Evidence map›Paper›PMID 23708095›Full record

ArticleInternational journal of molecular sciences2013

Loss of vps54 function leads to vesicle traffic impairment, protein mis-sorting and embryonic lethality.

Páll Karlsson, Aida Droce, Jakob M Moser, Simon Cuhlmann, Carolina Ortiz Padilla, Peter Heimann, Jörg W Bartsch, Annette Füchtbauer, Ernst-Martin Füchtbauer, Thomas Schmitt-John

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
1.8field-weighted citation impact, top 17% 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

20 citing papers in PubMed, 34 citations in OpenAlex.

  1. Article
  2. Article
  3. The endolysosomal pathway and ALS/FTD.Trends in neurosciences · 2023
    Review
  4. Proteomic profiling of the brain from theEuropean journal of translational myology · 2023
    Article
  5. Review
  6. Article
  7. Article
  8. Review
  9. Vps54 regulatesBiology open · 2020
    Article
  10. Mid-Gestation lethality ofInternational journal of molecular sciences · 2020
    Article
  11. Article
  12. Article
  13. Article
  14. Endocytic membrane trafficking and neurodegenerative disease.Cellular and molecular life sciences : CMLS · 2016
    Review
  15. Article
  16. Article
  17. VPS54 and the wobbler mouse.Frontiers in neuroscience · 2015
    Review
  18. Article
  19. Article
  20. 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

10 authors at 3 institutions in 2 countries.

Páll KarlssonMolecular Biology and Genetics Department, Aarhus University, Aarhus 8000, Denmark. tsj@mb.au.dk.
Aida Droce
Jakob M Moser
Simon Cuhlmann
Carolina Ortiz Padilla
Peter Heimann
Jörg W Bartsch
Annette Füchtbauer
Ernst-Martin Füchtbauer
Thomas Schmitt-John
Aarhus University · DKBielefeld University · DEPhilipps University of Marburg · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The identification of the mutation causing the phenotype of the amyotrophic lateral sclerosis (ALS) model mouse, wobbler, has linked motor neuron degeneration with retrograde vesicle traffic. The wobbler mutation affects protein stability of Vps54, a ubiquitously expressed vesicle-tethering factor and leads to partial loss of Vps54 function. Moreover, the Vps54 null mutation causes embryonic lethality, which is associated with extensive membrane blebbing in the neural tube and is most likely a consequence of impaired vesicle transport. Investigation of cells derived from wobbler and Vps54 null mutant embryos demonstrates impaired retrograde transport of the Cholera-toxin B subunit to the trans-Golgi network and mis-sorting of mannose-6-phosphate receptors and cargo proteins dependent on retrograde vesicle transport. Endocytosis assays demonstrate no difference between wobbler and wild type cells, indicating that the retrograde vesicle traffic to the trans-Golgi network, but not endocytosis, is affected in Vps54 mutant cells. The results obtained on wobbler cells were extended to test the use of cultured skin fibroblasts from human ALS patients to investigate the retrograde vesicle traffic. Analysis of skin fibroblasts of ALS patients will support the investigation of the critical role of the retrograde vesicle transport in ALS pathogenesis and might yield a diagnostic prospect.

Indexed as

AnimalsBlotting, WesternCathepsin BCell MembraneCholera ToxinEmbryo LossEmbryo, MammalianEndocytosisFibroblastsHumansMiceMice, Inbred C57BLMice, KnockoutMutationProtein TransportReceptor, IGF Type 2Cathepsin BCholera ToxinReceptor, IGF Type 2Vesicular Transport ProteinsVps54 protein, mouse

Identifiers

PMID23708095
PMCPMC3709709
OpenAlexW2043503002

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.