Evidence map›Paper›PMID 42191733›Full record

ArticleNature communications2026

Pathogenic variants in the autophagy-tethering factor EPG5 drive neurodegeneration through mitochondrial dysfunction and innate immune activation.

Kritarth Singh, Hormos Salimi Dafsari, Olivia Gillham, Haoyu Chi, Ivet Mandzhukova, Ioanna Kourouzidou, Preethi Sheshadri, Chih-Yao Chung, Valeria Pingitore, Fleur Vansenne and 6 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–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

1 citing paper in PubMed.

  1. 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

16 authors.

Kritarth Singh *Department of Cell and Developmental Biology and Consortium for Mitochondrial Research, University College London, Gower Street, London, UK.ORCID http://orcid.org/0000-0003-4072-6888
Hormos Salimi Dafsari *Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.ORCID http://orcid.org/0000-0003-3483-5009
Olivia GillhamDepartment of Cell and Developmental Biology and Consortium for Mitochondrial Research, University College London, Gower Street, London, UK.ORCID http://orcid.org/0000-0002-9799-8406
Haoyu ChiDepartment of Cell and Developmental Biology and Consortium for Mitochondrial Research, University College London, Gower Street, London, UK.ORCID http://orcid.org/0009-0008-8954-6240
Ivet MandzhukovaDepartment of Cell and Developmental Biology and Consortium for Mitochondrial Research, University College London, Gower Street, London, UK.
Ioanna KourouzidouDepartment of Cell and Developmental Biology and Consortium for Mitochondrial Research, University College London, Gower Street, London, UK.
Preethi SheshadriDepartment of Cell and Developmental Biology and Consortium for Mitochondrial Research, University College London, Gower Street, London, UK.
Chih-Yao ChungDepartment of Cell and Developmental Biology and Consortium for Mitochondrial Research, University College London, Gower Street, London, UK.ORCID http://orcid.org/0000-0002-2263-4181
Valeria PingitoreDepartment of Health and Biomedical Sciences, Universidad Loyola Andalucía, Seville, Spain.ORCID http://orcid.org/0009-0001-0997-9628
Fleur VansenneDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.ORCID http://orcid.org/0000-0002-0156-3417
David L SelwoodDrug Discovery, UCL Wolfson Institute for Biomedical Research, University College London, London, UK.ORCID http://orcid.org/0000-0002-6817-5064
Diana PendinNeuroscience Institute, National Research Council, Padua, Italy.ORCID http://orcid.org/0000-0003-2827-935X
Gyorgy SzabadkaiDepartment of Cell and Developmental Biology and Consortium for Mitochondrial Research, University College London, Gower Street, London, UK.ORCID http://orcid.org/0000-0002-3006-3577
Manolis FantoDepartment of Basic and Clinical Neuroscience, IoPPN, King's College London, London, UK.ORCID http://orcid.org/0000-0001-7807-2563
Heinz JungbluthDepartment of Paediatric Neurology, Evelina London Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.
Michael R DuchenDepartment of Cell and Developmental Biology and Consortium for Mitochondrial Research, University College London, Gower Street, London, UK. m.duchen@ucl.ac.uk.ORCID http://orcid.org/0000-0003-2548-4294

Funding

Action Medical Research (AMR) GN2959Great Ormond Street Hospital Charity (GOSH) V4218
6 · The paper itself

Abstract

The autophagy-tethering factor ectopic P-granule 5 autophagy protein (EPG5) plays a key role in autophagosome-lysosome fusion. Impaired autophagy associated with pathogenic variants in EPG5 causes a rare devastating multisystem disorder known as Vici syndrome, which features neurodevelopmental defects, severe progressive neurodegeneration and immunodeficiency. The pathophysiological mechanisms driving disease presentation and progression are only partially understood. In patient-derived fibroblasts and iPS cells differentiated to cortical neurons, we find that impaired mitophagy leads to mitochondrial bioenergetic dysfunction. Physiological cytosolic Ca

Indexed as

Immunity, InnateMitochondriaNeurodegenerative DiseasesAgenesis of Corpus CallosumAnimalsAutophagyCalciumCalcium-Binding ProteinsCataractcGAS-STING Signaling PathwayDNA, MitochondrialFibroblastsHumansMembrane Potential, MitochondrialMembrane ProteinsMitochondrial Membrane Transport ProteinsCalciumCalcium-Binding ProteinsDNA, MitochondrialMembrane ProteinsMitochondrial Membrane Transport ProteinsMitochondrial Permeability Transition PoreSTING Protein

Identifiers

PMID42191733
PMCPMC13388713

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.