ArticleJIMD reports2020
Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1.
Article in JIMD reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 28 citations in OpenAlex.
- Asymmetric distribution of mitochondrial CaExperimental & molecular medicine · 2026Article
- MICU2 controls mitochondrial calcium signaling and migration in neurons during development.Cell reports · 2025Article
- MICU1 myopathy revisited: phenotypic variability in a rare mitochondrial calcium disorder.Acta neurologica Belgica · 2025Article
- The roles of mitochondria in global and local intracellular calcium signalling.Nature reviews. Molecular cell biology · 2025Review
- TMEM65 regulates and is required for NCLX-dependent mitochondrial calcium efflux.Nature metabolism · 2025Article
- Compound heterozygous mutations inFrontiers in neurology · 2025Article
- Calcium signaling in mitochondrial intermembrane space.Biochemical Society transactions · 2024Review
- Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review.Molecular genetics and metabolism reports · 2024Review
- MICU1's calcium sensing beyond mitochondrial calcium uptake.Biochimica et biophysica acta. Molecular cell research · 2024Review
- Nanoenabled Intracellular Metal Ion Homeostasis Regulation for Tumor Therapy.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Review
- Dolichocephaly, Arachnodactyly, Diplopia, and Distal Myopathy - Novel Phenotype of MICU1 Variant c.553C>T.Cureus · 2024Article
- MeCP2 dysfunction prevents proper BMP signaling and neural progenitor expansion in brain organoid.Annals of clinical and translational neurology · 2023Article
- Neuronal loss of NCLX-dependent mitochondrial calcium efflux mediates age-associated cognitive decline.iScience · 2023Article
- Preserving and enhancing mitochondrial function after stroke to protect and repair the neurovascular unit: novel opportunities for nanoparticle-based drug delivery.Frontiers in cellular neuroscience · 2023Review
- Post-translational modifications and protein quality control of mitochondrial channels and transporters.Frontiers in cell and developmental biology · 2023Review
- SGPL1 stimulates VPS39 recruitment to the mitochondria in MICU1 deficient cells.Molecular metabolism · 2022Article
- Mitochondrial calcium exchange in physiology and disease.Physiological reviews · 2022Review
- Uncontrolled mitochondrial calcium uptake underlies the pathogenesis of neurodegeneration in MICU1-deficient mice and patients.Science advances · 2022Article
- Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon ofFrontiers in neurology · 2022Article
- Mitochondria-Associated Membrane Scaffolding with Endoplasmic Reticulum: A Dynamic Pathway of Developmental Disease.Frontiers in molecular biosciences · 2022Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mitochondria play a variety of roles in the cell, far beyond their widely recognized role in ATP generation. One such role is the regulation and sequestration of calcium, which is done with the help of the mitochondrial calcium uniporter (MCU) and its regulators, MICU1 and MICU2. Genetic variations in MICU1 and MICU2 have been reported to cause myopathy, developmental disability and neurological symptoms typical of mitochondrial disorders. The symptoms of MICU1/2 deficiency have generally been attributed to calcium regulation in the metabolic and biochemical roles of mitochondria. Here, we report a female child with heterozygous MICU1 variants and multiple congenital brain malformations on MRI. Specifically, she shows anterior perisylvian polymicrogyria, dysmorphic basal ganglia, and cerebellar dysplasia in addition to white matter abnormalities. These novel findings suggest that MICU1 is necessary for proper neurodevelopment through a variety of potential mechanisms, including calcium-mediated regulation of the neuronal cytoskeleton, Miro1-MCU complex-mediated mitochondrial movement, or enhancing ATP production. This case provides new insight into the molecular pathogenesis of MCU dysfunction and may represent a novel diagnostic feature of calcium-based mitochondrial disease.
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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.