Evidence map›Paper›PMID 28982678›Full record

ArticleDisease models & mechanisms2017

Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies.

Jörn M Völker, Mykola Dergai, Luciano A Abriata, Yves Mingard, Daniel Ysselstein, Dimitri Krainc, Matteo Dal Peraro, Gabriele Fischer von Mollard, Dirk Fasshauer, Judith Koliwer and 1 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Disease models & mechanisms, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 28% of its field
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

7 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
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

11 authors at 4 institutions in 3 countries.

Jörn M VölkerBiochemistry III/Faculty of Chemistry, Bielefeld University, Universitätsstraße 25, 33615 Bielefeld, Germany.
Mykola DergaiDepartment of Fundamental Neurosciences, University of Lausanne, Rue du Bugnon 9, 1005 Lausanne, Switzerland.
Luciano A AbriataInstitute of Bioengineering, School of Life Sciences, École Polytechnique Fédérale de Lausanne (EPFL), CH-1015 Lausanne, Switzerland.
Yves MingardDepartment of Fundamental Neurosciences, University of Lausanne, Rue du Bugnon 9, 1005 Lausanne, Switzerland.
Daniel YsselsteinDepartment of Neurology, Northwestern University Feinberg School of Medicine, 303 East Chicago Avenue, 60611 Chicago, USA.
Dimitri KraincDepartment of Neurology, Northwestern University Feinberg School of Medicine, 303 East Chicago Avenue, 60611 Chicago, USA.
Matteo Dal PeraroInstitute of Bioengineering, School of Life Sciences, École Polytechnique Fédérale de Lausanne (EPFL), CH-1015 Lausanne, Switzerland.
Gabriele Fischer von MollardBiochemistry III/Faculty of Chemistry, Bielefeld University, Universitätsstraße 25, 33615 Bielefeld, Germany.
Dirk FasshauerDepartment of Fundamental Neurosciences, University of Lausanne, Rue du Bugnon 9, 1005 Lausanne, Switzerland.
Judith KoliwerBiochemistry III/Faculty of Chemistry, Bielefeld University, Universitätsstraße 25, 33615 Bielefeld, Germany judith.koliwer@uni-bielefeld.de schwake@northwestern.edu.ORCID 0000-0002-5644-1265
Michael SchwakeBiochemistry III/Faculty of Chemistry, Bielefeld University, Universitätsstraße 25, 33615 Bielefeld, Germany judith.koliwer@uni-bielefeld.de schwake@northwestern.edu.ORCID 0000-0002-4173-2166
Bielefeld University · DENorthwestern University · USUniversity of Lausanne · CHSIB Swiss Institute of Bioinformatics · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Progressive myoclonus epilepsies (PMEs) are inherited disorders characterized by myoclonus, generalized tonic-clonic seizures, and ataxia. One of the genes that is associated with PME is the ER-to-Golgi Q

Indexed as

Amino Acid MotifsAmino Acid SequenceArginineComputer SimulationEndoplasmic ReticulumGolgi ApparatusHumansModels, MolecularMutationMyoclonic Epilepsies, ProgressiveQb-SNARE ProteinsSaccharomyces cerevisiaeSaccharomyces cerevisiae ProteinsSNARE ProteinsArginineBOS1 protein, S cerevisiaeGOSR2 protein, humanQb-SNARE ProteinsSaccharomyces cerevisiae ProteinsSNARE ProteinsBos1GOSR2GS27MembrinPMEProgressive myoclonus epilepsies

Identifiers

PMID28982678
PMCPMC5769602
OpenAlexW2761916188

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.