{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:05:55Z","timestamp":1791925555022,"version":"4.3.4"},"reference-count":135,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2020,11,4]],"date-time":"2020-11-04T00:00:00Z","timestamp":1604448000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-10-LABX-0030-INRT"],"award-info":[{"award-number":["ANR-10-LABX-0030-INRT"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007393","name":"Association Fran\u00e7aise contre les Myopathies","doi-asserted-by":"publisher","award":["AFM 17088"],"award-info":[{"award-number":["AFM 17088"]}],"id":[{"id":"10.13039\/100007393","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Physiol."],"DOI":"10.3389\/fphys.2020.604941","type":"journal-article","created":{"date-parts":[[2020,11,4]],"date-time":"2020-11-04T05:31:26Z","timestamp":1604467886000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":77,"title":["STIM1\/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases"],"prefix":"10.3389","volume":"11","author":[{"given":"Roberto","family":"Silva-Rojas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jocelyn","family":"Laporte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johann","family":"B\u00f6hm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2020,11,4]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1301","DOI":"10.1523\/JNEUROSCI.3668-09.2010","article-title":"Inositol 1,4,5-trisphosphate receptor and dSTIM function in Drosophila insulin-producing neurons regulates systemic intracellular calcium homeostasis and flight.","volume":"30","author":"Agrawal","year":"2010","journal-title":"J. Neurosci."},{"key":"B2","doi-asserted-by":"publisher","first-page":"2077","DOI":"10.1111\/j.1538-7836.2011.04474.x","article-title":"Relative contributions of stromal interaction molecule 1 and CalDAG-GEFI to calcium-dependent platelet activation and thrombosis.","volume":"9","author":"Ahmad","year":"2011","journal-title":"J. Thromb. Haemost."},{"key":"B3","doi-asserted-by":"publisher","first-page":"e25","DOI":"10.1111\/ene.13545","article-title":"Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome.","volume":"25","author":"Alonso-Jimenez","year":"2018","journal-title":"Eur. J. Neurol."},{"key":"B4","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1038\/ni1546","article-title":"Essential function for the calcium sensor STIM1 in mast cell activation and anaphylactic responses.","volume":"9","author":"Baba","year":"2008","journal-title":"Nat. Immunol."},{"key":"B5","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1016\/j.clim.2016.03.012","article-title":"Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1.","author":"Badran","year":"2016","journal-title":"Clin. Immunol."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1761","DOI":"10.1002\/humu.23338","article-title":"Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.","volume":"38","author":"Barone","year":"2017","journal-title":"Hum. Mutat."},{"key":"B7","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1016\/j.ajhg.2012.05.022","article-title":"Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.","volume":"91","author":"Belaya","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"B8","doi-asserted-by":"publisher","first-page":"2493","DOI":"10.1093\/brain\/awv185","article-title":"Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.","volume":"138","author":"Belaya","year":"2015","journal-title":"Brain"},{"key":"B9","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1182\/blood-2008-08-174516","article-title":"R93W mutation in Orai1 causes impaired calcium influx in platelets.","volume":"113","author":"Bergmeier","year":"2009","journal-title":"Blood"},{"key":"B10","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1007\/978-3-319-26974-0_8","article-title":"Regulation of platelet function by Orai, STIM and TRP.","volume":"898","author":"Berna-Erro","year":"2016","journal-title":"Adv. Exp. Med. Biol."},{"key":"B11","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1002\/biof.143","article-title":"Calcium and bone disease.","volume":"37","author":"Blair","year":"2011","journal-title":"Biofactors"},{"key":"B12","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1016\/j.blre.2009.04.001","article-title":"Platelet alpha-granules: basic biology and clinical correlates.","volume":"23","author":"Blair","year":"2009","journal-title":"Blood Rev."},{"key":"B13","doi-asserted-by":"publisher","first-page":"426","DOI":"10.1002\/humu.23172","article-title":"ORAI1 mutations with distinct channel gating defects in tubular aggregate myopathy.","volume":"38","author":"Bohm","year":"2017","journal-title":"Hum. Mutat."},{"key":"B14","doi-asserted-by":"publisher","first-page":"824","DOI":"10.1136\/jmedgenet-2014-102623","article-title":"Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.","volume":"51","author":"Bohm","year":"2014","journal-title":"J. Med. Genet."},{"key":"B15","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1016\/j.ajhg.2012.12.007","article-title":"Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.","volume":"92","author":"Bohm","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"B16","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.ceca.2018.07.008","article-title":"Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome.","volume":"76","author":"Bohm","year":"2018","journal-title":"Cell Calc."},{"key":"B17","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1007\/s00401-017-1775-x","article-title":"CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.","volume":"135","author":"Bohm","year":"2018","journal-title":"Acta Neuropathol."},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2018.00859","article-title":"Stormorken syndrome caused by a p.R304W STIM1 mutation: the first italian patient and a review of the literature.","volume":"9","author":"Borsani","year":"2018","journal-title":"Front. Neurol."},{"key":"B19","doi-asserted-by":"publisher","first-page":"712.e5","DOI":"10.1016\/j.jaci.2018.04.034","article-title":"Severe combined immunodeficiency in stimulator of interferon genes (STING) V154M\/wild-type mice.","volume":"143","author":"Bouis","year":"2019","journal-title":"J. Allergy Clin. Immunol."},{"key":"B20","doi-asserted-by":"publisher","first-page":"2056","DOI":"10.1182\/blood-2008-07-171611","article-title":"Orai1 (CRACM1) is the platelet SOC channel and essential for pathological thrombus formation.","volume":"113","author":"Braun","year":"2009","journal-title":"Blood"},{"key":"B21","doi-asserted-by":"publisher","first-page":"806","DOI":"10.1016\/j.immuni.2013.10.010","article-title":"The spleen in local and systemic regulation of immunity.","volume":"39","author":"Bronte","year":"2013","journal-title":"Immunity"},{"key":"B22","doi-asserted-by":"publisher","first-page":"918","DOI":"10.1111\/jth.13302","article-title":"Platelet signaling: a complex interplay between inhibitory and activatory networks.","volume":"14","author":"Bye","year":"2016","journal-title":"J. Thromb. Haemost."},{"key":"B23","doi-asserted-by":"publisher","first-page":"2307","DOI":"10.1084\/jem.20101597","article-title":"Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma.","volume":"207","author":"Byun","year":"2010","journal-title":"J. Exp. Med."},{"key":"B24","doi-asserted-by":"publisher","first-page":"4109","DOI":"10.1096\/fj.201600621R","article-title":"Orai1 enhances muscle endurance by promoting fatigue-resistant type I fiber content but not through acute store-operated Ca2+ entry.","volume":"30","author":"Carrell","year":"2016","journal-title":"FASEB J."},{"key":"B25","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1093\/hmg\/dds450","article-title":"ORMDL3 modulates store-operated calcium entry and lymphocyte activation.","volume":"22","author":"Carreras-Sureda","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"B26","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1080\/03008207.2017.1408601","article-title":"The ER Ca(2+) sensor STIM1 can activate osteoblast and odontoblast differentiation in mineralized tissues.","volume":"59","author":"Chen","year":"2018","journal-title":"Connect Tissue Res."},{"key":"B27","doi-asserted-by":"publisher","first-page":"313","DOI":"10.1002\/path.1832","article-title":"The origin of tubular aggregates in human myopathies.","volume":"207","author":"Chevessier","year":"2005","journal-title":"J. Pathol."},{"key":"B28","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1016\/j.nmd.2003.11.007","article-title":"Tubular aggregates are from whole sarcoplasmic reticulum origin: alterations in calcium binding protein expression in mouse skeletal muscle during aging.","volume":"14","author":"Chevessier","year":"2004","journal-title":"Neuromuscul. Disord."},{"key":"B29","doi-asserted-by":"publisher","first-page":"479.e1","DOI":"10.1016\/j.jaci.2015.03.050","article-title":"A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function.","volume":"136","author":"Chou","year":"2015","journal-title":"J. Allergy Clin. Immunol."},{"key":"B30","doi-asserted-by":"publisher","first-page":"709","DOI":"10.1016\/j.nmd.2020.07.010","article-title":"Clinical and muscle MRI features in a family with tubular aggregate myopathy and novel STIM1 mutation.","volume":"30","author":"Claeys","year":"2020","journal-title":"Neuromuscul. Disord."},{"key":"B31","doi-asserted-by":"publisher","first-page":"4303","DOI":"10.1172\/JCI89056","article-title":"Store-operated Ca2+ entry regulates Ca2+-activated chloride channels and eccrine sweat gland function.","volume":"126","author":"Concepcion","year":"2016","journal-title":"J. Clin. Invest."},{"key":"B32","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.041111","article-title":"A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy.","volume":"13","author":"Cordero-Sanchez","year":"2019","journal-title":"Dis. Model Mech."},{"key":"B33","doi-asserted-by":"publisher","first-page":"944","DOI":"10.1093\/brain\/awt010","article-title":"Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.","volume":"136","author":"Cossins","year":"2013","journal-title":"Brain"},{"key":"B34","doi-asserted-by":"publisher","first-page":"335","DOI":"10.1083\/jcb.201012157","article-title":"STIM1L is a new actin-binding splice variant involved in fast repetitive Ca2+ release.","volume":"194","author":"Darbellay","year":"2011","journal-title":"J. Cell Biol."},{"key":"B35","doi-asserted-by":"publisher","first-page":"1465","DOI":"10.1007\/s10096-010-1049-1","article-title":"Assessment of splenic function.","volume":"29","author":"de Porto","year":"2010","journal-title":"Eur. J. Clin. Microbiol. Infect. Dis."},{"key":"B36","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1111\/j.1365-2567.2005.02317.x","article-title":"Imbalance of regulatory T cells in human autoimmune diseases.","volume":"117","author":"Dejaco","year":"2006","journal-title":"Immunology"},{"key":"B37","doi-asserted-by":"publisher","first-page":"36339","DOI":"10.1074\/jbc.M110.145607","article-title":"Calcium-mediated stress kinase activation by DMP1 promotes osteoblast differentiation.","volume":"285","author":"Eapen","year":"2010","journal-title":"J. Biol. Chem."},{"key":"B38","first-page":"1","article-title":"Regulatory mechanism of muscle contraction with special reference to the Ca-troponin-tropomyosin system.","volume":"10","author":"Ebashi","year":"1974","journal-title":"Essays Biochem."},{"key":"B39","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1016\/j.dcn.2016.11.001","article-title":"Beyond eye gaze: what else can eyetracking reveal about cognition and cognitive development?","volume":"25","author":"Eckstein","year":"2017","journal-title":"Dev. Cogn. Neurosci."},{"key":"B40","doi-asserted-by":"publisher","first-page":"458","DOI":"10.1016\/j.ceca.2010.04.001","article-title":"Ultra-rapid activation and deactivation of store-operated Ca(2+) entry in skeletal muscle.","volume":"47","author":"Edwards","year":"2010","journal-title":"Cell Calc."},{"key":"B41","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1093\/hmg\/ddu477","article-title":"Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca(2)(+) channels.","volume":"24","author":"Endo","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"B42","doi-asserted-by":"publisher","first-page":"S21","DOI":"10.3233\/JND-150098","article-title":"Congenital myasthenic syndromes with predominant limb girdle weakness.","volume":"2","author":"Evangelista","year":"2015","journal-title":"J. Neuromuscul. Dis."},{"key":"B43","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1016\/j.ceca.2017.02.007","article-title":"The role of STIM1 and SOCE in smooth muscle contractility.","volume":"63","author":"Feldman","year":"2017","journal-title":"Cell Calc."},{"key":"B44","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0061595","article-title":"The Orai-1 and STIM-1 complex controls human dendritic cell maturation.","volume":"8","author":"Felix","year":"2013","journal-title":"PLoS One"},{"key":"B45","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1016\/j.immuni.2006.04.007","article-title":"Golli protein negatively regulates store depletion-induced calcium influx in T cells.","volume":"24","author":"Feng","year":"2006","journal-title":"Immunity"},{"key":"B46","doi-asserted-by":"publisher","first-page":"690","DOI":"10.1038\/nri2152","article-title":"Calcium signalling in lymphocyte activation and disease.","volume":"7","author":"Feske","year":"2007","journal-title":"Nat. Rev. Immunol."},{"key":"B47","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1038\/nature04702","article-title":"A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function.","volume":"441","author":"Feske","year":"2006","journal-title":"Nature"},{"key":"B48","doi-asserted-by":"publisher","first-page":"2119","DOI":"10.1002\/eji.1830260924","article-title":"Severe combined immunodeficiency due to defective binding of the nuclear factor of activated T cells in T lymphocytes of two male siblings.","volume":"26","author":"Feske","year":"1996","journal-title":"Eur. J. Immunol."},{"key":"B49","doi-asserted-by":"publisher","DOI":"10.1155\/2015\/421746","article-title":"Biology of bone tissue: structure, function, and factors that influence bone cells.","volume":"2015","author":"Florencio-Silva","year":"2015","journal-title":"Biomed. Res. Int."},{"key":"B50","doi-asserted-by":"publisher","first-page":"1523","DOI":"10.4049\/jimmunol.1102507","article-title":"Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency.","volume":"188","author":"Fuchs","year":"2012","journal-title":"J. Immunol."},{"key":"B51","doi-asserted-by":"publisher","first-page":"2232","DOI":"10.1126\/science.1114110","article-title":"IP3 receptor types 2 and 3 mediate exocrine secretion underlying energy metabolism.","volume":"309","author":"Futatsugi","year":"2005","journal-title":"Science"},{"key":"B52","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1016\/j.ceca.2018.10.001","article-title":"STIM1 R304W causes muscle degeneration and impaired platelet activation in mice.","volume":"76","author":"Gamage","year":"2018","journal-title":"Cell Calc."},{"key":"B53","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceca.2019.102110","article-title":"STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone.","volume":"85","author":"Gamage","year":"2020","journal-title":"Cell Calc."},{"key":"B54","doi-asserted-by":"publisher","first-page":"780","DOI":"10.1111\/cge.12888","article-title":"A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis.","volume":"91","author":"Garibaldi","year":"2017","journal-title":"Clin. Genet."},{"key":"B55","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1097\/MOP.0000000000000064","article-title":"Inherited disorders of calcium and phosphate metabolism.","volume":"26","author":"Gattineni","year":"2014","journal-title":"Curr. Opin. Pediatr."},{"key":"B56","doi-asserted-by":"publisher","first-page":"971","DOI":"10.1016\/j.ajhg.2016.03.004","article-title":"Recessive and dominant De Novo ITPR1 mutations cause gillespie syndrome.","volume":"98","author":"Gerber","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"B57","doi-asserted-by":"publisher","first-page":"23629","DOI":"10.1074\/jbc.M110.108696","article-title":"Roles of platelet STIM1 and Orai1 in glycoprotein VI- and thrombin-dependent procoagulant activity and thrombus formation.","volume":"285","author":"Gilio","year":"2010","journal-title":"J. Biol. Chem."},{"key":"B58","doi-asserted-by":"publisher","first-page":"3540","DOI":"10.1172\/JCI32312","article-title":"An EF hand mutation in Stim1 causes premature platelet activation and bleeding in mice.","volume":"117","author":"Grosse","year":"2007","journal-title":"J. Clin. Invest."},{"key":"B59","doi-asserted-by":"publisher","first-page":"838","DOI":"10.1007\/s00415-011-6262-z","article-title":"Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.","volume":"259","author":"Guergueltcheva","year":"2012","journal-title":"J. Neurol."},{"key":"B60","doi-asserted-by":"publisher","first-page":"5209","DOI":"10.1128\/MCB.00360-08","article-title":"Hair loss and defective T- and B-cell function in mice lacking ORAI1.","volume":"28","author":"Gwack","year":"2008","journal-title":"Mol. Cell Biol."},{"key":"B61","doi-asserted-by":"publisher","first-page":"861","DOI":"10.1016\/j.nmd.2017.05.002","article-title":"Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.","volume":"27","author":"Harris","year":"2017","journal-title":"Neuromuscul. Disord."},{"key":"B62","doi-asserted-by":"publisher","first-page":"870","DOI":"10.1007\/s00415-014-7287-x","article-title":"Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.","volume":"261","author":"Hedberg","year":"2014","journal-title":"J. Neurol."},{"key":"B63","doi-asserted-by":"publisher","first-page":"736","DOI":"10.3892\/etm.2020.8774","article-title":"STIM1 controls calcineurin\/Akt\/mTOR\/NFATC2-mediated osteoclastogenesis induced by RANKL\/M-CSF.","volume":"20","author":"Huang","year":"2020","journal-title":"Exp. Therap. Med."},{"key":"B64","doi-asserted-by":"publisher","first-page":"488","DOI":"10.1016\/j.ceca.2012.10.001","article-title":"Deletion of Orai1 alters expression of multiple genes during osteoclast and osteoblast maturation.","volume":"52","author":"Hwang","year":"2012","journal-title":"Cell Calc."},{"key":"B65","doi-asserted-by":"publisher","first-page":"674","DOI":"10.1038\/nature07317","article-title":"STING is an endoplasmic reticulum adaptor that facilitates innate immune signalling.","volume":"455","author":"Ishikawa","year":"2008","journal-title":"Nature"},{"key":"B66","doi-asserted-by":"publisher","first-page":"1157","DOI":"10.1007\/s00018-010-0605-2","article-title":"The STING pathway and regulation of innate immune signaling in response to DNA pathogens.","volume":"68","author":"Ishikawa","year":"2011","journal-title":"Cell. Mol. Life Sci."},{"key":"B67","doi-asserted-by":"publisher","first-page":"1104","DOI":"10.1111\/bjd.18175","article-title":"Sweat retention anhidrosis associated with tubular aggregate myopathy.","volume":"181","author":"Ishitsuka","year":"2019","journal-title":"Br. J. Dermatol."},{"key":"B68","doi-asserted-by":"publisher","first-page":"3218","DOI":"10.1093\/hmg\/ddy225","article-title":"GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice.","volume":"27","author":"Issop","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"B69","doi-asserted-by":"publisher","first-page":"5516","DOI":"10.1172\/JCI79100","article-title":"Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.","volume":"124","author":"Jeremiah","year":"2014","journal-title":"J. Clin. Invest."},{"key":"B70","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1083\/jcb.201301148","article-title":"The STIM1 CTID domain determines access of SARAF to SOAR to regulate Orai1 channel function.","volume":"202","author":"Jha","year":"2013","journal-title":"J. Cell Biol."},{"key":"B71","doi-asserted-by":"publisher","first-page":"1339","DOI":"10.1038\/ncb3234","article-title":"Proteomic mapping of ER-PM junctions identifies STIMATE as a regulator of Ca(2)(+) influx.","volume":"17","author":"Jing","year":"2015","journal-title":"Nat. Cell Biol."},{"key":"B72","doi-asserted-by":"publisher","first-page":"531","DOI":"10.1146\/annurev.immunol.25.022106.141623","article-title":"Regulatory T cells: mechanisms of differentiation and function.","volume":"30","author":"Josefowicz","year":"2012","journal-title":"Annu. Rev. Immunol."},{"key":"B73","doi-asserted-by":"publisher","first-page":"1707","DOI":"10.1016\/j.bbamcr.2018.06.004","article-title":"Pathophysiological consequences of isoform-specific IP3 receptor mutations.","volume":"1865","author":"Kerkhofs","year":"2018","journal-title":"Biochim. Biophys. Acta Mol. Cell Res."},{"key":"B74","doi-asserted-by":"publisher","first-page":"4773","DOI":"10.1172\/JCI70720","article-title":"Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.","volume":"124","author":"Klar","year":"2014","journal-title":"J. Clin. Invest."},{"key":"B75","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1111\/nyas.12938","article-title":"Diseases caused by mutations in ORAI1 and STIM1.","volume":"1356","author":"Lacruz","year":"2015","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"B76","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1113\/jphysiol.1995.sp021056","article-title":"Raised intracellular [Ca2+] abolishes excitation-contraction coupling in skeletal muscle fibres of rat and toad.","volume":"489","author":"Lamb","year":"1995","journal-title":"J. Physiol."},{"key":"B77","doi-asserted-by":"publisher","first-page":"2299","DOI":"10.1113\/jphysiol.2009.168682","article-title":"Rapid Ca2+ flux through the transverse tubular membrane, activated by individual action potentials in mammalian skeletal muscle.","volume":"587","author":"Launikonis","year":"2009","journal-title":"J. Physiol."},{"key":"B78","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1177\/0883073819829389","article-title":"Stormorken syndrome: a rare cause of myopathy with tubular aggregates and dystrophic features.","volume":"34","author":"Li","year":"2019","journal-title":"J. Child Neurol."},{"key":"B79","doi-asserted-by":"publisher","first-page":"3009","DOI":"10.1128\/MCB.06599-11","article-title":"STIM1-Ca(2+) signaling is required for the hypertrophic growth of skeletal muscle in mice.","volume":"32","author":"Li","year":"2012","journal-title":"Mol. Cell Biol."},{"key":"B80","doi-asserted-by":"publisher","first-page":"1297.e11","DOI":"10.1016\/j.jaci.2017.10.031","article-title":"ORAI1 mutations abolishing store-operated Ca(2+) entry cause anhidrotic ectodermal dysplasia with immunodeficiency.","volume":"142","author":"Lian","year":"2018","journal-title":"J. Allergy Clin. Immunol."},{"key":"B81","doi-asserted-by":"publisher","first-page":"E638","DOI":"10.1073\/pnas.1620265114","article-title":"Calsequestrin depolymerizes when calcium is depleted in the sarcoplasmic reticulum of working muscle.","volume":"114","author":"Manno","year":"2017","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"B82","doi-asserted-by":"publisher","first-page":"474","DOI":"10.1016\/j.ymgme.2014.12.307","article-title":"York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.","volume":"114","author":"Markello","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"B83","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1038\/379168a0","article-title":"Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor.","volume":"379","author":"Matsumoto","year":"1996","journal-title":"Nature"},{"key":"B84","doi-asserted-by":"publisher","first-page":"3324","DOI":"10.1073\/pnas.1013285108","article-title":"ORAI1-mediated calcium influx is required for human cytotoxic lymphocyte degranulation and target cell lysis.","volume":"108","author":"Maul-Pavicic","year":"2011","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"B85","doi-asserted-by":"publisher","first-page":"5845","DOI":"10.4049\/jimmunol.1001796","article-title":"Store-operated Ca2+ entry through ORAI1 is critical for T cell-mediated autoimmunity and allograft rejection.","volume":"185","author":"McCarl","year":"2010","journal-title":"J. Immunol."},{"key":"B86","doi-asserted-by":"publisher","first-page":"1311.e7","DOI":"10.1016\/j.jaci.2009.10.007","article-title":"ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia.","volume":"124","author":"McCarl","year":"2009","journal-title":"J. Allergy Clin. Immunol."},{"key":"B87","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.202012617","article-title":"Pre-assembled Ca2+ entry units and constitutively active Ca2+ entry in skeletal muscle of calsequestrin-1 knockout mice.","volume":"152","author":"Michelucci","year":"2020","journal-title":"J. Gen. Physiol."},{"key":"B88","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms7899","article-title":"A STIM2 splice variant negatively regulates store-operated calcium entry.","volume":"6","author":"Miederer","year":"2015","journal-title":"Nat. Commun."},{"key":"B89","doi-asserted-by":"publisher","first-page":"556","DOI":"10.1002\/humu.22544","article-title":"A dominant STIM1 mutation causes Stormorken syndrome.","volume":"35","author":"Misceo","year":"2014","journal-title":"Hum. Mutat."},{"key":"B90","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1002\/humu.23899","article-title":"Tubular aggregate myopathy and Stormorken syndrome: mutation spectrum and genotype\/phenotype correlation.","volume":"41","author":"Morin","year":"2020","journal-title":"Hum. Mutat."},{"key":"B91","doi-asserted-by":"publisher","first-page":"1221","DOI":"10.1002\/humu.22621","article-title":"Gain-of-function mutation in STIM1 (P.R304W) is associated with Stormorken Syndrome.","volume":"35","author":"Morin","year":"2014","journal-title":"Hum. Mutat."},{"key":"B92","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1113\/jphysiol.2012.243279","article-title":"Ca2+-dependent proteolysis of junctophilin-1 and junctophilin-2 in skeletal and cardiac muscle.","volume":"591","author":"Murphy","year":"2013","journal-title":"J. Physiol."},{"key":"B93","doi-asserted-by":"publisher","first-page":"3696","DOI":"10.1182\/blood-2013-08-522037","article-title":"Platelet secretion defect in a patient with stromal interaction molecule 1 deficiency.","volume":"122","author":"Nakamura","year":"2013","journal-title":"Blood"},{"key":"B94","doi-asserted-by":"publisher","first-page":"4197","DOI":"10.1073\/pnas.1312520111","article-title":"Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.","volume":"111","author":"Nesin","year":"2014","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"B95","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1016\/j.nmd.2016.10.006","article-title":"Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation.","volume":"27","author":"Noury","year":"2017","journal-title":"Neuromuscul. Disord."},{"key":"B96","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1016\/j.cyto.2010.11.001","article-title":"Mechanism of regulation of autoimmunity by iNKT cells.","volume":"53","author":"Novak","year":"2011","journal-title":"Cytokine"},{"key":"B97","doi-asserted-by":"publisher","first-page":"605","DOI":"10.1242\/jcs.115980","article-title":"Role of STIM1- and Orai1-mediated Ca2+ entry in Ca2+-induced epidermal keratinocyte differentiation.","volume":"126","author":"Numaga-Tomita","year":"2013","journal-title":"J. Cell Sci."},{"key":"B98","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1016\/j.immuni.2013.02.008","article-title":"Agonist-selected T cell development requires strong T cell receptor signaling and store-operated calcium entry.","volume":"38","author":"Oh-Hora","year":"2013","journal-title":"Immunity"},{"key":"B99","doi-asserted-by":"publisher","first-page":"432","DOI":"10.1038\/ni1574","article-title":"Dual functions for the endoplasmic reticulum calcium sensors STIM1 and STIM2 in T cell activation and tolerance.","volume":"9","author":"Oh-Hora","year":"2008","journal-title":"Nat. Immunol."},{"key":"B100","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1038\/ng1767","article-title":"Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.","volume":"38","author":"Palmer","year":"2006","journal-title":"Nat. Genet."},{"key":"B101","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1016\/j.cell.2012.01.055","article-title":"SARAF inactivates the store operated calcium entry machinery to prevent excess calcium refilling.","volume":"149","author":"Palty","year":"2012","journal-title":"Cell"},{"key":"B102","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1038\/ncb788","article-title":"Dysfunction of store-operated calcium channel in muscle cells lacking mg29.","volume":"4","author":"Pan","year":"2002","journal-title":"Nat. Cell Biol."},{"key":"B103","doi-asserted-by":"publisher","first-page":"S23","DOI":"10.2215\/CJN.05910809","article-title":"Calcium metabolism in health and disease.","volume":"5","author":"Peacock","year":"2010","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"B104","doi-asserted-by":"publisher","first-page":"1971","DOI":"10.1056\/NEJMoa0900082","article-title":"STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity.","volume":"360","author":"Picard","year":"2009","journal-title":"N. Engl. J. Med."},{"key":"B105","doi-asserted-by":"publisher","first-page":"1383","DOI":"10.1152\/physrev.00020.2014","article-title":"Store-operated calcium channels.","volume":"95","author":"Prakriya","year":"2015","journal-title":"Physiol. Rev."},{"key":"B106","doi-asserted-by":"publisher","first-page":"3095","DOI":"10.1113\/jphysiol.2009.171967","article-title":"Calsequestrin-1: a new candidate gene for malignant hyperthermia and exertional\/environmental heat stroke.","volume":"587","author":"Protasi","year":"2009","journal-title":"J. Physiol."},{"key":"B107","doi-asserted-by":"publisher","first-page":"1071","DOI":"10.1038\/labinvest.2012.72","article-title":"Gene disruption of the calcium channel Orai1 results in inhibition of osteoclast and osteoblast differentiation and impairs skeletal development.","volume":"92","author":"Robinson","year":"2012","journal-title":"Lab. Invest."},{"key":"B108","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-31621-0","article-title":"Association of the IP3R to STIM1 provides a reduced intraluminal calcium microenvironment, resulting in enhanced store-operated calcium entry.","volume":"8","author":"Sampieri","year":"2018","journal-title":"Sci. Rep."},{"key":"B109","doi-asserted-by":"publisher","first-page":"816.e4","DOI":"10.1016\/j.jaci.2015.03.009","article-title":"A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency.","volume":"136","author":"Schaballie","year":"2015","journal-title":"J. Allergy Clin. Immunol."},{"key":"B110","doi-asserted-by":"publisher","first-page":"1822","DOI":"10.1212\/WNL.0000000000000435","article-title":"DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.","volume":"82","author":"Selcen","year":"2014","journal-title":"Neurology"},{"key":"B111","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1038\/nature12229","article-title":"An siRNA screen for NFAT activation identifies septins as coordinators of store-operated Ca2+ entry.","volume":"499","author":"Sharma","year":"2013","journal-title":"Nature"},{"key":"B112","doi-asserted-by":"publisher","first-page":"1579","DOI":"10.1093\/hmg\/ddy446","article-title":"STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice.","volume":"28","author":"Silva-Rojas","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"B113","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1038\/ncb2045","article-title":"A novel EF-hand protein, CRACR2A, is a cytosolic Ca2+ sensor that stabilizes CRAC channels in T cells.","volume":"12","author":"Srikanth","year":"2010","journal-title":"Nat. Cell Biol."},{"key":"B114","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1038\/s41590-018-0287-8","article-title":"The Ca(2+) sensor STIM1 regulates the type I interferon response by retaining the signaling adaptor STING at the endoplasmic reticulum.","volume":"20","author":"Srikanth","year":"2019","journal-title":"Nat. Immunol."},{"key":"B115","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/j.ceca.2016.11.005","article-title":"Store operated calcium entry: from concept to structural mechanisms.","volume":"63","author":"Stathopulos","year":"2017","journal-title":"Cell Calc."},{"key":"B116","doi-asserted-by":"publisher","first-page":"35855","DOI":"10.1074\/jbc.M608247200","article-title":"Stored Ca2+ depletion-induced oligomerization of stromal interaction molecule 1 (STIM1) via the EF-SAM region: an initiation mechanism for capacitive Ca2+ entry.","volume":"281","author":"Stathopulos","year":"2006","journal-title":"J. Biol. Chem."},{"key":"B117","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1016\/j.cell.2008.08.006","article-title":"Structural and mechanistic insights into STIM1-mediated initiation of store-operated calcium entry.","volume":"135","author":"Stathopulos","year":"2008","journal-title":"Cell"},{"key":"B118","doi-asserted-by":"publisher","first-page":"688","DOI":"10.1038\/ncb1731","article-title":"STIM1 signalling controls store-operated calcium entry required for development and contractile function in skeletal muscle.","volume":"10","author":"Stiber","year":"2008","journal-title":"Nat. Cell Biol."},{"key":"B119","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2019-2081","article-title":"Chronic thrombocytopenia as the initial manifestation of STIM1-related disorders.","volume":"145","author":"Sura","year":"2020","journal-title":"Pediatrics"},{"key":"B120","doi-asserted-by":"publisher","DOI":"10.12688\/f1000research.13426.1","article-title":"NFAT control of immune function: new frontiers for an abiding trooper.","volume":"7","author":"Vaeth","year":"2018","journal-title":"F1000Res"},{"key":"B121","doi-asserted-by":"publisher","first-page":"664.e6","DOI":"10.1016\/j.immuni.2017.09.003","article-title":"Store-Operated Ca(2+) entry controls clonal expansion of t cells through metabolic reprogramming.","volume":"47","author":"Vaeth","year":"2017","journal-title":"Immunity"},{"key":"B122","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1038\/s41569-018-0110-0","article-title":"Platelet biology and functions: new concepts and clinical perspectives.","volume":"16","author":"van der Meijden","year":"2019","journal-title":"Nat. Rev. Cardiol."},{"key":"B123","doi-asserted-by":"publisher","first-page":"E4839","DOI":"10.1073\/pnas.1310394110","article-title":"ORAI1 calcium channel orchestrates skin homeostasis.","volume":"110","author":"Vandenberghe","year":"2013","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"B124","doi-asserted-by":"publisher","first-page":"1583","DOI":"10.1084\/jem.20080302","article-title":"The calcium sensor STIM1 is an essential mediator of arterial thrombosis and ischemic brain infarction.","volume":"205","author":"Varga-Szabo","year":"2008","journal-title":"J. Exp. Med."},{"key":"B125","doi-asserted-by":"publisher","first-page":"10326","DOI":"10.1073\/pnas.0902982106","article-title":"Intracellular Ca2+ signaling and store-operated Ca2+ entry are required in Drosophila neurons for flight.","volume":"106","author":"Venkiteswaran","year":"2009","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"B126","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1042\/BJ20100650","article-title":"Evidence for an interaction between Golli and STIM1 in store-operated calcium entry.","volume":"430","author":"Walsh","year":"2010","journal-title":"Biochem. J."},{"key":"B127","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1016\/j.nmd.2015.04.005","article-title":"50 years to diagnosis: autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation.","volume":"25","author":"Walter","year":"2015","journal-title":"Neuromuscul. Disord."},{"key":"B128","doi-asserted-by":"publisher","DOI":"10.1038\/srep11349","article-title":"Retrograde regulation of STIM1-Orai1 interaction and store-operated Ca2+ entry by calsequestrin.","volume":"5","author":"Wang","year":"2015","journal-title":"Sci. Rep."},{"key":"B129","doi-asserted-by":"publisher","first-page":"94S","DOI":"10.1177\/0022034514527971","article-title":"STIM1 and SLC24A4 are critical for enamel maturation.","volume":"93","author":"Wang","year":"2014","journal-title":"J. Dent. Res."},{"key":"B130","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms3805","article-title":"Orai1-dependent calcium entry promotes skeletal muscle growth and limits fatigue.","volume":"4","author":"Wei-Lapierre","year":"2013","journal-title":"Nat. Commun."},{"key":"B131","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1038\/nature10567","article-title":"Melanopsin signalling in mammalian iris and retina.","volume":"479","author":"Xue","year":"2011","journal-title":"Nature"},{"key":"B132","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1002\/jcb.20675","article-title":"Calcium\/calmodulin signaling controls osteoblast growth and differentiation.","volume":"97","author":"Zayzafoon","year":"2006","journal-title":"J. Cell Biochem."},{"key":"B133","doi-asserted-by":"publisher","first-page":"2238","DOI":"10.1182\/blood-2012-08-450403","article-title":"STIM1 calcium sensor is required for activation of the phagocyte oxidase during inflammation and host defense.","volume":"123","author":"Zhang","year":"2014","journal-title":"Blood"},{"key":"B134","doi-asserted-by":"publisher","first-page":"902","DOI":"10.1038\/nature04147","article-title":"STIM1 is a Ca2+ sensor that activates CRAC channels and migrates from the Ca2+ store to the plasma membrane.","volume":"437","author":"Zhang","year":"2005","journal-title":"Nature"},{"key":"B135","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1152\/physiolgenomics.00020.2005","article-title":"Enhanced resistance to fatigue and altered calcium handling properties of sarcalumenin knockout mice.","volume":"23","author":"Zhao","year":"2005","journal-title":"Physiol. Genomics"}],"container-title":["Frontiers in Physiology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fphys.2020.604941\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,4]],"date-time":"2020-11-04T05:31:29Z","timestamp":1604467889000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fphys.2020.604941\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,4]]},"references-count":135,"alternative-id":["10.3389\/fphys.2020.604941"],"URL":"https:\/\/doi.org\/10.3389\/fphys.2020.604941","relation":{},"ISSN":["1664-042X"],"issn-type":[{"value":"1664-042X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11,4]]},"article-number":"604941"}}