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Structural variants in SNCA gene and the implication to synucleinopathies.

Publication ,  Journal Article
Chiba-Falek, O
Published in: Curr Opin Genet Dev
June 2017

Synucleinopathies are a group of neurodegenerative diseases that share a common pathological lesion of intracellular protein inclusions largely composed of aggregates of alpha-synuclein protein. Accumulating evidence, including genome-wide association studies, has implicated the alpha-synuclein (SNCA) gene in the etiology of synucleinopathies and it has been suggested that SNCA expression levels are critical for the development of these diseases. This review focuses on genetic variants from the class of structural variants (SVs), including multiplication of large genomic segments and short (<50bp) genomic variants such as simple sequence repeats (SSRs), within the SNCA locus. We provide evidence that SNCA-SVs play a key role in the pathogenesis of synucleinopathies via their effects on gene expression and on regulatory mechanisms including transcription and splicing.

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Published In

Curr Opin Genet Dev

DOI

EISSN

1879-0380

Publication Date

June 2017

Volume

44

Start / End Page

110 / 116

Location

England

Related Subject Headings

  • alpha-Synuclein
  • Protein Conformation
  • Protein Aggregation, Pathological
  • Parkinson Disease
  • Neurodegenerative Diseases
  • Microsatellite Repeats
  • Humans
  • Genomic Structural Variation
  • Developmental Biology
  • 3105 Genetics
 

Citation

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ICMJE
MLA
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Chiba-Falek, O. (2017). Structural variants in SNCA gene and the implication to synucleinopathies. Curr Opin Genet Dev, 44, 110–116. https://doi.org/10.1016/j.gde.2017.01.014
Chiba-Falek, Ornit. “Structural variants in SNCA gene and the implication to synucleinopathies.Curr Opin Genet Dev 44 (June 2017): 110–16. https://doi.org/10.1016/j.gde.2017.01.014.
Chiba-Falek O. Structural variants in SNCA gene and the implication to synucleinopathies. Curr Opin Genet Dev. 2017 Jun;44:110–6.
Chiba-Falek, Ornit. “Structural variants in SNCA gene and the implication to synucleinopathies.Curr Opin Genet Dev, vol. 44, June 2017, pp. 110–16. Pubmed, doi:10.1016/j.gde.2017.01.014.
Chiba-Falek O. Structural variants in SNCA gene and the implication to synucleinopathies. Curr Opin Genet Dev. 2017 Jun;44:110–116.
Journal cover image

Published In

Curr Opin Genet Dev

DOI

EISSN

1879-0380

Publication Date

June 2017

Volume

44

Start / End Page

110 / 116

Location

England

Related Subject Headings

  • alpha-Synuclein
  • Protein Conformation
  • Protein Aggregation, Pathological
  • Parkinson Disease
  • Neurodegenerative Diseases
  • Microsatellite Repeats
  • Humans
  • Genomic Structural Variation
  • Developmental Biology
  • 3105 Genetics