{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T01:16:07Z","timestamp":1790817367110,"version":"4.1.0"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2013,12,15]],"date-time":"2013-12-15T00:00:00Z","timestamp":1387065600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2014,2]]},"DOI":"10.1038\/ng.2851","type":"journal-article","created":{"date-parts":[[2013,12,15]],"date-time":"2013-12-15T17:01:00Z","timestamp":1387126860000},"page":"188-193","source":"Crossref","is-referenced-by-count":359,"title":["Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling"],"prefix":"10.1038","volume":"46","author":[{"name":"UK10K Consortium","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4323-1602","authenticated-orcid":false,"given":"Clare V","family":"Logan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gy\u00f6rgy","family":"Szabadkai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny A","family":"Sharpe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0376-7736","authenticated-orcid":false,"given":"David A","family":"Parry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Torelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Marie","family":"Childs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjolein","family":"Kriek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahul","family":"Phadke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin A","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola Y","family":"Roberts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David T","family":"Bonthron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen A","family":"Pysden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamieka","family":"Whyte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iulia","family":"Munteanu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A Reghan","family":"Foley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabrielle","family":"Wheway","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarzyna","family":"Szymanska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Subaashini","family":"Natarajan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zakia A","family":"Abdelhamed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanne E","family":"Morgan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Roper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gijs W E","family":"Santen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5892-5143","authenticated-orcid":false,"given":"Erik H","family":"Niks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W Ludo","family":"van der Pol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9580-624X","authenticated-orcid":false,"given":"Dick","family":"Lindhout","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Raffaello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3796-8907","authenticated-orcid":false,"given":"Diego","family":"De Stefani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johan T","family":"den Dunnen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ieke","family":"Ginjaar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline A","family":"Sewry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Hurles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosario","family":"Rizzuto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2548-4294","authenticated-orcid":false,"given":"Michael R","family":"Duchen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eamonn","family":"Sheridan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,12,15]]},"reference":[{"key":"BFng2851_CR1","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1038\/nature10230","volume":"476","author":"D De Stefani","year":"2011","unstructured":"De Stefani, D., Raffaello, A., Teardo, E., Szabo, I. & Rizzuto, R. A forty-kilodalton protein of the inner membrane is the mitochondrial calcium uniporter. Nature 476, 336\u2013340 (2011).","journal-title":"Nature"},{"key":"BFng2851_CR2","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1038\/nature09358","volume":"467","author":"F Perocchi","year":"2010","unstructured":"Perocchi, F. et al. MICU1 encodes a mitochondrial EF hand protein required for Ca2+ uptake. Nature 467, 291\u2013296 (2010).","journal-title":"Nature"},{"key":"BFng2851_CR3","doi-asserted-by":"publisher","first-page":"442","DOI":"10.1038\/nm1736","volume":"14","author":"DP Millay","year":"2008","unstructured":"Millay, D.P. et al. Genetic and pharmacologic inhibition of mitochondrial-dependent necrosis attenuates muscular dystrophy. Nat. Med. 14, 442\u2013447 (2008).","journal-title":"Nat. Med."},{"key":"BFng2851_CR4","doi-asserted-by":"publisher","first-page":"21996","DOI":"10.1073\/pnas.0911496106","volume":"106","author":"S Boncompagni","year":"2009","unstructured":"Boncompagni, S. et al. Characterization and temporal development of cores in a mouse model of malignant hyperthermia. Proc. Natl. Acad. Sci. USA 106, 21996\u201322001 (2009).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng2851_CR5","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1042\/bse0470115","volume":"47","author":"MR Duchen","year":"2010","unstructured":"Duchen, M.R. & Szabadkai, G. Roles of mitochondria in human disease. Essays Biochem. 47, 115\u2013137 (2010).","journal-title":"Essays Biochem."},{"key":"BFng2851_CR6","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1152\/physrev.1990.70.2.391","volume":"70","author":"JG McCormack","year":"1990","unstructured":"McCormack, J.G., Halestrap, A.P. & Denton, R.M. Role of calcium ions in regulation of mammalian intramitochondrial metabolism. Physiol. Rev. 70, 391\u2013425 (1990).","journal-title":"Physiol. Rev."},{"key":"BFng2851_CR7","first-page":"84","volume":"23","author":"G Szabadkai","year":"2008","unstructured":"Szabadkai, G. & Duchen, M.R. Mitochondria: the hub of cellular Ca2+ signaling. Physiology (Bethesda) 23, 84\u201394 (2008).","journal-title":"Physiology (Bethesda)"},{"key":"BFng2851_CR8","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1152\/physrev.00004.2005","volume":"86","author":"R Rizzuto","year":"2006","unstructured":"Rizzuto, R. & Pozzan, T. Microdomains of intracellular Ca2+: molecular determinants and functional consequences. Physiol. Rev. 86, 369\u2013408 (2006).","journal-title":"Physiol. Rev."},{"key":"BFng2851_CR9","doi-asserted-by":"publisher","first-page":"1267","DOI":"10.1038\/sj.cdd.4402147","volume":"14","author":"M Giacomello","year":"2007","unstructured":"Giacomello, M., Drago, I., Pizzo, P. & Pozzan, T. Mitochondrial Ca2+ as a key regulator of cell life and death. Cell Death Differ. 14, 1267\u20131274 (2007).","journal-title":"Cell Death Differ."},{"key":"BFng2851_CR10","doi-asserted-by":"publisher","first-page":"976","DOI":"10.1016\/j.cmet.2013.04.020","volume":"17","author":"G Csord\u00e1s","year":"2013","unstructured":"Csord\u00e1s, G. et al. MICU1 controls both the threshold and cooperative activation of the mitochondrial Ca2+ uniporter. Cell Metab. 17, 976\u2013987 (2013).","journal-title":"Cell Metab."},{"key":"BFng2851_CR11","doi-asserted-by":"publisher","first-page":"e55785","DOI":"10.1371\/journal.pone.0055785","volume":"8","author":"M Plovanich","year":"2013","unstructured":"Plovanich, M. et al. MICU2, a paralog of MICU1, resides within the mitochondrial uniporter complex to regulate calcium handling. PLoS ONE 8, e55785 (2013).","journal-title":"PLoS ONE"},{"key":"BFng2851_CR12","doi-asserted-by":"publisher","first-page":"630","DOI":"10.1016\/j.cell.2012.10.011","volume":"151","author":"K Mallilankaraman","year":"2012","unstructured":"Mallilankaraman, K. et al. MICU1 is an essential gatekeeper for MCU-mediated mitochondrial Ca2+ uptake that regulates cell survival. Cell 151, 630\u2013644 (2012).","journal-title":"Cell"},{"key":"BFng2851_CR13","doi-asserted-by":"publisher","first-page":"341","DOI":"10.1038\/nature10234","volume":"476","author":"JM Baughman","year":"2011","unstructured":"Baughman, J.M. et al. Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter. Nature 476, 341\u2013345 (2011).","journal-title":"Nature"},{"key":"BFng2851_CR14","doi-asserted-by":"publisher","first-page":"960","DOI":"10.1002\/humu.20974","volume":"30","author":"IM Carr","year":"2009","unstructured":"Carr, I.M., Sheridan, E., Hayward, B.E., Markham, A.F. & Bonthron, D.T. IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease. Hum. Mutat. 30, 960\u2013967 (2009).","journal-title":"Hum. Mutat."},{"key":"BFng2851_CR15","doi-asserted-by":"publisher","first-page":"354","DOI":"10.1016\/j.ajhg.2013.01.016","volume":"92","author":"E Stevens","year":"2013","unstructured":"Stevens, E. et al. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of \u03b1-dystroglycan. Am. J. Hum. Genet. 92, 354\u2013365 (2013).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng2851_CR16","doi-asserted-by":"publisher","first-page":"2777","DOI":"10.1073\/pnas.1100735108","volume":"108","author":"E Zampese","year":"2011","unstructured":"Zampese, E. et al. Presenilin 2 modulates endoplasmic reticulum (ER)-mitochondria interactions and Ca2+ cross-talk. Proc. Natl. Acad. Sci. USA 108, 2777\u20132782 (2011).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng2851_CR17","doi-asserted-by":"publisher","first-page":"641","DOI":"10.1016\/j.molcel.2008.11.014","volume":"32","author":"M Chami","year":"2008","unstructured":"Chami, M. et al. Role of SERCA1 truncated isoform in the proapoptotic calcium transfer from ER to mitochondria during ER stress. Mol. Cell 32, 641\u2013651 (2008).","journal-title":"Mol. Cell"},{"key":"BFng2851_CR18","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1016\/j.bbamcr.2004.09.015","volume":"1742","author":"K Bianchi","year":"2004","unstructured":"Bianchi, K., Rimessi, A., Prandini, A., Szabadkai, G. & Rizzuto, R. Calcium and mitochondria: mechanisms and functions of a troubled relationship. Biochim. Biophys. Acta 1742, 119\u2013131 (2004).","journal-title":"Biochim. Biophys. Acta"},{"key":"BFng2851_CR19","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1054\/ceca.2001.0238","volume":"30","author":"AA Gerencs\u00e9r","year":"2001","unstructured":"Gerencs\u00e9r, A.A. & Adam-Vizi, V. Selective, high-resolution fluorescence imaging of mitochondrial Ca2+ concentration. Cell Calcium 30, 311\u2013321 (2001).","journal-title":"Cell Calcium"},{"key":"BFng2851_CR20","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1016\/j.mce.2003.11.004","volume":"215","author":"A Sp\u00e4t","year":"2004","unstructured":"Sp\u00e4t, A. & Pitter, J.G. The effect of cytoplasmic Ca2+ signal on the redox state of mitochondrial pyridine nucleotides. Mol. Cell Endocrinol. 215, 115\u2013118 (2004).","journal-title":"Mol. Cell Endocrinol."},{"key":"BFng2851_CR21","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1038\/ng1270","volume":"35","author":"WA Irwin","year":"2003","unstructured":"Irwin, W.A. et al. Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. Nat. Genet. 35, 367\u2013371 (2003).","journal-title":"Nat. Genet."},{"key":"BFng2851_CR22","unstructured":"Dubowitz, V., Sewry, C.A. & Oldfors, A. Muscle Biopsy: A Practical Approach 4th edn. (Saunders, Philadelphia, 2013)."},{"key":"BFng2851_CR23","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna, A. et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297\u20131303 (2010).","journal-title":"Genome Res."},{"key":"BFng2851_CR24","first-page":"365","volume":"132","author":"S Rozen","year":"2000","unstructured":"Rozen, S. & Skaletsky, H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol. Biol. 132, 365\u2013386 (2000).","journal-title":"Methods Mol. Biol."},{"key":"BFng2851_CR25","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1093\/hmg\/ddl459","volume":"16","author":"HR Dawe","year":"2007","unstructured":"Dawe, H.R. et al. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum. Mol. Genet. 16, 173\u2013186 (2007).","journal-title":"Hum. Mol. Genet."},{"key":"BFng2851_CR26","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1111\/j.1365-2818.2006.01706.x","volume":"224","author":"S Bolte","year":"2006","unstructured":"Bolte, S. & Cordelieres, F.P. A guided tour into subcellular colocalization analysis in light microscopy. J. Microsc. 224, 213\u2013232 (2006).","journal-title":"J. Microsc."},{"key":"BFng2851_CR27","doi-asserted-by":"publisher","first-page":"650","DOI":"10.1038\/cdd.2011.139","volume":"19","author":"J Traba","year":"2012","unstructured":"Traba, J., Del Arco, A., Duchen, M.R., Szabadkai, G. & Satrustegui, J. SCaMC-1 promotes cancer cell survival by desensitizing mitochondrial permeability transition via ATP\/ADP-mediated matrix Ca2+ buffering. Cell Death Differ. 19, 650\u2013660 (2012).","journal-title":"Cell Death Differ."},{"key":"BFng2851_CR28","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1038\/nature12354","volume":"499","author":"TW Chen","year":"2013","unstructured":"Chen, T.W. et al. Ultrasensitive fluorescent proteins for imaging neuronal activity. Nature 499, 295\u2013300 (2013).","journal-title":"Nature"},{"key":"BFng2851_CR29","doi-asserted-by":"publisher","first-page":"676","DOI":"10.1038\/nmeth.2019","volume":"9","author":"J Schindelin","year":"2012","unstructured":"Schindelin, J. et al. Fiji: an open-source platform for biological-image analysis. Nat. Methods 9, 676\u2013682 (2012).","journal-title":"Nat. Methods"},{"key":"BFng2851_CR30","doi-asserted-by":"publisher","first-page":"2655","DOI":"10.1016\/S0006-3495(00)76809-3","volume":"78","author":"M Maravall","year":"2000","unstructured":"Maravall, M., Mainen, Z.F., Sabatini, B.L. & Svoboda, K. Estimating intracellular calcium concentrations and buffering without wavelength ratioing. Biophys. J. 78, 2655\u20132667 (2000).","journal-title":"Biophys. J."},{"key":"BFng2851_CR31","doi-asserted-by":"publisher","first-page":"1149","DOI":"10.3758\/BRM.41.4.1149","volume":"41","author":"F Faul","year":"2009","unstructured":"Faul, F., Erdfelder, E., Buchner, A. & Lang, A.G. Statistical power analyses using G*Power 3.1: tests for correlation and regression analyses. Behav. Res. Methods 41, 1149\u20131160 (2009).","journal-title":"Behav. Res. Methods"}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng.2851.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng.2851","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng.2851.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T16:57:22Z","timestamp":1684429042000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng.2851"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,15]]},"references-count":31,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,2]]}},"alternative-id":["BFng2851"],"URL":"https:\/\/doi.org\/10.1038\/ng.2851","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12,15]]}}}