{"doi":"10.17615/a9yp-1v09","title":"Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy","abstract":"Excitation-contraction coupling, the process that regulates contractions by skeletal muscles, transduces changes in membrane voltage by activating release of Ca2+ from internal stores to initiate muscle contraction. Defects in EC coupling are associated with muscle diseases. Here we identify Stac3 as a novel component of the EC coupling machinery. Using a zebrafish genetic screen, we generate a locomotor mutation that is mapped to stac3. We provide electrophysiological, Ca2+ imaging, immunocytochemical and biochemical evidence that Stac3 participates in excitation-contraction coupling in muscles. Furthermore, we reveal that a mutation in human STAC3 as the genetic basis of the debilitating Native American myopathy (NAM). Analysis of NAM stac3 in zebrafish shows that the NAM mutation decreases excitation-contraction coupling. These findings enhance our understanding of both excitation-contraction coupling and the pathology of myopathies.","journal":"UNC Libraries","year":2020,"id":135949,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9516,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":593518,"name":"Akhila Satish","orcid":"0000-0001-5690-8518","position":1,"is_corresponding":false},{"id":594248,"name":"Wilson W. Cui","orcid":null,"position":2,"is_corresponding":false},{"id":217087,"name":"John Y. Kuwada","orcid":null,"position":3,"is_corresponding":false},{"id":594249,"name":"Weibin Zhou","orcid":null,"position":4,"is_corresponding":false},{"id":594250,"name":"Louis Saint‐Amant","orcid":null,"position":5,"is_corresponding":false},{"id":594251,"name":"Demetra S. Stamm","orcid":null,"position":6,"is_corresponding":false},{"id":6853,"name":"Michael A. Hauser","orcid":"0000-0003-2667-5420","position":7,"is_corresponding":false},{"id":594252,"name":"McDonald, Kristin K.","orcid":null,"position":8,"is_corresponding":false},{"id":594253,"name":"Shawn M. Sprague","orcid":null,"position":9,"is_corresponding":false},{"id":594254,"name":"Marcy C. Speer","orcid":null,"position":10,"is_corresponding":false},{"id":594255,"name":"Clara Franzini‐Armstrong","orcid":null,"position":11,"is_corresponding":false},{"id":313815,"name":"Cynthia M. Powell","orcid":"0000-0002-4260-5601","position":12,"is_corresponding":false},{"id":593519,"name":"Hiromi Hirata","orcid":"0000-0002-3769-7441","position":13,"is_corresponding":false},{"id":332235,"name":"Eric J. Horstick","orcid":"0000-0003-3846-7450","position":14,"is_corresponding":false},{"id":593520,"name":"Jeremy W. Linsley","orcid":"0000-0001-6464-8728","position":15,"is_corresponding":false},{"id":24940,"name":"Allison E. Ashley‐Koch","orcid":"0000-0001-5409-9155","position":16,"is_corresponding":false},{"id":287557,"name":"James J. Dowling","orcid":"0000-0002-3984-4169","position":0,"is_corresponding":true}],"reference_count":0,"raw_metadata":null,"created_at":"2026-07-18T23:16:35.237665Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}