{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T19:34:01Z","timestamp":1790278441626,"version":"4.1.0"},"reference-count":70,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2021,7,8]],"date-time":"2021-07-08T00:00:00Z","timestamp":1625702400000},"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":["22734"],"award-info":[{"award-number":["22734"]}],"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","award":["PLP20170939073"],"award-info":[{"award-number":["PLP20170939073"]}],"id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Store-operated Ca2+ entry (SOCE) is a ubiquitous mechanism regulating extracellular Ca2+ entry to control a multitude of Ca2+-dependent signaling pathways and cellular processes. SOCE relies on the concerted activity of the reticular Ca2+ sensor STIM1 and the plasma membrane Ca2+ channel ORAI1, and dysfunctions of these key factors result in human pathologies. STIM1 and ORAI1 gain-of-function (GoF) mutations induce excessive Ca2+ influx through SOCE over-activation, and cause tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK), two overlapping disorders characterized by muscle weakness and additional multi-systemic signs affecting growth, platelets, spleen, skin, and intellectual abilities. In order to investigate the pathophysiological effect of overactive SOCE on muscle function and structure, we combined transcriptomics with morphological and functional studies on a TAM\/STRMK mouse model. Muscles from Stim1R304W\/+ mice displayed aberrant expression profiles of genes implicated in Ca2+ handling and excitation-contraction coupling (ECC), and in vivo investigations evidenced delayed muscle contraction and relaxation kinetics. We also identified signs of reticular stress and abnormal mitochondrial activity, and histological and respirometric analyses on muscle samples revealed enhanced myofiber degeneration associated with reduced mitochondrial respiration. Taken together, we uncovered a molecular disease signature and deciphered the pathomechanism underlying the functional and structural muscle anomalies characterizing TAM\/STRMK.<\/jats:p>","DOI":"10.3390\/cells10071730","type":"journal-article","created":{"date-parts":[[2021,7,8]],"date-time":"2021-07-08T10:42:17Z","timestamp":1625740937000},"page":"1730","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Pathophysiological Effects of Overactive STIM1 on Murine Muscle Function and Structure"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0349-4283","authenticated-orcid":false,"given":"Roberto","family":"Silva-Rojas","sequence":"first","affiliation":[{"name":"IGBMC (Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire), Inserm U1258, CNRS UMR7104, Universit\u00e9 de Strasbourg, 67404 Illkirch, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3557-2642","authenticated-orcid":false,"given":"Anne-Laure","family":"Charles","sequence":"additional","affiliation":[{"name":"F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg, Facult\u00e9 de M\u00e9decine, Institut de Physiologie, Equipe d\u2019Accueil UR3072 \u201cMitochondrie, Stress Oxydant et Protection Musculaire\u201d, Universit\u00e9 de Strasbourg, 67000 Strasbourg, France"},{"name":"Service de Physiologie et d\u2019Explorations Fonctionnelles, P\u00f4le de Pathologie Thoracique, Nouvel H\u00f4pital Civil, CHRU de Strasbourg, 67000 Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Djeddi","sequence":"additional","affiliation":[{"name":"IGBMC (Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire), Inserm U1258, CNRS UMR7104, Universit\u00e9 de Strasbourg, 67404 Illkirch, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Geny","sequence":"additional","affiliation":[{"name":"F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg, Facult\u00e9 de M\u00e9decine, Institut de Physiologie, Equipe d\u2019Accueil UR3072 \u201cMitochondrie, Stress Oxydant et Protection Musculaire\u201d, Universit\u00e9 de Strasbourg, 67000 Strasbourg, France"},{"name":"Service de Physiologie et d\u2019Explorations Fonctionnelles, P\u00f4le de Pathologie Thoracique, Nouvel H\u00f4pital Civil, CHRU de Strasbourg, 67000 Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8256-5862","authenticated-orcid":false,"given":"Jocelyn","family":"Laporte","sequence":"additional","affiliation":[{"name":"IGBMC (Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire), Inserm U1258, CNRS UMR7104, Universit\u00e9 de Strasbourg, 67404 Illkirch, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johann","family":"B\u00f6hm","sequence":"additional","affiliation":[{"name":"IGBMC (Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire), Inserm U1258, CNRS UMR7104, Universit\u00e9 de Strasbourg, 67404 Illkirch, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,7,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1038\/nrm1155","article-title":"Calcium signalling: Dynamics, homeostasis and remodelling","volume":"4","author":"Berridge","year":"2003","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_2","doi-asserted-by":"crossref","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":"ref_3","doi-asserted-by":"crossref","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":"ref_4","doi-asserted-by":"crossref","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 Calcium"},{"key":"ref_5","doi-asserted-by":"crossref","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":"ref_6","doi-asserted-by":"crossref","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":"ref_7","doi-asserted-by":"crossref","first-page":"604941","DOI":"10.3389\/fphys.2020.604941","article-title":"STIM1\/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases","volume":"11","author":"Laporte","year":"2020","journal-title":"Front. Physiol."},{"key":"ref_8","doi-asserted-by":"crossref","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":"ref_9","doi-asserted-by":"crossref","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":"ref_10","doi-asserted-by":"crossref","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":"ref_11","doi-asserted-by":"crossref","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. USA"},{"key":"ref_12","doi-asserted-by":"crossref","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":"ref_13","doi-asserted-by":"crossref","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":"ref_14","doi-asserted-by":"crossref","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 Ca2+ channels","volume":"24","author":"Endo","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","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":"ref_16","doi-asserted-by":"crossref","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":"ref_17","doi-asserted-by":"crossref","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":"ref_18","doi-asserted-by":"crossref","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":"ref_19","doi-asserted-by":"crossref","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":"ref_20","doi-asserted-by":"crossref","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":"Treves","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1093\/bioinformatics\/bts635","article-title":"STAR: Ultrafast universal RNA-seq aligner","volume":"29","author":"Dobin","year":"2013","journal-title":"Bioinformatics"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1093\/bioinformatics\/btu638","article-title":"HTSeq\u2014A Python framework to work with high-throughput sequencing data","volume":"31","author":"Anders","year":"2015","journal-title":"Bioinformatics"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1186\/s13059-014-0550-8","article-title":"Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2","volume":"15","author":"Love","year":"2014","journal-title":"Genome Biol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1089\/omi.2011.0118","article-title":"clusterProfiler: An R package for comparing biological themes among gene clusters","volume":"16","author":"Yu","year":"2012","journal-title":"OMICS"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1186\/s13395-018-0171-0","article-title":"MuscleJ: A high-content analysis method to study skeletal muscle with a new Fiji tool","volume":"8","author":"Hardy","year":"2018","journal-title":"Skelet. Muscle"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1016\/j.cmet.2010.09.016","article-title":"The transcriptional coregulators TIF2 and SRC-1 regulate energy homeostasis by modulating mitochondrial respiration in skeletal muscles","volume":"12","author":"Duteil","year":"2010","journal-title":"Cell Metab."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1016\/j.jvs.2011.07.084","article-title":"Remote and local ischemic preconditioning equivalently protects rat skeletal muscle mitochondrial function during experimental aortic cross-clamping","volume":"55","author":"Mansour","year":"2012","journal-title":"J. Vasc. Surg."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1038\/cdd.2015.171","article-title":"Cell death, clearance and immunity in the skeletal muscle","volume":"23","author":"Sciorati","year":"2016","journal-title":"Cell Death Differ."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1038\/242244a0","article-title":"Voltage dependent charge movement of skeletal muscle: A possible step in excitation-contraction coupling","volume":"242","author":"Schneider","year":"1973","journal-title":"Nature"},{"key":"ref_30","doi-asserted-by":"crossref","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":"ref_31","doi-asserted-by":"crossref","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":"ref_32","doi-asserted-by":"crossref","first-page":"1744","DOI":"10.1073\/pnas.47.11.1744","article-title":"Calcium uptake by rat kidney mitochondria","volume":"47","author":"Deluca","year":"1961","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1038\/nrm3412","article-title":"Mitochondria as sensors and regulators of calcium signalling","volume":"13","author":"Rizzuto","year":"2012","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1002\/mus.20512","article-title":"Sarcoplasmic reticulum: The dynamic calcium governor of muscle","volume":"33","author":"Rossi","year":"2006","journal-title":"Muscle Nerve"},{"key":"ref_35","doi-asserted-by":"crossref","unstructured":"Bahar, E., Kim, H., and Yoon, H. (2016). ER Stress-Mediated Signaling: Action Potential and Ca2+ as Key Players. Int. J. Mol. Sci., 17.","DOI":"10.3390\/ijms17091558"},{"key":"ref_36","first-page":"467","article-title":"The distribution and relative sized of fibre types in the extensor digitorum longus and soleus muscles of the adult rat","volume":"123","author":"Pullen","year":"1977","journal-title":"J. Anat."},{"key":"ref_37","first-page":"1","article-title":"The distribution and relative sizes of three histochemical fibre types in the rat tibialis anterior muscle","volume":"123","author":"Pullen","year":"1977","journal-title":"J. Anat."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"6053","DOI":"10.1113\/jphysiol.2013.265900","article-title":"Endogenous and maximal sarcoplasmic reticulum calcium content and calsequestrin expression in type I and type II human skeletal muscle fibres","volume":"591","author":"Lamboley","year":"2013","journal-title":"J. Physiol."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1916","DOI":"10.1096\/fj.02-1012fje","article-title":"Decrease in resting calcium and calcium entry associated with slow-to-fast transition in unloaded rat soleus muscle","volume":"17","author":"Fraysse","year":"2003","journal-title":"FASEB J."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1152\/physrev.1997.77.4.901","article-title":"Store depletion and calcium influx","volume":"77","author":"Parekh","year":"1997","journal-title":"Physiol. Rev."},{"key":"ref_41","first-page":"1547","article-title":"Restricting calcium currents is required for correct fiber type specification in skeletal muscle","volume":"143","author":"Sultana","year":"2016","journal-title":"Development"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1007\/BF00220017","article-title":"A combined histochemical and immunohistochemical study on the dynamics of fast-to-slow fiber transformation in chronically stimulated rabbit muscle","volume":"254","author":"Maier","year":"1988","journal-title":"Cell Tissue Res."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.spen.2011.10.005","article-title":"Core myopathies","volume":"18","author":"Jungbluth","year":"2011","journal-title":"Semin. Pediatr. Neurol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1085\/jgp.118.3.277","article-title":"Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor","volume":"118","author":"Avila","year":"2001","journal-title":"J. Gen. Physiol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/S1050-1738(02)00163-9","article-title":"Altered ryanodine receptor function in central core disease: Leaky or uncoupled Ca2+ release channels?","volume":"12","author":"Dirksen","year":"2002","journal-title":"Trends Cardiovasc. Med."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/j.nmd.2012.08.007","article-title":"Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease","volume":"23","author":"Kraeva","year":"2013","journal-title":"Neuromuscul. Disord."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"289","DOI":"10.3233\/JND-180314","article-title":"Abnormal Excitation-Contraction Coupling and Calcium Homeostasis in Myopathies and Cardiomyopathies","volume":"6","author":"Schartner","year":"2019","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"635063","DOI":"10.3389\/fcell.2021.635063","article-title":"Gain-of-Function STIM1 L96V Mutation Causes Myogenesis Alteration in Muscle Cells from a Patient Affected by Tubular Aggregate Myopathy","volume":"9","author":"Conte","year":"2021","journal-title":"Front. Cell Dev. Biol."},{"key":"ref_49","doi-asserted-by":"crossref","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":"ref_50","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1086\/301748","article-title":"Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: Genotype-phenotype correlation","volume":"62","author":"Manning","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1016\/0888-7543(91)90084-R","article-title":"A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia","volume":"11","author":"Gillard","year":"1991","journal-title":"Genomics"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1093\/bja\/34.6.395","article-title":"Anaesthetic deaths in a family","volume":"34","author":"Denborough","year":"1962","journal-title":"Br. J. Anaesth."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1126\/science.256.5058.789","article-title":"Malignant hyperthermia","volume":"256","author":"MacLennan","year":"1992","journal-title":"Science"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"7923","DOI":"10.1073\/pnas.1119207109","article-title":"Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptor","volume":"109","author":"Eltit","year":"2012","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"C1094","DOI":"10.1152\/ajpcell.00173.2004","article-title":"Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling","volume":"287","author":"Weiss","year":"2004","journal-title":"Am. J. Physiol. Cell Physiol."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"6105","DOI":"10.4081\/ejtm.2016.6105","article-title":"Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery","volume":"26","author":"Lavorato","year":"2016","journal-title":"Eur. J. Transl. Myol."},{"key":"ref_57","first-page":"dmm041111","article-title":"A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy","volume":"13","author":"Riva","year":"2019","journal-title":"Dis. Models Mech."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"1710","DOI":"10.1096\/fj.08-121335","article-title":"Anesthetic- and heat-induced sudden death in calsequestrin-1-knockout mice","volume":"23","author":"Dainese","year":"2009","journal-title":"FASEB J."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"14659","DOI":"10.1038\/ncomms14659","article-title":"A chemical chaperone improves muscle function in mice with a RyR1 mutation","volume":"8","author":"Lee","year":"2017","journal-title":"Nat. Commun."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"1679","DOI":"10.1074\/jbc.M111.254045","article-title":"Role of Junctin protein interactions in cellular dynamics of calsequestrin polymer upon calcium perturbation","volume":"287","author":"Lee","year":"2012","journal-title":"J. Biol. Chem."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"11349","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":"ref_62","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1126\/science.1191027","article-title":"The CRAC channel activator STIM1 binds and inhibits L-type voltage-gated calcium channels","volume":"330","author":"Park","year":"2010","journal-title":"Science"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"1402","DOI":"10.1038\/cdd.2015.65","article-title":"Genetic evidence in the mouse solidifies the calcium hypothesis of myofiber death in muscular dystrophy","volume":"22","author":"Burr","year":"2015","journal-title":"Cell Death Differ."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/0304-4165(95)00180-8","article-title":"The sarcoplasmic reticulum calcium pump is functionally altered in dystrophic muscle","volume":"1290","author":"Kargacin","year":"1996","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1139\/apnm-2016-0173","article-title":"Sodium 4-phenylbutyrate reduces myofiber damage in a mouse model of Duchenne muscular dystrophy","volume":"41","author":"Begam","year":"2016","journal-title":"Appl. Physiol. Nutr. Metab."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1038\/sj.bjp.0703907","article-title":"Alteration of excitation-contraction coupling mechanism in extensor digitorum longus muscle fibres of dystrophic mdx mouse and potential efficacy of taurine","volume":"132","author":"Pierno","year":"2001","journal-title":"Br. J. Pharmacol."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1172\/JCI43844","article-title":"Mitigation of muscular dystrophy in mice by SERCA overexpression in skeletal muscle","volume":"121","author":"Goonasekera","year":"2011","journal-title":"J. Clin. Investig."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"3095","DOI":"10.1113\/JP271418","article-title":"Increasing taurine intake and taurine synthesis improves skeletal muscle function in the mdx mouse model for Duchenne muscular dystrophy","volume":"594","author":"Terrill","year":"2016","journal-title":"J. Physiol."},{"key":"ref_69","doi-asserted-by":"crossref","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. Investig."},{"key":"ref_70","doi-asserted-by":"crossref","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 Calcium"}],"container-title":["Cells"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4409\/10\/7\/1730\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:28:00Z","timestamp":1760164080000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4409\/10\/7\/1730"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,8]]},"references-count":70,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2021,7]]}},"alternative-id":["cells10071730"],"URL":"https:\/\/doi.org\/10.3390\/cells10071730","relation":{},"ISSN":["2073-4409"],"issn-type":[{"value":"2073-4409","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,8]]}}}