{"id":"https://openalex.org/W2292114293","doi":"https://doi.org/10.1016/j.bpj.2015.11.601","title":"Characterization of Two Human Skeletal Calsequestrin Mutants Implicated in Malignant Hyperthermia and Vaculolar Aggreagtes Myopathy","display_name":"Characterization of Two Human Skeletal Calsequestrin Mutants Implicated in Malignant Hyperthermia and Vaculolar Aggreagtes Myopathy","publication_year":2016,"publication_date":"2016-02-01","ids":{"openalex":"https://openalex.org/W2292114293","doi":"https://doi.org/10.1016/j.bpj.2015.11.601","mag":"2292114293"},"language":"en","primary_location":{"id":"doi:10.1016/j.bpj.2015.11.601","doi":"https://doi.org/10.1016/j.bpj.2015.11.601","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.bpj.2015.11.601","pdf_url":"http://www.cell.com/article/S0006349515017841/pdf","source":{"id":"https://openalex.org/S98085912","display_name":"Biophysical Journal","issn_l":"0006-3495","issn":["0006-3495","1542-0086"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biophysical Journal","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"http://www.cell.com/article/S0006349515017841/pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5011714569","display_name":"Eduardo R\u0131\u0301os","orcid":"https://orcid.org/0000-0003-0985-8997","observed_orcids":["https://orcid.org/0000-0003-0985-8997"]},"institutions":[{"id":"https://openalex.org/I49886154","display_name":"Rush University","ror":"https://ror.org/01k9xac83","country_code":"US","type":"education","lineage":["https://openalex.org/I49886154"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Eduardo Rios","raw_affiliation_strings":["Molec. Biophys. & Physiology, Rush University, Chicago, IL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molec. Biophys. & Physiology, Rush University, Chicago, IL, USA","institution_ids":["https://openalex.org/I49886154"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087884831","display_name":"Kevin M. Lewis","orcid":"https://orcid.org/0000-0003-3403-9520","observed_orcids":["https://orcid.org/0000-0003-3403-9520"]},"institutions":[{"id":"https://openalex.org/I72951846","display_name":"Washington State University","ror":"https://ror.org/05dk0ce17","country_code":"US","type":"education","lineage":["https://openalex.org/I72951846"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kevin M. Lewis","raw_affiliation_strings":["Chemistry, Washington State University, Pullman, WA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Chemistry, Washington State University, Pullman, WA, USA","institution_ids":["https://openalex.org/I72951846"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013121212","display_name":"Leslie A. Ronish","orcid":"https://orcid.org/0000-0003-1070-5779","observed_orcids":["https://orcid.org/0000-0003-1070-5779"]},"institutions":[{"id":"https://openalex.org/I72951846","display_name":"Washington State University","ror":"https://ror.org/05dk0ce17","country_code":"US","type":"education","lineage":["https://openalex.org/I72951846"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Leslie A. Ronish","raw_affiliation_strings":["Chemistry, Washington State University, Pullman, WA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Chemistry, Washington State University, Pullman, WA, USA","institution_ids":["https://openalex.org/I72951846"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5071667418","display_name":"ChulHee Kang","orcid":"https://orcid.org/0000-0002-0693-7860","observed_orcids":["https://orcid.org/0000-0002-0693-7860"]},"institutions":[{"id":"https://openalex.org/I72951846","display_name":"Washington State University","ror":"https://ror.org/05dk0ce17","country_code":"US","type":"education","lineage":["https://openalex.org/I72951846"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"ChulHee Kang","raw_affiliation_strings":["Chemistry, Washington State University, Pullman, WA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Chemistry, Washington State University, Pullman, WA, USA","institution_ids":["https://openalex.org/I72951846"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3000,"currency":"USD","value_usd":3000},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.00694977,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"110","issue":"3","first_page":"101a","last_page":"101a"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.4207000136375427,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.4207000136375427,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10493","display_name":"Ion channel regulation and function","score":0.3456999957561493,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.08269999921321869,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/calsequestrin-1","display_name":"CASQ1","score":0.9700000286102295},{"id":"https://openalex.org/keywords/malignant-hyperthermia","display_name":"malignant hyperthermia","score":0.9049999713897705},{"id":"https://openalex.org/keywords/calcium-binding","display_name":"calcium binding","score":0.7269999980926514},{"id":"https://openalex.org/keywords/protein-aggregation","display_name":"protein aggregation","score":0.9079999923706055},{"id":"https://openalex.org/keywords/sarcoplasmic-reticulum","display_name":"sarcoplasmic reticulum","score":0.9330000281333923},{"id":"https://openalex.org/keywords/protein-crystal-structure","display_name":"protein crystal structure","score":0.6639999747276306},{"id":"https://openalex.org/keywords/tetramerization","display_name":"tetramerization","score":0.7929999828338623},{"id":"https://openalex.org/keywords/skeletal-myopathy","display_name":"skeletal myopathy","score":0.6520000100135803}],"concepts":[{"id":"https://openalex.org/C2775953344","wikidata":"https://www.wikidata.org/wiki/Q24774223","display_name":"Calsequestrin","level":4,"score":0.7525880336761475},{"id":"https://openalex.org/C2779959927","wikidata":"https://www.wikidata.org/wiki/Q1048687","display_name":"Skeletal muscle","level":2,"score":0.625374436378479},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.6164962649345398},{"id":"https://openalex.org/C2778575482","wikidata":"https://www.wikidata.org/wiki/Q1585081","display_name":"Malignant hyperthermia","level":2,"score":0.5620842576026917},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.5459543466567993},{"id":"https://openalex.org/C2776333580","wikidata":"https://www.wikidata.org/wiki/Q18031340","display_name":"RYR1","level":4,"score":0.5225502848625183},{"id":"https://openalex.org/C12554922","wikidata":"https://www.wikidata.org/wiki/Q7100","display_name":"Biophysics","level":1,"score":0.5025160312652588},{"id":"https://openalex.org/C158617107","wikidata":"https://www.wikidata.org/wiki/Q79927","display_name":"Endoplasmic reticulum","level":2,"score":0.46864694356918335},{"id":"https://openalex.org/C2779201268","wikidata":"https://www.wikidata.org/wiki/Q186474","display_name":"Cysteine","level":3,"score":0.4654707610607147},{"id":"https://openalex.org/C2777300911","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Myopathy","level":2,"score":0.4195564389228821},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.41505375504493713},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.3662470281124115},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3294934928417206},{"id":"https://openalex.org/C113217602","wikidata":"https://www.wikidata.org/wiki/Q416781","display_name":"Ryanodine receptor","level":3,"score":0.20995444059371948},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.1681581437587738},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.14226970076560974},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.12224110960960388},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09208464622497559},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.08360317349433899},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.0735008716583252}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.bpj.2015.11.601","doi":"https://doi.org/10.1016/j.bpj.2015.11.601","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.bpj.2015.11.601","pdf_url":"http://www.cell.com/article/S0006349515017841/pdf","source":{"id":"https://openalex.org/S98085912","display_name":"Biophysical Journal","issn_l":"0006-3495","issn":["0006-3495","1542-0086"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biophysical Journal","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1016/j.bpj.2015.11.601","doi":"https://doi.org/10.1016/j.bpj.2015.11.601","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.bpj.2015.11.601","pdf_url":"http://www.cell.com/article/S0006349515017841/pdf","source":{"id":"https://openalex.org/S98085912","display_name":"Biophysical Journal","issn_l":"0006-3495","issn":["0006-3495","1542-0086"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biophysical Journal","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.7246000170707703,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2292114293.pdf"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2172453705","https://openalex.org/W2399053132","https://openalex.org/W2737761070","https://openalex.org/W2008310986","https://openalex.org/W3147506753","https://openalex.org/W6977948710","https://openalex.org/W4388945941","https://openalex.org/W2620796523","https://openalex.org/W2053874837","https://openalex.org/W6945529094"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-09-22T06:50:58.402377","created_date":"2016-06-24T00:00:00"}