Evidence map›Paper›PMID 42087238›Full record

ArticleActa neuropathologica communications2026

Biallelic MCUR1 nonsense mutation associated with vacuolar myopathy and altered mitochondrial calcium signaling.

Anna Maria Haschke, Anja von Renesse, Eugenio Graceffo, Susanne Morales-Gonzalez, Alessandro Prigione, Christoph Hübner, Werner Stenzel, Markus Schuelke

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In one paragraph

Article in Acta neuropathologica communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

8 authors.

Anna Maria HaschkeCharité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, NeuroCure Cluster of Excellence, 10117, Berlin, Germany.ORCID 0000-0002-7629-0724
Anja von RenesseDepartment of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, Augustenburger Platz 1, 13353, Berlin, Germany.
Eugenio GraceffoCharité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, NeuroCure Cluster of Excellence, 10117, Berlin, Germany.ORCID 0000-0001-8316-1069
Susanne Morales-GonzalezCharité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, NeuroCure Cluster of Excellence, 10117, Berlin, Germany.ORCID 0000-0001-7279-2092
Alessandro PrigioneDepartment of General Pediatrics, Neonatology and Pediatric Cardiology, University Hospital Düsseldorf, Heinrich Heine University, 40225, Düsseldorf, Germany.ORCID 0000-0001-9457-1952
Christoph HübnerDepartment of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, Augustenburger Platz 1, 13353, Berlin, Germany.
Werner StenzelBerlin Institute of Health, Institute of Neuropathology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Charité-Universitätsmedizin Berlin, 10117, Berlin, Germany.ORCID 0000-0002-1143-2103
Markus SchuelkeCharité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, NeuroCure Cluster of Excellence, 10117, Berlin, Germany. markus.schuelke@charite.de.ORCID 0000-0003-2824-3891

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

During muscle contraction, increased influx of calcium from the myocyte cytosol into the mitochondrial matrix through the mitochondrial calcium uniporter (MCU) links calcium homeostasis with high ATP provision. The MCU is located at the inner mitochondrial membrane and one of its structural components, the mitochondrial calcium uniporter regulator 1 (MCUR1), promotes its activity. Although MCUR1 function has been studied in cell models, mutations have not yet been associated with human disease. Here, we present a patient with proximal muscle weakness and atrophy, showing histological features of autophagic vacuoles with sarcolemmal features, who carries a homozygous MCUR1 nonsense mutation. To investigate the underlying mechanisms of muscle pathology, we examined patient fibroblasts and quadriceps muscle specimens. MCUR1 deficiency compromised mtCa

Indexed as

Calcium ChannelsCalcium SignalingCodon, NonsenseMitochondriaMuscular DiseasesAutophagyCalciumFibroblastsHumansLysosomal Storage DiseasesMembrane Potential, MitochondrialMuscle, SkeletalCalciumCalcium ChannelsCodon, Nonsensemitochondrial calcium uniporterAutophagic vacuolesCalcium transportMitochondrial calcium uniporterMitochondriumVacuolar myopathy

Identifiers

PMID42087238
PMCPMC13162457

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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.