Cryo-EM investigation of ryanodine receptor type 3.

Autor: Chen YS; Department of Biochemistry and Molecular Biology, the Life Sciences Centre, University of British Columbia, Vancouver, BC, Canada., Garcia-Castañeda M; Department of Biochemistry and Molecular Biology, the Life Sciences Centre, University of British Columbia, Vancouver, BC, Canada., Charalambous M; Department of Biochemistry and Molecular Biology, the Life Sciences Centre, University of British Columbia, Vancouver, BC, Canada., Rossi D; Department of Molecular and Developmental Medicine, University of Siena, Siena, Italy., Sorrentino V; Department of Molecular and Developmental Medicine, University of Siena, Siena, Italy., Van Petegem F; Department of Biochemistry and Molecular Biology, the Life Sciences Centre, University of British Columbia, Vancouver, BC, Canada. filip.vanpetegem@ubc.ca.

Publikováno v: Nature communications [Nat Commun] 2024 Oct 05; Vol. 15 (1), pp. 8630. Date of Electronic Publication: 2024 Oct 05.

P.239Therapy development for RYR1 related myopathies

Autor: Onofre-Oliveira, P., Brennan, S., Volpatti, J., Garcia-Castaneda, M., Michelucci, A., Groom, L., Sabha, N., Dirksen, R., Dowling, J.

Publikováno v: In Neuromuscular Disorders October 2019 29 Supplement 1:S136-S136

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Mouse model of severe recessive RYR1-related myopathy.

Autor: Brennan S; Program for Genetics and Genome Biology, Hospital for Sick Children, 686 Bay St, Toronto, Ontario, M5G 0A4, Canada.; Department of Molecular Genetics, University of Toronto, 686 Bay St, Toronto, Ontario, M5G 0A4, Canada., Garcia-Castañeda M; Department of Pharmacology and Physiology, University of Rochester, 601 Elmwood Avenue, Rochester, NY 14642 USA., Michelucci A; Department of Pharmacology and Physiology, University of Rochester, 601 Elmwood Avenue, Rochester, NY 14642 USA., Sabha N; Program for Genetics and Genome Biology, Hospital for Sick Children, 686 Bay St, Toronto, Ontario, M5G 0A4, Canada., Malik S; Department of Pharmacology and Physiology, University of Rochester, 601 Elmwood Avenue, Rochester, NY 14642 USA., Groom L; Department of Pharmacology and Physiology, University of Rochester, 601 Elmwood Avenue, Rochester, NY 14642 USA., Wei LaPierre L; Department of Pharmacology and Physiology, University of Rochester, 601 Elmwood Avenue, Rochester, NY 14642 USA., Dowling JJ; Program for Genetics and Genome Biology, Hospital for Sick Children, 686 Bay St, Toronto, Ontario, M5G 0A4, Canada.; Department of Molecular Genetics, University of Toronto, 686 Bay St, Toronto, Ontario, M5G 0A4, Canada.; Division of Neurology, Hospital for Sick Children, 686 Bay St, Toronto, Ontario, M5G 0A4, Canada., Dirksen RT; Department of Pharmacology and Physiology, University of Rochester, 601 Elmwood Avenue, Rochester, NY 14642 USA.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2019 Sep 15; Vol. 28 (18), pp. 3024-3036.

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