{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T09:57:44Z","timestamp":1775815064256,"version":"3.50.1"},"reference-count":56,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2024,8,10]],"date-time":"2024-08-10T00:00:00Z","timestamp":1723248000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,8,10]],"date-time":"2024-08-10T00:00:00Z","timestamp":1723248000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100012990","name":"Universit\u00e0 degli Studi di Siena","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100012990","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Muscle Res Cell Motil"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Tubular aggregate myopathy (TAM) is a rare myopathy characterized by muscle weakness and myalgia. Muscle fibers from TAM patients show characteristic accumulation of membrane tubules that contain proteins from the sarcoplasmic reticulum (SR). Gain-of-function mutations in STIM1 and ORAI1, the key proteins participating in the Store-Operated Ca<jats:sup>2+<\/jats:sup> Entry (SOCE) mechanism, were identified in patients with TAM. Recently, the <jats:italic>CASQ1<\/jats:italic> gene was also found to be mutated in patients with TAM. CASQ1 is the main Ca<jats:sup>2+<\/jats:sup> buffer of the SR and a negative regulator of SOCE. Previous characterization of CASQ1 mutants in non-muscle cells revealed that they display altered Ca<jats:sup>2+<\/jats:sup>dependent polymerization, reduced Ca<jats:sup>2+<\/jats:sup>storage capacity and alteration in SOCE inhibition. We thus aimed to assess how mutations in CASQ1 affect calcium regulation in skeletal muscles, where CASQ1 is naturally expressed. We thus expressed CASQ1 mutants in muscle fibers from <jats:italic>Casq1<\/jats:italic> knockout mice, which provide a valuable model for studying the Ca<jats:sup>2+<\/jats:sup> storage capacity of TAM-associated mutants. Moreover, since <jats:italic>Casq1<\/jats:italic> knockout mice display a constitutively active SOCE, the effect of CASQ1 mutants on SOCE inhibition can be also properly examined in fibers from these mice. Analysis of intracellular Ca<jats:sup>2+<\/jats:sup> confirmed that CASQ1 mutants have impaired ability to store Ca<jats:sup>2+<\/jats:sup>and lose their ability to inhibit skeletal muscle SOCE; this is in agreement with the evidence that alterations in Ca<jats:sup>2+<\/jats:sup>entry due to mutations in either STIM1, ORAI1 or CASQ1 represents a hallmark of TAM.<\/jats:p>","DOI":"10.1007\/s10974-024-09681-9","type":"journal-article","created":{"date-parts":[[2024,8,10]],"date-time":"2024-08-10T07:02:32Z","timestamp":1723273352000},"page":"275-284","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["TAM-associated CASQ1 mutants diminish intracellular Ca2+ content and interfere with regulation of SOCE"],"prefix":"10.1007","volume":"45","author":[{"given":"Alessandra","family":"Gamberucci","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudio","family":"Nanni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrico","family":"Pierantozzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matteo","family":"Serano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feliciano","family":"Protasi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Rossi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Sorrentino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,8,10]]},"reference":[{"key":"9681_CR1","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1152\/physrev.00015.2007","volume":"88","author":"DG Allen","year":"2008","unstructured":"Allen DG, Lamb GD, Westerblad H (2008) Skeletal muscle fatigue: Cellular mechanisms. Physiol Rev 88:287\u2013332. https:\/\/doi.org\/10.1152\/physrev.00015.2007","journal-title":"Physiol Rev"},{"key":"9681_CR2","doi-asserted-by":"publisher","first-page":"1761","DOI":"10.1002\/humu.23338","volume":"38","author":"V Barone","year":"2017","unstructured":"Barone V, Del Re V, Gamberucci A, Polverino V, Galli L, Rossi D, Costanzi E, Toniolo L, Berti G, Malandrini A, Ricci G, Siciliano G, Vattemi G, Tomelleri G, Pierantozzi E, Spinozzi S, Volpi N, Fulceri R, Battistutta R, Reggiani C, Sorrentino V (2017) Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy. Hum Mutat 38:1761\u20131773. https:\/\/doi.org\/10.1002\/humu.23338","journal-title":"Hum Mutat"},{"key":"9681_CR3","doi-asserted-by":"publisher","first-page":"1791","DOI":"10.1007\/s00415-017-8569-x","volume":"264","author":"S Bauch\u00e9","year":"2017","unstructured":"Bauch\u00e9 S, Vellieux G, Sternberg D, Fontenille MJ, De Bruyckere E, Davoine CS, Brochier G, Mess\u00e9ant J, Wolf L, Fardeau M, Lac\u00e8ne E, Romero N, Koenig J, Fournier E, Hanta\u00ef D, Streichenberger N, Manel V, Lacour A, Nadaj-Pakleza A, Sukno S, Bouhour F, Lafor\u00eat P, Fontaine B, Strochlic L, Eymard B, Chevessier F, Stojkovicm T, Nicole S (2017) Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy. J Neurol 264:1791\u20131803. https:\/\/doi.org\/10.1007\/s00415-017-8569-x","journal-title":"J Neurol"},{"key":"9681_CR4","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1186\/s13395-015-0029-7","volume":"22","author":"NA Beard","year":"2015","unstructured":"Beard NA, Dulhunty AF (2015) C-terminal residues of skeletal muscle calsequestrin are essential for calcium binding and for skeletal ryanodine receptor inhibition. Skelet Muscle 22:5\u20136. https:\/\/doi.org\/10.1186\/s13395-015-0029-7","journal-title":"Skelet Muscle"},{"key":"9681_CR5","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1016\/0014-5793(92)80241-8","volume":"299","author":"D Biral","year":"1992","unstructured":"Biral D, Volpe P, Damiani E, Margreth A (1992) Coexistence of two calsequestrin isoforms in rabbit slow-twitch skeletal muscle fibers. FEBS Lett 299:175\u2013178. https:\/\/doi.org\/10.1016\/0014-5793(92)80241-8","journal-title":"FEBS Lett"},{"key":"9681_CR6","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1085\/jgp.201110747","volume":"140","author":"B Blaauw","year":"2012","unstructured":"Blaauw B, Del Piccolo P, Rodriguez L, Hernandez Gonzalez VH, Agatea L, Solagna F, Mammano F, Pozzan T, Schiaffino S (2012) No evidence for inositol 1,4,5-trisphosphate-dependent Ca2+ release in isolated fibers of adult mouse skeletal muscle. J Gen Physiol 140:235\u2013241. https:\/\/doi.org\/10.1085\/jgp.201110747","journal-title":"J Gen Physiol"},{"key":"9681_CR9","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.ceca.2018.07.008","volume":"76","author":"J B\u00f6hm","year":"2018","unstructured":"B\u00f6hm J, Laporte J (2018) Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome. Cell Calcium 76:1\u20139. https:\/\/doi.org\/10.1016\/j.ceca.2018.07.008","journal-title":"Cell Calcium"},{"key":"9681_CR7","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1016\/j.ajhg.2012.12.007","volume":"92","author":"J B\u00f6hm","year":"2013","unstructured":"B\u00f6hm J, Chevessier F, Maues De Paula A, Koch C, Attarian S, Feger C, Hanta\u00ef D, Lafor\u00eat P, Ghorab K, Vallat JM, Fardeau M, Figarella-Branger D, Pouget J, Romero NB, Koch M, Ebel C, Levy N, Krahn M, Eymard B, Bartoli M, Laporte J (2013) Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am J Hum Genet 92:271\u2013278. https:\/\/doi.org\/10.1016\/j.ajhg.2012.12.007","journal-title":"Am J Hum Genet"},{"key":"9681_CR8","doi-asserted-by":"publisher","first-page":"426","DOI":"10.1002\/humu.23172","volume":"38","author":"J B\u00f6hm","year":"2017","unstructured":"B\u00f6hm J, Bulla M, Urquhart JE, Malfatti E, Williams SG, O\u2019Sullivan J, Szlauer A, Koch C, Baranello G, Mora M, Ripolone M, Violano R, Moggio M, Kingston H, Dawson T, DeGoede CG, Nixon J, Boland A, Deleuze JF, Romero N, Newman WG, Demaurex N, Laporte J (2017) ORAI1 mutations with distinct channel gating defects in tubular aggregate myopathy. Hum Mutat 38:426\u2013438. https:\/\/doi.org\/10.1002\/humu.23172","journal-title":"Hum Mutat"},{"key":"9681_CR10","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1007\/s00401-017-1775-x","volume":"135","author":"J B\u00f6hm","year":"2018","unstructured":"B\u00f6hm J, Lornage X, Chevessier F, Birck C, Zanotti S, Cudia P, Bulla M, Granger F, Bui M, Sartori M, Schneider-Gold C, Malfatti E, Romero NB, Mora M, Laporte J (2018b) CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy. Acta Neuropathol 135:149\u2013151. https:\/\/doi.org\/10.1007\/s00401-017-1775-x","journal-title":"Acta Neuropathol"},{"key":"9681_CR11","doi-asserted-by":"publisher","first-page":"e39962","DOI":"10.1371\/journal.pone.0039962","volume":"7","author":"S Boncompagni","year":"2012","unstructured":"Boncompagni S, Thomas M, Lopez JR, Allen PD, Yuan Q, Kranias EG, Franzini-Armstrong C, Perez CF (2012) Triadin\/Junctin double null mouse reveals a differential role for Triadin and Junctin in anchoring CASQ to the jSR and regulating ca(2+) homeostasis. PLoS ONE 7:e39962. https:\/\/doi.org\/10.1371\/journal.pone.0039962","journal-title":"PLoS ONE"},{"key":"9681_CR12","doi-asserted-by":"publisher","first-page":"e12952","DOI":"10.1111\/nan.12952","volume":"20","author":"LV Brande","year":"2023","unstructured":"Brande LV, Bauch\u00e9 S, P\u00e9rez-Gu\u00e0rdia L, Sternberg D, Seferian AM, Malfatti E, Silva-Rojas R, Labasse C, Chevessier F, Carlier P, Eymard B, Romero NB, Laporte J, Servais L, Gidaro T, B\u00f6hm J (2023) Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation. Neuropathol Appl Neurobiol Dec 20:e12952. https:\/\/doi.org\/10.1111\/nan.12952","journal-title":"Neuropathol Appl Neurobiol Dec"},{"key":"9681_CR13","doi-asserted-by":"publisher","first-page":"19140","DOI":"10.1038\/s41598-019-55745-z","volume":"16","author":"JH Choi","year":"2019","unstructured":"Choi JH, Huang M, Hyun C, Oh MR, Lee KJ, Cho CH, Lee EH (2019) A muscular hypotonia-associated STIM1 mutant at R429 induces abnormalities in intracellular Ca2+ movement and extracellular Ca2+ entry in skeletal muscle. Sci Rep 16:19140. https:\/\/doi.org\/10.1038\/s41598-019-55745-z","journal-title":"Sci Rep"},{"key":"9681_CR14","doi-asserted-by":"publisher","first-page":"dmm041111","DOI":"10.1242\/dmm.041111","volume":"13","author":"C Cordero-Sanchez","year":"2019","unstructured":"Cordero-Sanchez C, Riva B, Reano S, Clemente N, Zaggia I, Ruffinatti FA, Potenzieri A, Pirali T, Raffa S, Sangaletti S, Colombo MP, Bertoni A, Garibaldi M, Filigheddu N, Genazzani AA (2019) A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy. Dis Model Mech 13:dmm041111. https:\/\/doi.org\/10.1242\/dmm.041111","journal-title":"Dis Model Mech"},{"issue":"15","key":"9681_CR15","doi-asserted-by":"publisher","first-page":"4471","DOI":"10.1182\/bloodadvances.2021006378","volume":"9","author":"C Cordero-Sanchez","year":"2022","unstructured":"Cordero-Sanchez C, Pessolano E, Riva B, Vismara M, Trivigno SMG, Clemente N, Aprile S, Ruffinatti FA, Portararo P, Filigheddu N, Zaggia I, Bhela IP, Serafini M, Pirali T, Colombo MP, Torti M, Sangaletti S, Bertoni A, Genazzani AA (2022) CIC-39Na reverses the thrombocytopenia that characterizes tubular aggregate myopathy. Blood Adv 9(15):4471\u20134484. https:\/\/doi.org\/10.1182\/bloodadvances.2021006378","journal-title":"Blood Adv"},{"key":"9681_CR16","doi-asserted-by":"publisher","first-page":"522","DOI":"10.1007\/BF01745219","volume":"11","author":"E Damiani","year":"1990","unstructured":"Damiani E, Volpe P, Margreth A (1990) Coexpression of two isoforms of calsequestrin in rabbit slow-twitch muscle. J Muscle Res Cell Motil 11:522\u2013530. https:\/\/doi.org\/10.1007\/BF01745219","journal-title":"J Muscle Res Cell Motil"},{"key":"9681_CR17","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1038\/nature04702","volume":"441","author":"S Feske","year":"2006","unstructured":"Feske S, Gwack Y, Prakriya M, Srikanth S, Puppel SH, Tanasa B, Hogan PG, Lewis RS, Daly M, Rao A (2006) A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function. Nature 441:179\u2013185. https:\/\/doi.org\/10.1038\/nature04702","journal-title":"Nature"},{"key":"9681_CR18","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1083\/jcb.105.1.49","volume":"105","author":"C Franzini-Armstrong","year":"1987","unstructured":"Franzini-Armstrong C, Kennery LJ, Varriano-Martson E (1987) The structure of calsequestrin in triads of vertebrate skeletal muscle: a deep-etch study. J Cell Biol 105:49\u201356. https:\/\/doi.org\/10.1083\/jcb.105.1.49","journal-title":"J Cell Biol"},{"key":"9681_CR19","doi-asserted-by":"publisher","first-page":"1041","DOI":"10.14670\/HH-28.1041","volume":"28","author":"F Funk","year":"2013","unstructured":"Funk F, Ceuterick-de Groote C, Martin JJ, Meinhardt A, Taratuto AL, De Bleecker J, Van Coster R, De Paepe B, Schara U, Vorgerd M, H\u00e4usler M, Koppi S, Maschke M, De Jonghe P, Van Maldergem L, Noel S, Zimmermann CW, Wirth S, Isenmann S, Stadler R, Schr\u00f6der JM, Schulz JB, Weis J, Claeys KG (2013) Morphological spectrum and clinical features of myopathies with tubular aggregates. Histol Histopathol 28:1041\u20131054. https:\/\/doi.org\/10.14670\/HH-28.1041","journal-title":"Histol Histopathol"},{"key":"9681_CR20","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1002\/acn3.51477","volume":"9","author":"Q Gang","year":"2022","unstructured":"Gang Q, Bettencourt C, Brady S, Holton JL, Healy EG, McConville J, Morrison PJ, Ripolone M, Violano R, Sciacco M, Moggio M, Mora M, Mantegazza R, Zanotti S, Wang Z, Yuan Y, Liu WW, Beeson D, Hanna M, Houlden H (2022) Genetic defects are common in myopathies with tubular aggregates. Ann Clin Transl Neurol 9:4\u201315. https:\/\/doi.org\/10.1002\/acn3.51477","journal-title":"Ann Clin Transl Neurol"},{"key":"9681_CR57","doi-asserted-by":"publisher","unstructured":"Gissel H, Clausen T (2000) Excitation-induced Ca2+ influx in rat soleus and EDL muscle: mechanisms and effects on cellular integrity. Am J Physiol Regul Integr Comp Physiol 279(3):R917\u2013R924. https:\/\/doi.org\/10.1152\/ajpregu.2000.279.3.R917","DOI":"10.1152\/ajpregu.2000.279.3.R917"},{"key":"9681_CR22","doi-asserted-by":"publisher","first-page":"4607","DOI":"10.1046\/j.1432-1033.2002.03160.x","volume":"269","author":"L Glover","year":"2002","unstructured":"Glover L, Quinn S, Ryan M, Pette D, Ohlendieck K (2002) Supramolecular calsequestrin complex. Eur J Biochem 269:4607\u20134616. https:\/\/doi.org\/10.1046\/j.1432-1033.2002.03160.x","journal-title":"Eur J Biochem"},{"key":"9681_CR23","doi-asserted-by":"publisher","first-page":"3540","DOI":"10.1172\/JCI32312","volume":"117","author":"J Grosse","year":"2007","unstructured":"Grosse J, Braun A, Varga-Szabo D, Beyersdorf N, Schneider B, Zeitlmann L, Hanke P, Schropp P, M\u00fchlstedt S, Zorn C, Huber M, Schmittwolf C, Jagla W, Yu P, Kerkau T, Schulze H, Nehls M, Nieswandt B (2007) An EF hand mutation in Stim1 causes premature platelet activation and bleeding in mice. J Clin Invest 117:3540\u20133550. https:\/\/doi.org\/10.1172\/JCI32312","journal-title":"J Clin Invest"},{"key":"9681_CR24","doi-asserted-by":"publisher","first-page":"e21349","DOI":"10.1096\/fj.202001653RR","volume":"35","author":"AD Hanna","year":"2021","unstructured":"Hanna AD, Lee CS, Babcock, Wang H, Recio J, Hamilton SL (2021) Pathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation. FASEB J 35:e21349. https:\/\/doi.org\/10.1096\/fj.202001653RR","journal-title":"FASEB J"},{"key":"9681_CR25","doi-asserted-by":"publisher","first-page":"2821","DOI":"10.3390\/cells10112821","volume":"10","author":"SY Jeong","year":"2021","unstructured":"Jeong SY, Oh MR, Choi JH, Woo JS, Lee EH (2021) Calsequestrin 1 is an active Partner of Stromal Interaction Molecule 2 in skeletal muscle. Cells 10:2821. https:\/\/doi.org\/10.3390\/cells10112821","journal-title":"Cells"},{"key":"9681_CR26","doi-asserted-by":"publisher","first-page":"17639","DOI":"10.1074\/jbc.M002091200","volume":"275","author":"YM Kobayashi","year":"2000","unstructured":"Kobayashi YM, Alseikhan BA, Jones LR (2000) Localization and characterization of the calsequestrin-binding domain of triadin 1. Evidence for a charged beta-strand in mediating the protein-protein interaction. J Biol Chem 275:17639\u201317646. https:\/\/doi.org\/10.1074\/jbc.M002091200","journal-title":"J Biol Chem"},{"key":"9681_CR27","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1111\/nyas.12938","volume":"1356","author":"RS Lacruz","year":"2015","unstructured":"Lacruz RS, Feske S (2015) Diseases caused by mutations in ORAI1 and STIM1. Ann N Y Acad Sci 1356:45\u201379. https:\/\/doi.org\/10.1111\/nyas.12938","journal-title":"Ann N Y Acad Sci"},{"key":"9681_CR28","doi-asserted-by":"publisher","first-page":"28665","DOI":"10.1074\/jbc.M115.686261","volume":"290","author":"KM Lewis","year":"2015","unstructured":"Lewis KM, Ronish LA, R\u00edos E, Kang C (2015) Characterization of Two Human Skeletal Calsequestrin Mutants Implicated in malignant hyperthermia and Vacuolar Aggregate Myopathy. J Biol Chem 290:28665\u201328674. https:\/\/doi.org\/10.1074\/jbc.M115.686261","journal-title":"J Biol Chem"},{"key":"9681_CR29","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1016\/j.nmd.2019.05.008","volume":"29","author":"HY Luo","year":"2019","unstructured":"Luo HY, Zhao L, Mao CY, Yang ZH, Yang J, Wang YL, Niu HX, Liu YT, Shi CH, Xu YM (2019) Novel compound heterozygous GFPT1 mutations in a family with limb-girdle myasthenia with tubular aggregates. Neuromuscul Disord 29:549\u2013553. https:\/\/doi.org\/10.1016\/j.nmd.2019.05.008","journal-title":"Neuromuscul Disord"},{"key":"9681_CR30","doi-asserted-by":"publisher","first-page":"1231","DOI":"10.1073\/pnas.68.6.1231","volume":"68","author":"DH MacLennan","year":"1971","unstructured":"MacLennan DH, Wong PT (1971) Isolation of a calcium-sequestering protein from sarcoplasmic reticulum. Proc Natl Acad Sci U S A 68:1231\u20131235. https:\/\/doi.org\/10.1073\/pnas.68.6.1231","journal-title":"Proc Natl Acad Sci U S A"},{"key":"9681_CR31","doi-asserted-by":"publisher","first-page":"1693","DOI":"10.3390\/biom13121693","volume":"13","author":"C Marabelli","year":"2023","unstructured":"Marabelli C, Santiago DJ, Priori SG (2023) The structural\u2013functional crosstalk of the Calsequestrin System: insights and pathological implications. Biomolecules 13:1693. https:\/\/doi.org\/10.3390\/biom13121693","journal-title":"Biomolecules"},{"key":"9681_CR32","doi-asserted-by":"publisher","first-page":"1311","DOI":"10.1016\/j.jaci.2009.10.007","volume":"124","author":"CA McCarl","year":"2009","unstructured":"McCarl CA, Picard C, Khalil S, Kawasaki T, R\u00f6ther J, Papolos A, Kutok J, Hivroz CF, Ledeist F, Plogmann K, Ehl S, Notheis G, Albert MH, Belohradsky BH, Kirschner J, Rao A, Fischer A, Feske S (2009) ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia. J Allergy Clin Immunol 124:1311\u20131318e7. https:\/\/doi.org\/10.1016\/j.jaci.2009.10.007","journal-title":"J Allergy Clin Immunol"},{"key":"9681_CR33","doi-asserted-by":"publisher","first-page":"e202213114","DOI":"10.1085\/jgp.202213114","volume":"154","author":"A Michelucci","year":"2022","unstructured":"Michelucci A, Pietrangelo L, Rastelli G, Protasi F, Dirksen RT, Boncompagni S (2022) Constitutive Assembly of Ca2+ entry units in soleus muscle from Calsequestrin knockout mice. J Gen Physiol 154:e202213114. https:\/\/doi.org\/10.1085\/jgp.202213114","journal-title":"J Gen Physiol"},{"key":"9681_CR34","doi-asserted-by":"crossref","unstructured":"Misceo D, Holmgren A, Louch WE, Holme PA, Mizobuchi M, Morales RJ, De Paula AM, Stray-Pedersen A, Lyle R, Dalhus B, Christensen G, Stormorken H, Tj\u00f8nnfjord GE, Frengen E (2014) A dominant STIM1 mutation causes Stormorken syndrome. Hum Mutat 35:556\u2013564. https:\/\/doi.org\/","DOI":"10.1002\/humu.22544"},{"key":"9681_CR35","doi-asserted-by":"publisher","first-page":"4197","DOI":"10.1073\/pnas.1312520111","volume":"111","author":"V Nesin","year":"2014","unstructured":"Nesin V, Wiley G, Kousi M, Ong EC, Lehmann T, Nicholl DJ, Suri M, Shahrizaila N, Katsanis N, Gaffney PM, Wierenga KJ, Tsioka L (2014) Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. Proc Natl Acad Sci U S A 111:4197\u20134202. https:\/\/doi.org\/10.1073\/pnas.1312520111","journal-title":"Proc Natl Acad Sci U S A"},{"key":"9681_CR36","doi-asserted-by":"crossref","unstructured":"O\u2019Connor TN, Zhao N, Orciuoli HM, Brasile A, Pietrangelo L, He M, Groom L, Leigh J, Mahamed Z, Liang C, Malik S, Protasi F, Dirksen T (2023) Voluntary wheel running mitigates disease in an Orai1 gain-of-function mouse model of tubular aggregate myopathy. bioRxiv [Preprint] 29. 2023.09.29.559036","DOI":"10.1101\/2023.09.29.559036"},{"key":"9681_CR37","doi-asserted-by":"publisher","first-page":"821","DOI":"10.1249\/01.mss.0000126468.65714.60","volume":"36","author":"K Overgaard","year":"2004","unstructured":"Overgaard K, Fredsted A, Hyldal A, Ingemann-Hansen T, Gissel H, Clausen T (2004) Effects of running distance and training on Ca2+ content and damage in human muscle. Med Sci Sports Exerc 36:821\u2013829. https:\/\/doi.org\/10.1249\/01.mss.0000126468.65714.60","journal-title":"Med Sci Sports Exerc"},{"key":"9681_CR38","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1113\/jphysiol.2007.138024","volume":"583","author":"C Paolini","year":"2007","unstructured":"Paolini C, Quarta M, Nori A, Boncompagni S, Canato M, Volpe P, Allen PD, Reggiani C, Protasi F (2007) Reorganized stores and impaired calcium handling in skeletal muscle of mice lacking calsequestrin-1. J Physiol 583:767\u2013784. https:\/\/doi.org\/10.1113\/jphysiol.2007.138024","journal-title":"J Physiol"},{"key":"9681_CR39","doi-asserted-by":"publisher","first-page":"18026","DOI":"10.1074\/jbc.M311553200","volume":"279","author":"H Park","year":"2004","unstructured":"Park H, Park IY, Kim E, Youn B, Fields K, Dunker AK, Kang C (2004) Comparing skeletal and cardiac calsequestrin structures and their calcium binding: a proposed mechanism for coupled calcium binding and protein polymerization. J Biol Chem 279:18026\u201318033. https:\/\/doi.org\/10.1074\/jbc.M311553200","journal-title":"J Biol Chem"},{"key":"9681_CR40","doi-asserted-by":"publisher","first-page":"4183","DOI":"10.1113\/JP279512","volume":"601","author":"L Pearce","year":"2023","unstructured":"Pearce L, Meizoso-Huesca A, Seng C, Lamboley CR, Singh DP, Launikonis BS (2023) Ryanodine receptor activity and store-operated Ca2+ entry: critical regulators of Ca2+ content and function in skeletal muscle. J Physiol 601:4183\u20134202. https:\/\/doi.org\/10.1113\/JP279512","journal-title":"J Physiol"},{"key":"9681_CR41","doi-asserted-by":"publisher","first-page":"102605","DOI":"10.1016\/j.ceca.2022.102605","volume":"105","author":"B Riva","year":"2022","unstructured":"Riva B, Pessolano E, Quaglia E, Cordero-Sanchez C, Bhela IP, Topf A, Serafini M, Cox D, Harris E, Garibaldi M, Barresi R, Pirali T, Genazzani AA (2022) STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca2+-entry modulators CIC-37 and CIC-39. Cell Calcium 105:102605. https:\/\/doi.org\/10.1016\/j.ceca.2022.102605","journal-title":"Cell Calcium"},{"key":"9681_CR42","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1083\/jcb.200502019","volume":"169","author":"J Roos","year":"2005","unstructured":"Roos J, Di Gregorio PJ, Yeromin AV, Ohlsen K, Lioudyno M, Zhang S, Safrina O, Kozak JA, Wagner SL, Cahalan MD, Veli\u00e7elebi G, Stauderman KA (2005) STIM1, an essential and conserved component of store-operated Ca2+ channel function. J Cell Biol 169:435\u2013445. https:\/\/doi.org\/10.1083\/jcb.200502019","journal-title":"J Cell Biol"},{"key":"9681_CR43","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1042\/BJ20130719","volume":"458","author":"D Rossi","year":"2014","unstructured":"Rossi D, Bencini C, Maritati M, Benini F, Lorenzini S, Pierantozzi E, Scarcella AM, Paolini C, Protasi F, Sorrentino V (2014a) Distinct regions of triadin are required for targeting and retention at the junctional domain of the sarcoplasmic reticulum. Biochem J 458:407\u2013417. https:\/\/doi.org\/10.1042\/BJ20130719","journal-title":"Biochem J"},{"key":"9681_CR44","doi-asserted-by":"publisher","first-page":"1163","DOI":"10.1002\/humu.22631","volume":"35","author":"D Rossi","year":"2014","unstructured":"Rossi D, Vezzani B, Galli L, Paolini C, Toniolo L, Pierantozzi E, Spinozzi S, Barone V, Pegoraro E, Bello L, Cenacchi G, Vattemi G, Tomelleri G, Ricci G, Siciliano G, Protasi F, Reggiani C, Sorrentino V (2014b) A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates. Hum Mutat 35:1163\u20131170. https:\/\/doi.org\/10.1002\/humu.22631","journal-title":"Hum Mutat"},{"key":"9681_CR45","doi-asserted-by":"publisher","first-page":"15716","DOI":"10.1073\/pnas.1820980116","volume":"116","author":"D Rossi","year":"2019","unstructured":"Rossi D, Scarcella AM, Liguori E, Lorenzini S, Pierantozzi E, Kutchukian C, Jacquemond V, Messa M, De Camilli P, Sorrentino V (2019) Molecular determinants of homo- and heteromeric interactions of Junctophilin-1 at triads in adult skeletal muscle fibers. Proc Natl Acad Sci U S A 116:15716\u201315724. https:\/\/doi.org\/10.1073\/pnas.1820980116","journal-title":"Proc Natl Acad Sci U S A"},{"key":"9681_CR46","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1016\/s0014-5793(00)02246-8","volume":"486","author":"DW Shin","year":"2000","unstructured":"Shin DW, Ma J, Kim DH (2000) The asp-rich region at the carboxyl-terminus of calsequestrin binds to ca(2+) and interacts with triadin. FEBS Lett 486:178\u2013182. https:\/\/doi.org\/10.1016\/s0014-5793(00)02246-8","journal-title":"FEBS Lett"},{"key":"9681_CR47","doi-asserted-by":"publisher","first-page":"1579","DOI":"10.1093\/hmg\/ddy446","volume":"28","author":"R Silva-Rojas","year":"2019","unstructured":"Silva-Rojas R, Treves S, Jacobs H, Kessler P, Messaddeq N, Laporte J, B\u00f6hm J (2019) STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice. Hum Mol Genet 28:1579\u20131593. https:\/\/doi.org\/10.1093\/hmg\/ddy446","journal-title":"Hum Mol Genet"},{"key":"9681_CR48","doi-asserted-by":"publisher","first-page":"604941","DOI":"10.3389\/fphys.2020.604941","volume":"11","author":"R Silva-Rojas","year":"2020","unstructured":"Silva-Rojas R, Laporte J, B\u00f6hm J (2020) STIM1\/ORAI1 loss-of-function and gain-of-function mutations inversely Impact on SOCE and Calcium Homeostasis and cause Multi-systemic Mirror diseases. Front Physiol 11:604941. https:\/\/doi.org\/10.3389\/fphys.2020.604941","journal-title":"Front Physiol"},{"key":"9681_CR49","doi-asserted-by":"publisher","first-page":"1730","DOI":"10.3390\/cells10071730","volume":"10","author":"R Silva-Rojas","year":"2021","unstructured":"Silva-Rojas R, Charles AL, Djeddi S, Geny B, Laporte J, B\u00f6hm J (2021) Pathophysiological effects of overactive STIM1 on murine muscle function and structure. Cells 10:1730. https:\/\/doi.org\/10.3390\/cells10071730","journal-title":"Cells"},{"key":"9681_CR50","doi-asserted-by":"publisher","first-page":"6968","DOI":"10.3390\/ijms23136968","volume":"23","author":"R Silva-Rojas","year":"2022","unstructured":"Silva-Rojas R, P\u00e9rez-Gu\u00e0rdia L, Lafabrie E, Moulaert D, Laporte J, B\u00f6hm J (2022) Silencing of the Ca2+ Channel ORAI1 improves the multi-systemic phenotype of tubular aggregate myopathy (TAM) and Stormorken Syndrome (STRMK) in mice. Int J Mol Sci 23:6968. https:\/\/doi.org\/10.3390\/ijms23136968","journal-title":"Int J Mol Sci"},{"issue":"96","key":"9681_CR51","doi-asserted-by":"publisher","first-page":"e174866","DOI":"10.1172\/jci.insight.174866","volume":"Mar 5","author":"R Silva-Rojas","year":"2024","unstructured":"Silva-Rojas R, P\u00e9rez-Gu\u00e0rdia L, Simon A, Djeddi S, Treves S, Ribes A, Silva-Hern\u00e1ndez L, Tard C, Laporte J, B\u00f6hm J (2024) ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome. JCI Insight Mar 5(96):e174866. https:\/\/doi.org\/10.1172\/jci.insight.174866","journal-title":"JCI Insight"},{"key":"9681_CR52","doi-asserted-by":"publisher","first-page":"C575","DOI":"10.1152\/ajpcell.00119.2011","volume":"302","author":"M Tomasi","year":"2012","unstructured":"Tomasi M, Canato M, Paolini C, Dainese M, Reggiani C, Volpe P, Protasi F, Nori A (2012) Calsequestrin (CASQ1) rescues function and structure of calcium release units in skeletal muscles of CASQ1-null mice. Am J Physiol Cell Physiol 302:C575\u2013586. https:\/\/doi.org\/10.1152\/ajpcell.00119.2011","journal-title":"Am J Physiol Cell Physiol"},{"key":"9681_CR53","doi-asserted-by":"publisher","first-page":"11349","DOI":"10.1038\/srep11349","volume":"5","author":"L Wang","year":"2015","unstructured":"Wang L, Zhan L, Li S, Zheng Y, Yan X, Chen M, Wang H, Putney JW, Luo D (2015) Retrograde regulation of STIM1-Orai1 interaction and store-operated Ca2+ entry by calsequestrin. Sci Rep 5:11349. https:\/\/doi.org\/10.1038\/srep11349","journal-title":"Sci Rep"},{"key":"9681_CR54","doi-asserted-by":"publisher","first-page":"C795","DOI":"10.1152\/ajpcell.00440.2023","volume":"326","author":"D Watanabe","year":"2024","unstructured":"Watanabe D, Nishi M, Liu F, Bian Y, Takeshima H (2024) Ca2+ storage function is altered in the sarcoplasmic reticulum of skeletal muscle lacking mitsugumin 23. Am J Physiol Cell Physiol 326:C795\u2013C809. https:\/\/doi.org\/10.1152\/ajpcell.00440.2023","journal-title":"Am J Physiol Cell Physiol"},{"key":"9681_CR55","doi-asserted-by":"publisher","first-page":"23389","DOI":"10.1074\/jbc.272.37.23389","volume":"272","author":"L Zhang","year":"1997","unstructured":"Zhang L, Kelley J, Schmeisser G, Kobayashi YM, Jones LR (1997) Complex formation between junctin, triadin, calsequestrin, and the ryanodine receptor. Proteins of the cardiac junctional sarcoplasmic reticulum membrane. J Biol Chem 272:23389\u201323397. https:\/\/doi.org\/10.1074\/jbc.272.37.23389","journal-title":"J Biol Chem"},{"key":"9681_CR56","doi-asserted-by":"publisher","first-page":"2183","DOI":"10.1159\/000445574","volume":"38","author":"L Zhang","year":"2016","unstructured":"Zhang L, Wang L, Li S, Xue J, Luo D (2016) Calsequestrin-1 regulates store-operated Ca2+ entry by inhibiting STIM1 aggregation. Cell Physiol Biochem 38:2183\u20132193. https:\/\/doi.org\/10.1159\/000445574","journal-title":"Cell Physiol Biochem"}],"container-title":["Journal of Muscle Research and Cell Motility"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10974-024-09681-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10974-024-09681-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10974-024-09681-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,11]],"date-time":"2024-11-11T17:13:42Z","timestamp":1731345222000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10974-024-09681-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,10]]},"references-count":56,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["9681"],"URL":"https:\/\/doi.org\/10.1007\/s10974-024-09681-9","relation":{},"ISSN":["0142-4319","1573-2657"],"issn-type":[{"value":"0142-4319","type":"print"},{"value":"1573-2657","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8,10]]},"assertion":[{"value":"13 May 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 July 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 August 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}