieten, J. C., Brice, A., Meco, G., van Duijn, C. M., Oostra, B. A., & Heutink, P.
- Venue
- Science
- Published
- 2003-01-10
- Volume
- 299
- Issue
- 5604
- Pages
- 256-259
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2104382960
- Cited by
- 2,778
- References
- 20
- FWCI
- 97.33
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism. https://app.cochat.ai/papers/10.1126/science.1077209
- The paper
- 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., van Dongen, J. W., Vanacore, N., van Swieten, J. C., Brice, A., Meco, G., van Duijn, C. M., Oostra, B. A., & Heutink, P. (2003). Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism. Science. https://doi.org/10.1126/science.1077209
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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.
