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Article

Pathological consequences of MICU1 mutations on mitochondrial calcium signalling and bioenergetics.

Biochimica et biophysica acta. Molecular cell research - 1 Jun 2017

Bhosale Gauri, Sharpe Jenny A, Koh Amanda, Kouli Antonina, Szabadkai Gyorgy, Duchen Michael R

Abstract excerpt

Loss of function mutations of the protein MICU1, a regulator of mitochondrial Ca2+ uptake, cause a neuronal and muscular disorder characterised by impaired cognition, muscle weakness and an extrapyramidal motor disorder. We have shown previously that MICU1 mutations cause increased resting mitochondrial Ca2+ concentration ([Ca2+]m). We now explore the functional consequences of MICU1 mutations in patient derived...

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Identifiers

PMID: 28132899
DOI: 10.1016/j.bbamcr.2017.01.015
PMCID: PMC5424885

Genes

MICU1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Pathological consequences of MICU1 mutations on mitochondrial calcium signalling and bioenergetics.PMID 28132899Read ↗

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.Semantic proximity Read ↗

Molecular pathophysiology of human MICU1 deficiencySemantic proximity Read ↗

Homozygous deletion in <i>MICU1</i> presenting with fatigue and lethargy in childhoodSemantic proximity Read ↗

MICU1 and MICU2 play nonredundant roles in the regulation of the mitochondrial calcium uniporter.Semantic proximity Read ↗

A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder.Semantic proximity Read ↗

Interaction of the mitochondrial calcium/proton exchanger TMBIM5 with MICU1Semantic proximity Read ↗

Bi-Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype-Phenotype Correlations From 61 Patients.Semantic proximity Read ↗

<i>SMDT1</i> variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvementSemantic proximity Read ↗

MCUR1–CCDC90B complex is a conserved mitochondrial scaffold regulating metabolic homeostasisSemantic proximity Read ↗

Biallelic <i>MCUR1</i> nonsense mutation associated with vacuolar myopathy and altered mitochondrial calcium signalingSemantic proximity Read ↗

The Wolfram-like variant WFS1 <sup>E864K</sup> destabilizes MAM and compromises autophagy and mitophagy in human and miceSemantic proximity Read ↗

Functional specialization of Ca2+-binding motifs in human MICU1.Semantic proximity Read ↗

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