{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T12:14:54Z","timestamp":1791029694809,"version":"4.1.0"},"reference-count":49,"publisher":"Wiley","issue":"22","license":[{"start":{"date-parts":[[2011,11,14]],"date-time":"2011-11-14T00:00:00Z","timestamp":1321228800000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Physiology"],"published-print":{"date-parts":[[2011,11]]},"abstract":"<jats:p><jats:bold>Non\u2010Technical Summary\u2002<\/jats:bold> Calcium ions flowing through the type 1 ryanodine receptor (RyR1) calcium channel trigger contraction of skeletal muscle cells. Close to 300 mutations of the gene encoding RyR1 are responsible for several muscular diseases in human. Properties of pathological mutant RyR1s have so far been essentially assessed from studies in cultured cells and in differentiated native muscle fibres from a few available transgenic mouse models. We show that functional properties of mutant RyR1s can be reliably assessed following <jats:italic>in vivo<\/jats:italic> expression in adult mouse muscles. The Y523S, R615C and R2163H RyR1 mutants produce a similar over\u2010sensitive activation of the calcium flux whereas I4897T RyR1 mutants are responsible for a depressed Ca<jats:sup>2+<\/jats:sup> flux. The alterations appear to result from inherent modifications of RyR1 channel function and not from indirect changes in the muscle fibre homeostasis. The present strategy will help understand the physio\u2010pathological defects underlying alterations of muscle function in affected patients.<\/jats:p>","DOI":"10.1113\/jphysiol.2011.216408","type":"journal-article","created":{"date-parts":[[2011,10,4]],"date-time":"2011-10-04T03:15:04Z","timestamp":1317698104000},"page":"5361-5382","source":"Crossref","is-referenced-by-count":24,"title":["Defects in Ca<sup>2+<\/sup> release associated with local expression of pathological ryanodine receptors in mouse muscle fibres"],"prefix":"10.1113","volume":"589","author":[{"given":"Romain","family":"Lefebvre","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Legrand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estela","family":"Gonz\u00e1lez\u2010Rodr\u00edguez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Groom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert T.","family":"Dirksen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Jacquemond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,11,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0812661106"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.118.3.277"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M009685200"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.200308791"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1474-9726.2010.00623.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.05-4497fje"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.8235594"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1385\/CBB:40:2:225"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3495(98)77584-8"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(02)00218-3"},{"key":"e_1_2_6_12_1","first-page":"1520","article-title":"DNA transfection of mammalian skeletal muscles using in vivo electroporation","volume":"32","author":"Di Franco M","year":"2009","journal-title":"J Vis Exp"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7793.2000.t01-1-00507.x"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1050-1738(02)00163-9"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1529\/biophysj.104.048447"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2008.167387"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M403612200"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1681.2006.04441.x"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2008.02.042"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.10.5885"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.09.009"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1213\/00000539-199209000-00022"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3495(97)78124-4"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2007.145862"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.201010523"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20409"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2004.08.031"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.7.4164"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200005)15:5<410::AID-HUMU2>3.0.CO;2-D"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2010.11.009"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1086\/301748"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-201x.2001.00840.x"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.106.2.259"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1529\/biophysj.105.078089"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1483"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.1991.71.3.849"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20356"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.201010454"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3495(98)77684-2"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2005.06.008"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.coph.2008.01.005"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.2174\/156652306778520656"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22119"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M701379200"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00133.2006"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000542-200612000-00016"},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M302165200"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.12.005"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0709312104"},{"key":"e_1_2_6_50_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0912126106"}],"container-title":["The Journal of Physiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1113%2Fjphysiol.2011.216408","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/physoc.onlinelibrary.wiley.com\/doi\/pdf\/10.1113\/jphysiol.2011.216408","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T01:10:03Z","timestamp":1698714603000},"score":1,"resource":{"primary":{"URL":"https:\/\/physoc.onlinelibrary.wiley.com\/doi\/10.1113\/jphysiol.2011.216408"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11]]},"references-count":49,"journal-issue":{"issue":"22","published-print":{"date-parts":[[2011,11]]}},"alternative-id":["10.1113\/jphysiol.2011.216408"],"URL":"https:\/\/doi.org\/10.1113\/jphysiol.2011.216408","archive":["Portico"],"relation":{},"ISSN":["0022-3751","1469-7793"],"issn-type":[{"value":"0022-3751","type":"print"},{"value":"1469-7793","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,11]]}}}