Evidence map›Paper›PMID 35440492›Full record

ArticleLife science alliance2022

SMN-deficient cells exhibit increased ribosomal DNA damage.

Evangelia Karyka, Nelly Berrueta Ramirez, Christopher P Webster, Paolo M Marchi, Emily J Graves, Vinay K Godena, Lara Marrone, Anushka Bhargava, Swagat Ray, Ke Ning and 4 more

Open access · goldAbstract read
In one paragraph

Article in Life science alliance, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
2.1field-weighted citation impact, top 12% 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

9 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Ribosomal DNA and Neurological Disorders.Current molecular medicine · 2025
    Review
  5. In Search of Spinal Muscular Atrophy Disease Modifiers.International journal of molecular sciences · 2024
    Review
  6. Review
  7. Article
  8. Review
  9. 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

14 authors at 3 institutions in 1 country.

Evangelia KarykaThe Healthy Lifespan Institute and Neuroscience Institute, Neurodegeneration and Genome Stability Group, University of Sheffield, Sheffield, UK.
Nelly Berrueta RamirezThe Healthy Lifespan Institute and Neuroscience Institute, Neurodegeneration and Genome Stability Group, University of Sheffield, Sheffield, UK.
Christopher P WebsterThe Healthy Lifespan Institute and Neuroscience Institute, Neurodegeneration and Genome Stability Group, University of Sheffield, Sheffield, UK.ORCID 0000-0003-4197-2036
Paolo M MarchiThe Healthy Lifespan Institute and Neuroscience Institute, Neurodegeneration and Genome Stability Group, University of Sheffield, Sheffield, UK.ORCID 0000-0002-8893-3790
Emily J GravesThe Healthy Lifespan Institute and Neuroscience Institute, Neurodegeneration and Genome Stability Group, University of Sheffield, Sheffield, UK.
Vinay K GodenaSheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.
Lara MarroneSheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.
Anushka BhargavaSheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.
Swagat RayDepartment of Molecular Biology and Biotechnology, The Institute of Neuroscience and the Healthy Lifespan Institute, School of Bioscience, Firth Court, University of Sheffield, Sheffield, UK.ORCID 0000-0001-8034-7706
Ke NingThe Healthy Lifespan Institute and Neuroscience Institute, Neurodegeneration and Genome Stability Group, University of Sheffield, Sheffield, UK.ORCID 0000-0002-0771-1134
Hannah CraneDepartment of Molecular Biology and Biotechnology, The Institute of Neuroscience and the Healthy Lifespan Institute, School of Bioscience, Firth Court, University of Sheffield, Sheffield, UK.
Guillaume M HautbergueThe Healthy Lifespan Institute and Neuroscience Institute, Neurodegeneration and Genome Stability Group, University of Sheffield, Sheffield, UK.ORCID 0000-0002-1621-261X
Sherif F El-KhamisyThe Healthy Lifespan Institute and Neuroscience Institute, Neurodegeneration and Genome Stability Group, University of Sheffield, Sheffield, UK m.azzouz@sheffield.ac.uk s.el-khamisy@sheffield.ac.uk.ORCID 0000-0003-2721-7763
Mimoun AzzouzThe Healthy Lifespan Institute and Neuroscience Institute, Neurodegeneration and Genome Stability Group, University of Sheffield, Sheffield, UK m.azzouz@sheffield.ac.uk s.el-khamisy@sheffield.ac.uk.ORCID 0000-0001-6564-5967
University of Sheffield · GBUniversity of Bradford · GBUniversity of Lincoln · GB

Funding

European Research Council 294745Medical Research Council MR/G1001492Medical Research Council MR/N004272/1Medical Research Council MR/V000470/1
6 · The paper itself

Abstract

Spinal muscular atrophy, the leading genetic cause of infant mortality, is a motor neuron disease caused by low levels of survival motor neuron (SMN) protein. SMN is a multifunctional protein that is implicated in numerous cytoplasmic and nuclear processes. Recently, increasing attention is being paid to the role of SMN in the maintenance of DNA integrity. DNA damage and genome instability have been linked to a range of neurodegenerative diseases. The ribosomal DNA (rDNA) represents a particularly unstable locus undergoing frequent breakage. Instability in rDNA has been associated with cancer, premature ageing syndromes, and a number of neurodegenerative disorders. Here, we report that SMN-deficient cells exhibit increased rDNA damage leading to impaired ribosomal RNA synthesis and translation. We also unravel an interaction between SMN and RNA polymerase I. Moreover, we uncover an spinal muscular atrophy motor neuron-specific deficiency of DDX21 protein, which is required for resolving R-loops in the nucleolus. Taken together, our findings suggest a new role of SMN in rDNA integrity.

Indexed as

Motor NeuronsMuscular Atrophy, SpinalDEAD-box RNA HelicasesDNA DamageDNA, RibosomalHumansInfantRibosomesDDX21 protein, humanDEAD-box RNA HelicasesDNA, Ribosomal

Identifiers

PMID35440492
PMCPMC9018017
OpenAlexW4224243667

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.