Evidence map›Paper›PMID 32796538›Full record

ReviewJournal of clinical medicine2020

Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review.

Karolina M Stepien, Federico Roncaroli, Nadia Turton, Christian J Hendriksz, Mark Roberts, Robert A Heaton, Iain Hargreaves

Open access · goldAbstract readReview
In one paragraph

Review in Journal of clinical medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers.

0numbers the graph read from it
0cells of the map it votes in
80citing papers in PubMed
6.1field-weighted citation impact, top 3% 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

80 citing papers in PubMed, 96 citations in OpenAlex.

  1. Review
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  13. Pathogenic mechanisms in Fabry disease.Frontiers in medicine · 2026
    Review
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  19. A Common PD-RiskbioRxiv : the preprint server for biology · 2025
    Article
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20 more citing papers are in PubMed but not listed here.

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

7 authors at 3 institutions in 2 countries.

Karolina M StepienAdult Inherited Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford M6 8HD, UK.ORCID 0000-0003-0148-6332
Federico RoncaroliDivision of Neuroscience and Experimental Psychology, School of Biology, Medicine and Health, University of Manchester and Manchester Centre for Clinical Neuroscience, Salford Royal NHS Foundation Trust, Salford M6 8HD, UK.ORCID 0000-0003-3650-5572
Nadia TurtonSchool of Pharmacy, Liverpool John Moore University, Byrom Street, Liverpool L3 3AF, UK.
Christian J HendrikszPaediatrics and Child Health, Steve Biko Academic Unit, University of Pretoria, 0002 Pretoria, South Africa.ORCID 0000-0003-2179-3639
Mark RobertsNeurology Department, Salford Royal NHS Foundation Trust, Salford M6 8HD, UK.
Robert A HeatonSchool of Pharmacy, Liverpool John Moore University, Byrom Street, Liverpool L3 3AF, UK.
Iain HargreavesSchool of Pharmacy, Liverpool John Moore University, Byrom Street, Liverpool L3 3AF, UK.
Liverpool John Moores University · GBSalford Royal NHS Foundation Trust · GBUniversity of Pretoria · ZA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mitochondrial dysfunction is emerging as an important contributory factor to the pathophysiology of lysosomal storage disorders (LSDs). The cause of mitochondrial dysfunction in LSDs appears to be multifactorial, although impaired mitophagy and oxidative stress appear to be common inhibitory mechanisms shared amongst these heterogeneous disorders. Once impaired, dysfunctional mitochondria may impact upon the function of the lysosome by the generation of reactive oxygen species as well as depriving the lysosome of ATP which is required by the V-ATPase proton pump to maintain the acidity of the lumen. Given the reported evidence of mitochondrial dysfunction in LSDs together with the important symbiotic relationship between these two organelles, therapeutic strategies targeting both lysosome and mitochondrial dysfunction may be an important consideration in the treatment of LSDs. In this review we examine the putative mechanisms that may be responsible for mitochondrial dysfunction in reported LSDs which will be supplemented with morphological and clinical information.

Indexed as

autophagyinflammationlysosomal storage diseasesmitochondrial dysfunctionmitophagy and cytokineoxidative stressreactive oxygen species

Identifiers

PMID32796538
PMCPMC7463786
OpenAlexW3048630263

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.