Literature DB >> 15455394

alpha-Synuclein promoter confers susceptibility to Parkinson's disease.

Philippe Pals1, Sarah Lincoln, Jonathan Manning, Michael Heckman, Lisa Skipper, Mary Hulihan, Marleen Van den Broeck, Tim De Pooter, Patrick Cras, Julia Crook, Christine Van Broeckhoven, Matt J Farrer.   

Abstract

Familial Parkinson's disease (PD) has been linked to missense and genomic multiplication mutations of the alpha-synuclein gene (SNCA). Genetic variability within SNCA has been implicated in idiopathic PD in many populations. We now confirm and extend these findings, within a Belgian sample, using a high-resolution map of genetic markers across the SNCA locus. Our study implicates the SNCA promoter in susceptibility to PD, and more specifically defines a minimum promoter haplotype, spanning approximately 15.3kb of sequence, which is overrepresented in patients. Our findings represent a biomarker for PD and may have implications for patient diagnosis, longitudinal evaluation, and treatment.

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Year:  2004        PMID: 15455394     DOI: 10.1002/ana.20268

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


  75 in total

1.  A search for SNCA 3' UTR variants identified SNP rs356165 as a determinant of disease risk and onset age in Parkinson's disease.

Authors:  Lucía F Cardo; Eliecer Coto; Lorena de Mena; René Ribacoba; Oswaldo Lorenzo-Betancor; Pau Pastor; Lluis Samaranch; Ignacio F Mata; Marta Díaz; Germán Moris; Manuel Menéndez; Ana I Corao; Victoria Alvarez
Journal:  J Mol Neurosci       Date:  2011-11-11       Impact factor: 3.444

Review 2.  Axon degeneration in Parkinson's disease.

Authors:  Robert E Burke; Karen O'Malley
Journal:  Exp Neurol       Date:  2012-01-18       Impact factor: 5.330

3.  Synuclein expression in the lizard Anolis carolinensis.

Authors:  Mattia Toni; Carla Cioni; Federica De Angelis; Maria Carmela Bonaccorsi di Patti
Journal:  J Comp Physiol A Neuroethol Sens Neural Behav Physiol       Date:  2016-07-08       Impact factor: 1.836

4.  Genomewide association, Parkinson disease, and PARK10.

Authors:  Matthew J Farrer; Kristoffer Haugarvoll; Owen A Ross; Jeremy T Stone; Nicole M Milkovic; Stephanie A Cobb; Andrew J Whittle; Sarah J Lincoln; Mary M Hulihan; Michael G Heckman; Linda R White; Jan O Aasly; J Mark Gibson; David Gosal; Timothy Lynch; Zbigniew K Wszolek; Ryan J Uitti; Mathias Toft
Journal:  Am J Hum Genet       Date:  2006-06       Impact factor: 11.025

5.  SNCA 3'UTR genetic variants in patients with Parkinson's disease and REM sleep behavior disorder.

Authors:  M Toffoli; E Dreussi; E Cecchin; M Valente; N Sanvilli; M Montico; S Gagno; M Garziera; M Polano; M Savarese; G Calandra-Buonaura; F Placidi; M Terzaghi; G Toffoli; G L Gigli
Journal:  Neurol Sci       Date:  2017-04-13       Impact factor: 3.307

6.  The effect of SNCA 3' region on the levels of SNCA-112 splicing variant.

Authors:  Jeanette J McCarthy; Colton Linnertz; Laura Saucier; James R Burke; Christine M Hulette; Kathleen A Welsh-Bohmer; Ornit Chiba-Falek
Journal:  Neurogenetics       Date:  2010-11-03       Impact factor: 2.660

7.  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

8.  Behavioral and histopathological consequences of paraquat intoxication in mice: effects of alpha-synuclein over-expression.

Authors:  P O Fernagut; C B Hutson; S M Fleming; N A Tetreaut; J Salcedo; E Masliah; M F Chesselet
Journal:  Synapse       Date:  2007-12       Impact factor: 2.562

9.  Aggregates assembled from overexpression of wild-type alpha-synuclein are not toxic to human neuronal cells.

Authors:  Li-Wen Ko; Hwai-Hwa C Ko; Wen-Lang Lin; Jayanranyan G Kulathingal; Shu-Hui C Yen
Journal:  J Neuropathol Exp Neurol       Date:  2008-11       Impact factor: 3.685

10.  Genetic regulation of alpha-synuclein mRNA expression in various human brain tissues.

Authors:  Colton Linnertz; Laura Saucier; Dongliang Ge; Kenneth D Cronin; James R Burke; Jeffrey N Browndyke; Christine M Hulette; Kathleen A Welsh-Bohmer; Ornit Chiba-Falek
Journal:  PLoS One       Date:  2009-10-16       Impact factor: 3.240

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