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http://purl.uniprot.org/citations/33786938http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/33786938http://www.w3.org/2000/01/rdf-schema#comment"Mice with a mutation (D244G, DG) in calsequestrin 1 (CASQ1), analogous to a human mutation in CASQ1 associated with a delayed onset human myopathy (vacuolar aggregate myopathy), display a progressive myopathy characterized by decreased activity, decreased ability of fast twitch muscles to generate force and low body weight after one year of age. 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 Ca2+ 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 Ca2+ 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."xsd:string
http://purl.uniprot.org/citations/33786938http://purl.org/dc/terms/identifier"doi:10.1096/fj.202001653rr"xsd:string
http://purl.uniprot.org/citations/33786938http://purl.uniprot.org/core/author"Wang H."xsd:string
http://purl.uniprot.org/citations/33786938http://purl.uniprot.org/core/author"Lee C.S."xsd:string
http://purl.uniprot.org/citations/33786938http://purl.uniprot.org/core/author"Hamilton S.L."xsd:string
http://purl.uniprot.org/citations/33786938http://purl.uniprot.org/core/author"Recio J."xsd:string
http://purl.uniprot.org/citations/33786938http://purl.uniprot.org/core/author"Hanna A.D."xsd:string
http://purl.uniprot.org/citations/33786938http://purl.uniprot.org/core/author"Babcock L."xsd:string
http://purl.uniprot.org/citations/33786938http://purl.uniprot.org/core/date"2021"xsd:gYear
http://purl.uniprot.org/citations/33786938http://purl.uniprot.org/core/name"FASEB J"xsd:string
http://purl.uniprot.org/citations/33786938http://purl.uniprot.org/core/pages"e21349"xsd:string
http://purl.uniprot.org/citations/33786938http://purl.uniprot.org/core/title"Pathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation."xsd:string
http://purl.uniprot.org/citations/33786938http://purl.uniprot.org/core/volume"35"xsd:string
http://purl.uniprot.org/citations/33786938http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/33786938
http://purl.uniprot.org/citations/33786938http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/33786938
http://purl.uniprot.org/uniprot/#_E9Q489-mappedCitation-33786938http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/33786938
http://purl.uniprot.org/uniprot/#_O09165-mappedCitation-33786938http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/33786938
http://purl.uniprot.org/uniprot/#_Q6P3C3-mappedCitation-33786938http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/33786938
http://purl.uniprot.org/uniprot/#_Q8C7M8-mappedCitation-33786938http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/33786938
http://purl.uniprot.org/uniprot/#_Q925P6-mappedCitation-33786938http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/33786938
http://purl.uniprot.org/uniprot/Q6P3C3http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/33786938
http://purl.uniprot.org/uniprot/E9Q489http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/33786938
http://purl.uniprot.org/uniprot/Q925P6http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/33786938
http://purl.uniprot.org/uniprot/Q8C7M8http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/33786938