Evidence map›Paper›PMID 33737578›Full record

ArticleScientific reports2021

Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease.

Christopher J Minnis, StJohn Townsend, Julia Petschnigg, Elisa Tinelli, Jürg Bähler, Claire Russell, Sara E Mole

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

Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.1field-weighted citation impact, top 24% 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

10 citing papers in PubMed, 15 citations in OpenAlex.

  1. Article
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  4. Review
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  9. Autophagy in the Neuronal Ceroid Lipofuscinoses (Batten Disease).Frontiers in cell and developmental biology · 2022
    Review
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors at 3 institutions in 1 country.

Christopher J MinnisMRC Laboratory for Molecular Cell Biology and Great Ormond Street, Institute of Child Health, University College London, London, WC1E 6BT, UK. christopher.minnis.15@ucl.ac.uk.
StJohn TownsendInstitute of Healthy Ageing, Department of Genetics, Evolution and Environment, University College London, London, WC1E 6BT, UK.
Julia PetschniggMRC Laboratory for Molecular Cell Biology and Great Ormond Street, Institute of Child Health, University College London, London, WC1E 6BT, UK.
Elisa TinelliMRC Laboratory for Molecular Cell Biology and Great Ormond Street, Institute of Child Health, University College London, London, WC1E 6BT, UK.
Jürg BählerInstitute of Healthy Ageing, Department of Genetics, Evolution and Environment, University College London, London, WC1E 6BT, UK.
Claire RussellDepartment of Comparative Biomedical Sciences, Royal Veterinary College, Royal College Street, London, NW1 0TU, UK.
Sara E MoleMRC Laboratory for Molecular Cell Biology and Great Ormond Street, Institute of Child Health, University College London, London, WC1E 6BT, UK.
University College London · GBMRC Laboratory for Molecular Cell Biology · GBRoyal Veterinary College · GB

Funding

Biotechnology and Biological Sciences Research Council 1632387Medical Research Council MC_U12266BMedical Research Council MR/M02492X/1Wellcome TrustWellcome Trust 095598/Z/11/Z
6 · The paper itself

Abstract

Juvenile CLN3 disease is a recessively inherited paediatric neurodegenerative disorder, with most patients homozygous for a 1-kb intragenic deletion in CLN3. The btn1 gene is the Schizosaccharomyces pombe orthologue of CLN3. Here, we have extended the use of synthetic genetic array (SGA) analyses to delineate functional signatures for two different disease-causing mutations in addition to complete deletion of btn1. We show that genetic-interaction signatures can differ for mutations in the same gene, which helps to dissect their distinct functional effects. The mutation equivalent to the minor transcript arising from the 1-kb deletion (btn1

Indexed as

Gene DeletionGenetic Association StudiesHomozygoteHumansMembrane GlycoproteinsMembrane ProteinsModels, GeneticMolecular ChaperonesMutationNeuronal Ceroid-LipofuscinosesSchizosaccharomycesSchizosaccharomyces pombe ProteinsBTN1 protein, S pombeCLN3 protein, humanMembrane GlycoproteinsMembrane ProteinsMolecular ChaperonesSchizosaccharomyces pombe Proteins

Identifiers

PMID33737578
PMCPMC7973434
OpenAlexW3136344575

What OpenQuestion holds

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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.