{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T13:25:28Z","timestamp":1790429128978,"version":"4.1.0"},"reference-count":52,"publisher":"Oxford University Press (OUP)","issue":"18","license":[{"start":{"date-parts":[[2019,5,20]],"date-time":"2019-05-20T00:00:00Z","timestamp":1558310400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["AR053349"],"award-info":[{"award-number":["AR053349"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes for Health Research","doi-asserted-by":"crossref","award":["363863"],"award-info":[{"award-number":["363863"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["380397"],"award-info":[{"award-number":["380397"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010474","name":"RYR-1 Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010474","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["380397"],"award-info":[{"award-number":["380397"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes for Health Research","doi-asserted-by":"crossref","award":["363863"],"award-info":[{"award-number":["363863"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["AR053349"],"award-info":[{"award-number":["AR053349"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Ryanodine receptor type I (RYR1)-related myopathies (RYR1 RM) are a clinically and histopathologically heterogeneous group of conditions that represent the most common subtype of childhood onset non-dystrophic muscle disorders. There are no treatments for this severe group of diseases. A major barrier to therapy development is the lack of an animal model that mirrors the clinical severity of pediatric cases of the disease. To address this, we used CRISPR\/Cas9 gene editing to generate a novel recessive mouse model of RYR1 RM. This mouse (Ryr1TM\/Indel) possesses a patient-relevant point mutation (T4706M) engineered into 1 allele and a 16 base pair frameshift deletion engineered into the second allele. Ryr1TM\/Indel mice exhibit an overt phenotype beginning at 14\u00a0days of age that consists of reduced body\/muscle mass and myofibre hypotrophy. Ryr1TM\/Indel mice become progressively inactive from that point onward and die at a median age of 42\u00a0days. Histopathological assessment shows myofibre hypotrophy, increased central nuclei and decreased triad number but no clear evidence of metabolic cores. Biochemical analysis reveals a marked decrease in RYR1 protein levels (20% of normal) as compared to only a 50% decrease in transcript. Functional studies at end stage show significantly reduced electrically evoked Ca2+ release and force production. In summary, Ryr1TM\/Indel mice exhibit a post-natal lethal recessive form of RYR1 RM that pheno-copies the severe congenital clinical presentation seen in a subgroup of RYR1 RM children. Thus, Ryr1TM\/Indel mice represent a powerful model for both establishing the pathomechanisms of recessive RYR1 RM and pre-clinical testing of therapies for efficacy.<\/jats:p>","DOI":"10.1093\/hmg\/ddz105","type":"journal-article","created":{"date-parts":[[2019,5,14]],"date-time":"2019-05-14T23:20:25Z","timestamp":1557876025000},"page":"3024-3036","source":"Crossref","is-referenced-by-count":35,"title":["Mouse model of severe recessive RYR1-related myopathy"],"prefix":"10.1093","volume":"28","author":[{"given":"Stephanie","family":"Brennan","sequence":"first","affiliation":[{"name":"Program for Genetics and Genome Biology, Hospital for Sick Children, 686 Bay St, Toronto, Ontario, M5G 0A4, Canada"},{"name":"Department of Molecular Genetics, University of Toronto, 686 Bay St, Toronto, Ontario, M5G 0A4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maricela","family":"Garcia-Casta\u00f1eda","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Physiology, University of Rochester, 601 Elmwood Avenue, Rochester, NY 14642 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Michelucci","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Physiology, University of Rochester, 601 Elmwood Avenue, Rochester, NY 14642 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nesrin","family":"Sabha","sequence":"additional","affiliation":[{"name":"Program for Genetics and Genome Biology, Hospital for Sick Children, 686 Bay St, Toronto, Ontario, M5G 0A4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sundeep","family":"Malik","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Physiology, University of Rochester, 601 Elmwood Avenue, Rochester, NY 14642 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Groom","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Physiology, University of Rochester, 601 Elmwood Avenue, Rochester, NY 14642 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lan","family":"Wei LaPierre","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Physiology, University of Rochester, 601 Elmwood Avenue, Rochester, NY 14642 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James J","family":"Dowling","sequence":"additional","affiliation":[{"name":"Program for Genetics and Genome Biology, Hospital for Sick Children, 686 Bay St, Toronto, Ontario, M5G 0A4, Canada"},{"name":"Department of Molecular Genetics, University of Toronto, 686 Bay St, Toronto, Ontario, M5G 0A4, Canada"},{"name":"Division of Neurology, Hospital for Sick Children, 686 Bay St, Toronto, Ontario, M5G 0A4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert T","family":"Dirksen","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Physiology, University of Rochester, 601 Elmwood Avenue, Rochester, NY 14642 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,5,20]]},"reference":[{"key":"2019091102482827400_ref1","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1007\/s13311-018-00677-1","article-title":"Ryanodine receptor 1-related myopathies: diagnostic and therapeutic approaches","volume":"15","author":"Lawal","year":"2018","journal-title":"Neurotherapeutics"},{"key":"2019091102482827400_ref2","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1016\/B978-0-444-64076-5.00036-3","article-title":"The genetics of congenital myopathies","volume":"148","author":"Gonorazky","year":"2018","journal-title":"Handb. Clin. Neurol."},{"key":"2019091102482827400_ref3","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1038\/nrneurol.2017.191","article-title":"Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction","volume":"14","author":"Jungbluth","year":"2018","journal-title":"Nat. Rev. Neurol."},{"key":"2019091102482827400_ref4","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1007\/s10974-017-9470-z","article-title":"Physiology and pathophysiology of excitation\u2013contraction coupling: the functional role of ryanodine receptor","volume":"38","author":"Santulli","year":"2017","journal-title":"J. Muscle Res. Cell Motil."},{"key":"2019091102482827400_ref5","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1016\/j.nmd.2016.06.001","article-title":"217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29\u201331 January 2016","volume":"26","author":"Jungbluth","year":"2016","journal-title":"Neuromuscul. 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