{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T12:15:42Z","timestamp":1791029742349,"version":"4.1.0"},"reference-count":0,"publisher":"Portland Press Ltd.","issue":"3","content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[1994,8,1]]},"abstract":"<jats:p>Malignant hyperthermia (MH), an inherited neuromuscular disease triggered by halogenated inhalational anaesthetics and skeletal-muscle relaxants, appears to be due to an alteration of intracellular Ca2+ homoeostasis. MH occurs in 1 out of 20,000 anaesthetized adults and is characterized by hypermetabolism, skeletal-muscle rigidity and elevation in body temperature, which is frequently fatal [MacLennan and Phillips (1992) Science 256, 789-794]. The defect responsible for the disease may lie within the mechanism controlling the release of Ca2+ from sarcoplasmic reticulum via the ryanodine-receptor (RYR) Ca2+ channel; in fact a point mutation in the RYR has been associated with MH in some human families, as well as in the MH-susceptible pig. To date, however, no direct evidence has been obtained demonstrating that the point mutation is both necessary and sufficient to cause functional alterations in RYR-mediated Ca2+ release. In the present report we show that the presence of the Arg-to-Cys point mutation in the recombinant RYR expressed in COS-7 transfected cells causes abnormal cytosolic Ca2+ transients in response to 4-chloro-m-cresol, an agent capable of eliciting in vitro contracture of MH-susceptible muscles.<\/jats:p>","DOI":"10.1042\/bj3010661","type":"journal-article","created":{"date-parts":[[2015,8,10]],"date-time":"2015-08-10T21:38:33Z","timestamp":1439242713000},"page":"661-665","update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":55,"title":["Alteration of intracellular Ca2+ transients in COS-7 cells transfected with the cDNA encoding skeletal-muscle ryanodine receptor carrying a mutation associated with malignant hyperthermia"],"prefix":"10.1042","volume":"301","author":[{"given":"S","family":"Treves","sequence":"first","affiliation":[{"name":"Istituto di Patologia Generale, Universit\u00e0 degli Studi di Ferrara, Via Borsari 46, Ferrara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Larini","sequence":"additional","affiliation":[{"name":"Istituto di Patologia Generale, Universit\u00e0 degli Studi di Ferrara, Via Borsari 46, Ferrara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Menegazzi","sequence":"additional","affiliation":[{"name":"Istituto di Patologia Generale, Universit\u00e0 degli Studi di Ferrara, Via Borsari 46, Ferrara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T H","family":"Steinberg","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Infectious Disease Division, Washington University School of Medicine, St. Louis, MO, U.S.A."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Koval","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Infectious Disease Division, Washington University School of Medicine, St. Louis, MO, U.S.A."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Vilsen","sequence":"additional","affiliation":[{"name":"Institute of Physiology, University of Aarhus, Ole Worms A11\u00e9, Aarhus, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J P","family":"Andersen","sequence":"additional","affiliation":[{"name":"Institute of Physiology, University of Aarhus, Ole Worms A11\u00e9, Aarhus, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Zorzato","sequence":"additional","affiliation":[{"name":"Istituto di Patologia Generale, Universit\u00e0 degli Studi di Ferrara, Via Borsari 46, Ferrara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"288","container-title":["Biochemical Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/portlandpress.com\/biochemj\/article-pdf\/301\/3\/661\/613685\/bj3010661.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/portlandpress.com\/biochemj\/article-pdf\/301\/3\/661\/613685\/bj3010661.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,23]],"date-time":"2021-11-23T23:14:05Z","timestamp":1637709245000},"score":1,"resource":{"primary":{"URL":"https:\/\/portlandpress.com\/biochemj\/article\/301\/3\/661\/31234\/Alteration-of-intracellular-Ca2-transients-in-COS"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,8,1]]},"references-count":0,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1994,8,1]]}},"URL":"https:\/\/doi.org\/10.1042\/bj3010661","relation":{},"ISSN":["0264-6021","1470-8728"],"issn-type":[{"value":"0264-6021","type":"print"},{"value":"1470-8728","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,8,1]]}}}