Evidence map›Paper›PMID 28319736›Full record

ReviewCurrent opinion in genetics & development2017

Structural variants in SNCA gene and the implication to synucleinopathies.

Ornit Chiba-Falek

Abstract readReview
In one paragraph

Review in Current opinion in genetics & development, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

16 citing papers in PubMed.

  1. Genetic analysis of neurodegenerative diseases.The Journal of clinical investigation · 2026
    Review
  2. Review
  3. Review
  4. Article
  5. Epigenomes · 2023
    Article
  6. Review
  7. Review
  8. Article
  9. Review
  10. Genetic Analysis and Literature Review ofFrontiers in aging neuroscience · 2021
    Article
  11. Article
  12. Review
  13. Article
  14. Article
  15. Article
  16. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

1 author.

Ornit Chiba-FalekDepartment of Neurology, Duke University Medical Center, Durham, NC 27710, USA; Center for Genomic and Computational Biology, Duke University Medical Center, Durham, NC 27710, USA. Electronic address: o.chibafalek@duke.edu.

Funding

Lewy body neuropathologies and SNCA gene: variants expression and splicingR01NS085011 · NINDS · DUKE UNIVERSITY · PI CHIBA-FALEK, ORNIT · 2013 to 2017
$1.8M
NINDS NIH HHS R01 NS085011
6 · The paper itself

Abstract

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.

Indexed as

alpha-SynucleinGenomic Structural VariationHumansMicrosatellite RepeatsNeurodegenerative DiseasesParkinson DiseaseProtein Aggregation, PathologicalProtein Conformationalpha-SynucleinSNCA protein, human

Identifiers

PMID28319736
PMCPMC5447477

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.