| Literature DB >> 15159488 |
D W Miller1, S M Hague, J Clarimon, M Baptista, K Gwinn-Hardy, M R Cookson, A B Singleton.
Abstract
The authors recently demonstrated that genetic triplication of the SNCA locus causes Parkinson disease. Here it is shown that SNCA triplication results in a doubling in the amount of alpha-synuclein protein in blood. Examination of brain tissue showed a doubling in the level of SNCA message. However, at the protein level in brain, there was a greater effect on deposition of aggregated forms into insoluble fractions than on net expression of soluble alpha-synuclein.Entities:
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Year: 2004 PMID: 15159488 DOI: 10.1212/01.wnl.0000127517.33208.f4
Source DB: PubMed Journal: Neurology ISSN: 0028-3878 Impact factor: 9.910