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The DG mutation causes CASQ1 to partially dissociate from the junctional sarcoplasmic reticulum (SR) and accumulate in the endoplasmic reticulum (ER). Decreased junctional CASQ1 reduces SR Ca\n                    <jats:sup>2+<\/jats:sup>\n                    release. Muscles from older DG mice display ER stress, ER expansion, increased mTOR signaling, inadequate clearance of aggregated proteins by the proteasomes, and elevation of protein aggregates and lysosomes. This study suggests that the myopathy associated with the D244G mutation in CASQ1 is driven by CASQ1 mislocalization, reduced SR Ca\n                    <jats:sup>2+<\/jats:sup>\n                    release, CASQ1 misfolding\/aggregation and ER stress. The subsequent maladaptive increase in protein synthesis and decreased protein aggregate clearance are likely to contribute to disease progression.\n                  <\/jats:p>","DOI":"10.1096\/fj.202001653rr","type":"journal-article","created":{"date-parts":[[2021,3,30]],"date-time":"2021-03-30T22:06:51Z","timestamp":1617142011000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Pathological mechanisms of vacuolar aggregate myopathy arising from a\n                    <i>Casq1<\/i>\n                    mutation"],"prefix":"10.1096","volume":"35","author":[{"given":"Amy D.","family":"Hanna","sequence":"first","affiliation":[{"name":"Department of Molecular Physiology and Biophysics Baylor College of Medicine Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chang Seok","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Molecular Physiology and Biophysics 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