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Cited by 369

The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.

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

Open access
UK10K Consortium, Logan, Clare V, Szabadkai, György, Sharpe, Jenny A, Parry, David A, Torelli, Silvia, Childs, Anne-Marie, Kriek, Marjolein, Phadke, Rahul, Johnson, Colin A, Roberts, Nicola Y, Bonthron, David T, Pysden, Karen A, Whyte, Tamieka, Munteanu, Iulia, Foley, A Reghan, Wheway, Gabrielle, Szymanska, Katarzyna, Natarajan, Subaashini, Abdelhamed, Zakia A, Morgan, Joanne E, Roper, Helen, Santen, Gijs W E, Niks, Erik H, van der Pol, W Ludo, Lindhout, Dick, Raffaello, Anna, De Stefani, Diego, den Dunnen, Johan T, Sun, Yu, Ginjaar, Ieke, Sewry, Caroline A, Hurles, Matthew, Rizzuto, Rosario, Duchen, Michael R, Muntoni, Francesco, Sheridan, Eamonn·2014·Nature Genetics
DOI 10.1038/ng.2851
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Abstract

Mitochondrial Ca2+ uptake has key roles in cell life and death. Physiological Ca2+ signaling regulates aerobic metabolism, whereas pathological Ca2+ overload triggers cell death. Mitochondrial Ca2+ uptake is mediated by the Ca2+ uniporter complex in the inner mitochondrial membrane, which comprises MCU, a Ca2+-selective ion channel, and its regulator, MICU1. Here we report mutations of MICU1 in individuals with a disease phenotype characterized by proximal myopathy, learning difficulties and a progressive extrapyramidal movement disorder. In fibroblasts from subjects with MICU1 mutations, agonist-induced mitochondrial Ca2+ uptake at low cytosolic Ca2+ concentrations was increased, and cytosolic Ca2+ signals were reduced. Although resting mitochondrial membrane potential was unchanged in MICU1-deficient cells, the mitochondrial network was severely fragmented. Whereas the pathophysiology of muscular dystrophy and the core myopathies involves abnormal mitochondrial Ca2+ handling, the phenotype associated with MICU1 deficiency is caused by a primary defect in mitochondrial Ca2+ signaling, demonstrating the crucial role of mitochondrial Ca2+ uptake in humans.

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Metadata

Authors
UK10K Consortium, Logan, C. V., Szabadkai, G., Sharpe, J. A., Parry, D. A., Torelli, S., Childs, A.-M., Kriek, M., Phadke, R., Johnson, C. A., Roberts, N. Y., Bonthron, D. T., Pysden, K. A., Whyte, T., Munteanu, I., Foley, A. R., Wheway, G., Szymanska, K., Natarajan, S., Abdelhamed, Z. A., Morgan, J. E., Roper, H., Santen, G. W. E., Niks, E. H., van der Pol, W. L., Lindhout, D., Raffaello, A., De Stefani, D., den Dunnen, J. T., Sun, Y., Ginjaar, I., Sewry, C. A., Hurles, M., Rizzuto, R., Duchen, M. R., Muntoni, F., & Sheridan, E.
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2013-12-15
Volume
46
Issue
2
Pages
188-193
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
DOI
10.1038/ng.2851
OpenAlex
W2084281549
Cited by
369
References
5
FWCI
9.68
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. https://app.cochat.ai/papers/10.1038/ng.2851
The paper
UK10K Consortium, Logan, C. V., Szabadkai, G., Sharpe, J. A., Parry, D. A., Torelli, S., Childs, A.-M., Kriek, M., Phadke, R., Johnson, C. A., Roberts, N. Y., Bonthron, D. T., Pysden, K. A., Whyte, T., Munteanu, I., Foley, A. R., Wheway, G., Szymanska, K., Natarajan, S., . . . Sheridan, E. (2014). Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nature Genetics. https://doi.org/10.1038/ng.2851

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.