Literature DB >> 15159488

Alpha-synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication.

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.

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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


  126 in total

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Journal:  Eur J Neurosci       Date:  2011-01-28       Impact factor: 3.386

4.  SNCA variant associated with Parkinson disease and plasma alpha-synuclein level.

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Review 5.  Dopamine D3 receptor: A neglected participant in Parkinson Disease pathogenesis and treatment?

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7.  Toward deciphering the mechanistic role of variations in the Rep1 repeat site in the transcription regulation of SNCA gene.

Authors:  A Afek; L Tagliafierro; O C Glenn; D B Lukatsky; R Gordan; O Chiba-Falek
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8.  β2-Adrenoreceptor is a regulator of the α-synuclein gene driving risk of Parkinson's disease.

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Journal:  Science       Date:  2017-09-01       Impact factor: 47.728

9.  The genetic contributions of SNCA and LRRK2 genes to Lewy Body pathology in Alzheimer's disease.

Authors:  Colton Linnertz; Michael W Lutz; John F Ervin; Jawara Allen; Natalie R Miller; Kathleen A Welsh-Bohmer; Allen D Roses; Ornit Chiba-Falek
Journal:  Hum Mol Genet       Date:  2014-04-28       Impact factor: 6.150

10.  GATA transcription factors directly regulate the Parkinson's disease-linked gene alpha-synuclein.

Authors:  Clemens R Scherzer; Jeffrey A Grass; Zhixiang Liao; Imelda Pepivani; Bin Zheng; Aron C Eklund; Paul A Ney; Juliana Ng; Meghan McGoldrick; Brit Mollenhauer; Emery H Bresnick; Michael G Schlossmacher
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