Article

Biallelic <i>MCUR1</i> nonsense mutation associated with vacuolar myopathy and altered mitochondrial calcium signaling

2025-10-24

Abstract excerpt

During muscle contraction, increased influx of mitochondrial calcium (mtCa²⁺) from the myocyte cytosol through the mitochondrial calcium uniporter (MCU) couples calcium homeostasis with high ATP provision. The mitochondrial calcium uniporter regulator 1 (MCUR1) is an integral membrane protein that promotes MCU activity. Although its function has been studied in cell models, mutations in MCUR1 have not yet been ass...

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Literature Corpus work: 99cc2c3a-ac11-5e01-b753-dc01ecd1c5ca
DOI: 10.1101/2025.10.17.25338070

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