Literature DB >> 8773602

Genetic studies in Alzheimer's disease with an NACP/alpha-synuclein polymorphism.

Y Xia1, H A Rohan de Silva, B L Rosi, L H Yamaoka, J B Rimmler, M A Pericak-Vance, A D Roses, X Chen, E Masliah, R DeTeresa, A Iwai, M Sundsmo, R G Thomas, C R Hofstetter, E Gregory, L A Hansen, R Katzman, L J Thal, T Saitoh.   

Abstract

The non-Abeta component of Alzheimer's disease amyloid (NAC) is copurified with amyloid from the brain tissue of Alzheimer's disease victims and is immunohistochemically localized to amyloid fibrils. NAC is a hydrophobic peptide fragment from the NAC precursor protein (NACP/alpha-synuclein) that is localized to presynaptic terminals. We used a polymorphic dinucleotide repeat sequence in a genomic clone of NACP for genetic association and linkage studies. Screening of Alzheimer's disease families failed to establish linkage between NACP and Alzheimer's disease. Nevertheless, one of the NACP polymorphisms (NACP allele 2) was shown to have significant association with healthy elderly control individuals with apolipoprotein E risk. This may indicate a possible protective function of the allele.

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Year:  1996        PMID: 8773602     DOI: 10.1002/ana.410400212

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


  24 in total

1.  NACP-Rep1 relates to Beck Depression Inventory scores in healthy humans.

Authors:  Bernd Lenz; Christiane Sysk; Norbert Thuerauf; Marion Clepce; Karin Reich; Helge Frieling; Georg Winterer; Stefan Bleich; Johannes Kornhuber
Journal:  J Mol Neurosci       Date:  2011-01-27       Impact factor: 3.444

2.  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
Journal:  Neurogenetics       Date:  2018-05-05       Impact factor: 2.660

Review 3.  Structural variants in SNCA gene and the implication to synucleinopathies.

Authors:  Ornit Chiba-Falek
Journal:  Curr Opin Genet Dev       Date:  2017-03-02       Impact factor: 5.578

4.  Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element.

Authors:  J W Touchman; A Dehejia; O Chiba-Falek; D E Cabin; J R Schwartz; B M Orrison; M H Polymeropoulos; R L Nussbaum
Journal:  Genome Res       Date:  2001-01       Impact factor: 9.043

Review 5.  Deregulation of α-synuclein in Parkinson's disease: Insight from epigenetic structure and transcriptional regulation of SNCA.

Authors:  Subhrangshu Guhathakurta; Eugene Bok; Baggio A Evangelista; Yoon-Seong Kim
Journal:  Prog Neurobiol       Date:  2017-04-23       Impact factor: 11.685

6.  Reduced expression of α-synuclein in alcoholic brain: influence of SNCA-Rep1 genotype.

Authors:  Paulina Janeczek; Rachel K MacKay; Rodney A Lea; Peter R Dodd; Joanne M Lewohl
Journal:  Addict Biol       Date:  2012-09-13       Impact factor: 4.280

Review 7.  Interaction of apolipoprotein E epsilon 4 with other genetic and non-genetic risk factors in late onset Alzheimer disease: problems facing the investigator.

Authors:  R Katzman; D Kang; R Thomas
Journal:  Neurochem Res       Date:  1998-03       Impact factor: 3.996

8.  Expansion of the Parkinson disease-associated SNCA-Rep1 allele upregulates human alpha-synuclein in transgenic mouse brain.

Authors:  Kenneth D Cronin; Dongliang Ge; Paul Manninger; Colton Linnertz; Anna Rossoshek; Bonnie M Orrison; David J Bernard; Omar M A El-Agnaf; Michael G Schlossmacher; Robert L Nussbaum; Ornit Chiba-Falek
Journal:  Hum Mol Genet       Date:  2009-06-04       Impact factor: 6.150

9.  Role of synucleins in Alzheimer's disease.

Authors:  Leslie Crews; Igor Tsigelny; Makoto Hashimoto; Eliezer Masliah
Journal:  Neurotox Res       Date:  2009-06-24       Impact factor: 3.911

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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