Reduced threshold for store overload-induced Ca<sup>2+</sup> release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease.

Chen, Wenqian; Koop, Andrea; Liu, Yingjie; Guo, Wenting; Wei, Jinhong; Wang, Ruiwu; MacLennan, David H; Dirksen, Robert T; Chen, Sui Rong Wayne

Reduced threshold for store overload-induced Ca²⁺ release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease.

Chen, Wenqian; Koop, Andrea; Liu, Yingjie; Guo, Wenting; Wei, Jinhong; Wang, Ruiwu; MacLennan, David H; Dirksen, Robert T; Chen, Sui Rong Wayne.

Afiliación

Chen W; Libin Cardiovascular Institute of Alberta, Department of Physiology and Pharmacology, University of Calgary, Calgary, Alberta T2N 4N1, Canada.
Koop A; Libin Cardiovascular Institute of Alberta, Department of Physiology and Pharmacology, University of Calgary, Calgary, Alberta T2N 4N1, Canada.
Liu Y; Libin Cardiovascular Institute of Alberta, Department of Physiology and Pharmacology, University of Calgary, Calgary, Alberta T2N 4N1, Canada.
Guo W; Libin Cardiovascular Institute of Alberta, Department of Physiology and Pharmacology, University of Calgary, Calgary, Alberta T2N 4N1, Canada.
Wei J; Libin Cardiovascular Institute of Alberta, Department of Physiology and Pharmacology, University of Calgary, Calgary, Alberta T2N 4N1, Canada.
Wang R; Libin Cardiovascular Institute of Alberta, Department of Physiology and Pharmacology, University of Calgary, Calgary, Alberta T2N 4N1, Canada.
MacLennan DH; Banting and Best Department of Medical Research, University of Toronto, Toronto, Ontario M5G 1L6, Canada.
Dirksen RT; Department of Pharmacology and Physiology, University of Rochester, Rochester, NY 14642, U.S.A.
Chen SRW; Libin Cardiovascular Institute of Alberta, Department of Physiology and Pharmacology, University of Calgary, Calgary, Alberta T2N 4N1, Canada swchen@ucalgary.ca.

Biochem J ; 474(16): 2749-2761, 2017 08 07.

Article en En | MEDLINE | ID: mdl-28687594

Asunto(s)

Señalización del Calcio; Hipertermia Maligna/genética; Modelos Moleculares; Miopatía del Núcleo Central/genética; Mutación Puntual; Canal Liberador de Calcio Receptor de Rianodina/genética; Antagonistas Adrenérgicos beta/farmacología; Sustitución de Aminoácidos; Animales; Señalización del Calcio/efectos de los fármacos; Carbazoles/farmacología; Carvedilol; Dantroleno/farmacología; Transferencia Resonante de Energía de Fluorescencia; Predisposición Genética a la Enfermedad; Células HEK293; Humanos; Hipertermia Maligna/tratamiento farmacológico; Hipertermia Maligna/metabolismo; Microscopía Fluorescente; Relajantes Musculares Centrales/farmacología; Mutagénesis Sitio-Dirigida; Miopatía del Núcleo Central/metabolismo; Propanolaminas/farmacología; Conformación Proteica; Conejos; Proteínas Recombinantes/química; Proteínas Recombinantes/metabolismo; Canal Liberador de Calcio Receptor de Rianodina/química; Canal Liberador de Calcio Receptor de Rianodina/metabolismo; Análisis de la Célula Individual

Palabras clave

Ca2+ overload; calcium release; disease mutation; malignant hyperthermia; ryanodine receptor; sarcoplasmic reticulum

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Modelos Moleculares / Mutación Puntual / Canal Liberador de Calcio Receptor de Rianodina / Señalización del Calcio / Miopatía del Núcleo Central / Hipertermia Maligna Tipo de estudio: Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Biochem J Año: 2017 Tipo del documento: Article País de afiliación: Canadá

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