The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Genetic variability in the SNCA gene influences α‐synuclein levels in the blood and brain
Abstract
Genetic variability in the promoter and 3′ region of the SNCA gene coding α‐synuclein modulates the risk to develop sporadic Parkinson's disease (PD). Whether this is mediated by regulating a‐synuclein expression levels remains unknown. Therefore, we analyzed levels of α‐synuclein in blood and human post mortem brain tissue including the substantia nigra using quantitative real‐time reverse transcriptase‐ polymerase chain reaction and enzyme linked immu‐nosorbent assay in vivo . Single nucleotide polymor‐phism (SNP) rs356219, a tagging SNP for a disease‐ associated haplotype in the 3′ region of the SNCA gene, has a significant effect on SNCA mRNA levels in the substantia nigra and the cerebellum. Further, the “protective” genotype 259/259 of the PD‐associated promoter repeat NACP‐Repl is associated with lower protein levels in blood than genotypes 261/261, 259/261, and 259/263. In conclusion, we provide evidence that a‐synuclein levels are influenced by genetic variability in the promoter and 3′ region of the SNCA gene in vivo .—Fuchs, J., Tichopad, A., Golub, Y., Munz, M., Schweitzer, K. J., Wolf, B., Berg, D., Mueller, J. C., Gasser, T. Genetic variability in the SNCA gene influences α‐synuclein levels in the blood and brain. FASEB J . 22, 1327–1334 (2008)
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Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease
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AlaSOPro mutation in the gene encoding α-synuclein in Parkinson's disease
Krüger, R., Kuhn, W., Müller, T., Woitalla, D., Graeber, M., Kösel, S., Przuntek, H., Epplen, J. T., Schols, L., & Riess, O. (1998) · Nature Genetics · doi:10.1038/ng0298-106 · Cited by 3,836
α-synuclein locus duplication as a cause of familial Parkinson's disease
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-Synuclein in Parkinson's Disease
Stefanis, L. (2012) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a009399 · Cited by 1,446
Chaperone-Mediated Autophagy Markers in Parkinson Disease Brains
Alvarez-Erviti, L., Rodriguez-Oroz, M. C., Cooper, J. M., Caballero, C., Ferrer, I., Obeso, J. A., & Schapira, A. H. V. (2010) · Archives of Neurology · doi:10.1001/archneurol.2010.198 · Cited by 554
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Self-citationGenomewide association study for susceptibility genes contributing to familial Parkinson disease
Pankratz, N., Wilk, J. B., Latourelle, J. C., DeStefano, A. L., Halter, C., Pugh, E. W., Doheny, K. F., Gusella, J. F., Nichols, W. C., Foroud, T., et al. (2009) · Human Genetics · doi:10.1007/s00439-008-0582-9 · Cited by 443
Mollenhauer, B., Cullen, V., Kahn, I., Krastins, B., Outeiro, T. F., Pepivani, I., Ng, J., Schulz-Schaeffer, W., Kretzschmar, H. A., McLean, P. J., et al. (2008) · Experimental Neurology · doi:10.1016/j.expneurol.2008.06.004 · Cited by 382
Metadata
- Authors
- Fuchs, J., Tichopad, A., Golub, Y., Munz, M., Schweitzer, K. J., Wolf, B., Berg, D., Mueller, J. C., & Gasser, T.
- Venue
- The FASEB Journal
- Publisher
- Wiley
- Published
- 2007-12-27
- Volume
- 22
- Issue
- 5
- Pages
- 1327-1334
- ISSN
- 0892-6638 (ISSN-L)
- 1530-6860
- OpenAlex
- W1985034219
- Cited by
- 247
- References
- 6
- FWCI
- 9.62
- Type
- journal article
- Language
- en
- Open access
- closed
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- Fuchs, J., Tichopad, A., Golub, Y., Munz, M., Schweitzer, K. J., Wolf, B., Berg, D., Mueller, J. C., & Gasser, T. (2008). Genetic variability in the SNCA gene influences α‐synuclein levels in the blood and brain. The FASEB Journal. https://doi.org/10.1096/fj.07-9348com
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