Evidence map›Paper›PMID 32820007›Full record

ArticleGenome research2020

LCM-seq reveals unique transcriptional adaptation mechanisms of resistant neurons and identifies protective pathways in spinal muscular atrophy.

Susanne Nichterwitz, Jik Nijssen, Helena Storvall, Christoph Schweingruber, Laura Helen Comley, Ilary Allodi, Mirjam van der Lee, Qiaolin Deng, Rickard Sandberg, Eva Hedlund

Open access · bronzeAbstract read
In one paragraph

Article in Genome research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

33 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.

  1. Pooled it
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  10. Application of Biomarkers in Spinal Muscular Atrophy.International journal of molecular sciences · 2025
    Review
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  12. Article
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  16. Editorial: Advances in spinal muscular atrophy.Frontiers in cellular neuroscience · 2023
    Article
  17. Article
  18. Article
  19. Article
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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 1 institution in 1 country.

Susanne NichterwitzDepartment of Neuroscience, Karolinska Institutet, 171 77 Stockholm, Sweden.ORCID 0000-0002-9950-5003
Jik Nijssen *Department of Neuroscience, Karolinska Institutet, 171 77 Stockholm, Sweden.ORCID 0000-0003-0013-9750
Helena Storvall *Department of Cell and Molecular Biology, Karolinska Institutet, 171 77 Stockholm, Sweden.
Christoph SchweingruberDepartment of Neuroscience, Karolinska Institutet, 171 77 Stockholm, Sweden.ORCID 0000-0003-4505-9068
Laura Helen ComleyDepartment of Neuroscience, Karolinska Institutet, 171 77 Stockholm, Sweden.ORCID 0000-0001-8282-8909
Ilary AllodiDepartment of Neuroscience, Karolinska Institutet, 171 77 Stockholm, Sweden.ORCID 0000-0003-4361-163X
Mirjam van der LeeDepartment of Neuroscience, Karolinska Institutet, 171 77 Stockholm, Sweden.
Qiaolin DengLudwig Institute for Cancer Research, Karolinska Institutet, 171 77 Stockholm, Sweden.
Rickard SandbergDepartment of Cell and Molecular Biology, Karolinska Institutet, 171 77 Stockholm, Sweden.ORCID 0000-0001-6473-1740
Eva HedlundDepartment of Neuroscience, Karolinska Institutet, 171 77 Stockholm, Sweden.ORCID 0000-0001-6347-0075
Karolinska Institutet · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Somatic motor neurons are selectively vulnerable in spinal muscular atrophy (SMA), which is caused by a deficiency of the ubiquitously expressed survival of motor neuron protein. However, some motor neuron groups, including oculomotor and trochlear (ocular), which innervate eye muscles, are for unknown reasons spared. To reveal mechanisms of vulnerability and resistance in SMA, we investigate the transcriptional dynamics in discrete neuronal populations using laser capture microdissection coupled with RNA sequencing (LCM-seq). Using gene correlation network analysis, we reveal a TRP53-mediated stress response that is intrinsic to all somatic motor neurons independent of their vulnerability, but absent in relatively resistant red nucleus and visceral motor neurons. However, the temporal and spatial expression analysis across neuron types shows that the majority of SMA-induced modulations are cell type-specific. Using Gene Ontology and protein network analyses, we show that ocular motor neurons present unique disease-adaptation mechanisms that could explain their resilience. Specifically, ocular motor neurons up-regulate (1)

Indexed as

Adaptation, PhysiologicalAnimalsCells, CulturedDisease Models, AnimalEyeGenetic Predisposition to DiseaseGrowth Differentiation Factor 15Laser Capture MicrodissectionMiceMice, KnockoutMotor CortexMotor NeuronsMuscular Atrophy, SpinalNeuroprotectionSequence Analysis, RNASurvival of Motor Neuron 1 ProteinGdf15 protein, mouseGrowth Differentiation Factor 15Smn1 protein, mouseSMN2 protein, mouseSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 ProteinTrp53 protein, mouseTumor Suppressor Protein p53

Identifiers

PMID32820007
PMCPMC7462070
OpenAlexW3080705618

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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.