Evidence map›Paper›PMID 33821292›Full record

ReviewCellular and molecular life sciences : CMLS2021

Revisiting the role of mitochondria in spinal muscular atrophy.

Rachel James, Helena Chaytow, Leire M Ledahawsky, Thomas H Gillingwater

Open access · hybridAbstract readReview
In one paragraph

Review in Cellular and molecular life sciences : CMLS, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed
3.8field-weighted citation impact, top 6% 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

32 citing papers in PubMed, 40 citations in OpenAlex.

  1. Pharmacological Activation of NRF2 by Omaveloxolone Upregulates NRF2-Target Proteins in SMA Type I Human Fibroblasts.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026
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  19. Mitochondrial Inherited Disorders and their Correlation with Neurodegenerative Diseases.Endocrine, metabolic & immune disorders drug targets · 2024
    Review
  20. Molecular Mechanisms of Medicinal PlantCurrent pharmaceutical design · 2024
    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

4 authors at 2 institutions in 1 country.

Rachel JamesEdinburgh Medical School: Biomedical Sciences, University of Edinburgh, Edinburgh, EH8 9XD, UK.
Helena ChaytowEdinburgh Medical School: Biomedical Sciences, University of Edinburgh, Edinburgh, EH8 9XD, UK.
Leire M LedahawskyEdinburgh Medical School: Biomedical Sciences, University of Edinburgh, Edinburgh, EH8 9XD, UK.
Thomas H GillingwaterEdinburgh Medical School: Biomedical Sciences, University of Edinburgh, Edinburgh, EH8 9XD, UK. t.gillingwater@ed.ac.uk.ORCID http://orcid.org/0000-0002-0306-5577
Mott MacDonald (United Kingdom) · GBUniversity of Edinburgh · GB

Funding

Daphne Jackson Trust FellowshipMedical Research Council Precision Medicine PhD StudentshipMy Name'5 Doddie Foundation Project Grant
6 · The paper itself

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease of variable clinical severity that is caused by mutations in the survival motor neuron 1 (SMN1) gene. Despite its name, SMN is a ubiquitous protein that functions within and outside the nervous system and has multiple cellular roles in transcription, translation, and proteostatic mechanisms. Encouragingly, several SMN-directed therapies have recently reached the clinic, albeit this has highlighted the increasing need to develop combinatorial therapies for SMA to achieve full clinical efficacy. As a subcellular site of dysfunction in SMA, mitochondria represents a relevant target for a combinatorial therapy. Accordingly, we will discuss our current understanding of mitochondrial dysfunction in SMA, highlighting mitochondrial-based pathways that offer further mechanistic insights into the involvement of mitochondria in SMA. This may ultimately facilitate translational development of targeted mitochondrial therapies for SMA. Due to clinical and mechanistic overlaps, such strategies may also benefit other motor neuron diseases and related neurodegenerative disorders.

Indexed as

AnimalsHumansMitochondriaMotor NeuronsMuscular Atrophy, SpinalMutationSignal TransductionSMN Complex ProteinsSMN Complex ProteinsCombinatorial therapyMitochondrial dysfunctionMitophagyMotor neuron diseaseNeurodegenerative disordersSurvival motor neuron

Identifiers

PMID33821292
PMCPMC8195803
OpenAlexW3144617888

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.