Evidence map›Paper›PMID 32938453›Full record

ArticleBMC biology2020

Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophy.

Melissa B Walsh, Eva Janzen, Emily Wingrove, Seyyedmohsen Hosseinibarkooie, Natalia Rodriguez Muela, Lance Davidow, Maria Dimitriadi, Erika M Norabuena, Lee L Rubin, Brunhilde Wirth and 1 more

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

Article in BMC biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
1.7field-weighted citation impact, top 15% 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

17 citing papers in PubMed, 21 citations in OpenAlex.

  1. Spinal muscular atrophy: Biology, pathogenesis, and therapeutic advances.Therapeutic advances in neurological disorders · 2026
    Review
  2. Review
  3. Rekindling Vision: Innovative Strategies for Treating Retinal Degeneration.International journal of molecular sciences · 2025
    Review
  4. Article
  5. Review
  6. In Search of Spinal Muscular Atrophy Disease Modifiers.International journal of molecular sciences · 2024
    Review
  7. Review
  8. Article
  9. Review
  10. Long-TermInternational journal of molecular sciences · 2023
    Article
  11. Review
  12. Review
  13. Mitochondrial Dysfunction in Spinal Muscular Atrophy.International journal of molecular sciences · 2022
    Review
  14. Review
  15. Review
  16. Plastin 3 in health and disease: a matter of balance.Cellular and molecular life sciences : CMLS · 2021
    Review
  17. microPublication biology · 2021
    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 5 institutions in 3 countries.

Melissa B WalshDepartment of Neuroscience, Brown University, 185 Meeting Street, Mailbox GL-N, Providence, RI, 02912, USA.
Eva JanzenInstitute of Human Genetics, Center for Molecular Medicine Cologne, Institute of Genetics, and Center for Rare Disorders, University of Cologne, Cologne, Germany.
Emily WingroveDepartment of Neuroscience, Brown University, 185 Meeting Street, Mailbox GL-N, Providence, RI, 02912, USA.
Seyyedmohsen HosseinibarkooieInstitute of Human Genetics, Center for Molecular Medicine Cologne, Institute of Genetics, and Center for Rare Disorders, University of Cologne, Cologne, Germany.
Natalia Rodriguez MuelaDepartment of Stem Cell & Regenerative Biology, Harvard University, Cambridge, MA, 02138, USA.
Lance DavidowDepartment of Stem Cell & Regenerative Biology, Harvard University, Cambridge, MA, 02138, USA.
Maria DimitriadiDepartment of Biological and Environmental Sciences, University of Hertfordshire, Hertfordshire, UK.
Erika M NorabuenaDepartment of Stem Cell & Regenerative Biology, Harvard University, Cambridge, MA, 02138, USA.
Lee L RubinDepartment of Stem Cell & Regenerative Biology, Harvard University, Cambridge, MA, 02138, USA.
Brunhilde WirthInstitute of Human Genetics, Center for Molecular Medicine Cologne, Institute of Genetics, and Center for Rare Disorders, University of Cologne, Cologne, Germany.
Anne C HartDepartment of Neuroscience, Brown University, 185 Meeting Street, Mailbox GL-N, Providence, RI, 02912, USA. anne_hart@brown.edu.ORCID 0000-0001-7239-4350
Harvard University · USUniversity of Cologne · DEBrown University · USJohn Brown University · USUniversity of Hertfordshire · GB

Funding

Enhancing and expanding the CGC Strain CollectionP40OD010440 · OD · UNIVERSITY OF MINNESOTA · PI Ann E. Rougvie · 2012 to 2026
$7.5M
Center for Molecular Medicine Cologne C16Deutsche Forschungsgemeinschaft RTG 1960Deutsche Forschungsgemeinschaft WI-945/16-1Deutsche Forschungsgemeinschaft WI 945/17-1Deutsche Forschungsgemeinschaft WI-945/18-1NIH HHS P40 OD010440NINDS NIH HHS P01 N5066888ODCDC CDC HHS P40 OD010440
6 · The paper itself

Abstract

backgroundUnderstanding the genetic modifiers of neurodegenerative diseases can provide insight into the mechanisms underlying these disorders. Here, we examine the relationship between the motor neuron disease spinal muscular atrophy (SMA), which is caused by reduced levels of the survival of motor neuron (SMN) protein, and the actin-bundling protein Plastin 3 (PLS3). Increased PLS3 levels suppress symptoms in a subset of SMA patients and ameliorate defects in SMA disease models, but the functional connection between PLS3 and SMN is poorly understood.

resultsWe provide immunohistochemical and biochemical evidence for large protein complexes localized in vertebrate motor neuron processes that contain PLS3, SMN, and members of the hnRNP F/H family of proteins. Using a Caenorhabditis elegans (C. elegans) SMA model, we determine that overexpression of PLS3 or loss of the C. elegans hnRNP F/H ortholog SYM-2 enhances endocytic function and ameliorates neuromuscular defects caused by decreased SMN-1 levels. Furthermore, either increasing PLS3 or decreasing SYM-2 levels suppresses defects in a C. elegans ALS model.

conclusionsWe propose that hnRNP F/H act in the same protein complex as PLS3 and SMN and that the function of this complex is critical for endocytic pathways, suggesting that hnRNP F/H proteins could be potential targets for therapy development.

Indexed as

AnimalsAnimals, Genetically ModifiedCaenorhabditis elegansCaenorhabditis elegans ProteinsDisease Models, AnimalEndocytosisMembrane GlycoproteinsMicrofilament ProteinsMuscular Atrophy, SpinalRNA-Binding ProteinsSurvival of Motor Neuron 1 ProteinCaenorhabditis elegans ProteinsMembrane GlycoproteinsMicrofilament ProteinsplastinRNA-Binding ProteinsSMN1 protein, humanSurvival of Motor Neuron 1 ProteinSYM-2 protein, C elegansEndocytosishnRNPNeurodegenerative diseasePLS3SMASMN

Identifiers

PMID32938453
PMCPMC7495824
OpenAlexW3087321818

What Socratic 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 Socratic graph.