The arrhythmogenic N53I variant subtly changes the structure and dynamics in the calmodulin N-terminal domain, altering its interaction with the cardiac ryanodine receptor.

Holt, Christian; Hamborg, Louise; Lau, Kelvin; Brohus, Malene; Sørensen, Anders Bundgaard; Larsen, Kamilla Taunsig; Sommer, Cordula; Van Petegem, Filip; Overgaard, Michael Toft; Wimmer, Reinhard

Holt, Christian; Hamborg, Louise; Lau, Kelvin; Brohus, Malene; Sørensen, Anders Bundgaard; Larsen, Kamilla Taunsig; Sommer, Cordula; Van Petegem, Filip; Overgaard, Michael Toft; Wimmer, Reinhard.

Afiliación

Holt C; Aalborg University, Department of Chemistry and Bioscience, 9220 Aalborg, Denmark.
Hamborg L; Aalborg University, Department of Chemistry and Bioscience, 9220 Aalborg, Denmark.
Lau K; University of British Columbia, Department of Biochemistry and Molecular Biology, V6T 1Z3 Vancouver, British Columbia, Canada.
Brohus M; Aalborg University, Department of Chemistry and Bioscience, 9220 Aalborg, Denmark.
Sørensen AB; Aalborg University, Department of Chemistry and Bioscience, 9220 Aalborg, Denmark.
Larsen KT; Aalborg University, Department of Chemistry and Bioscience, 9220 Aalborg, Denmark.
Sommer C; Aalborg University, Department of Chemistry and Bioscience, 9220 Aalborg, Denmark.
Van Petegem F; University of British Columbia, Department of Biochemistry and Molecular Biology, V6T 1Z3 Vancouver, British Columbia, Canada petegem@mail.ubc.ca.
Overgaard MT; Aalborg University, Department of Chemistry and Bioscience, 9220 Aalborg, Denmark mto@bio.aau.dk.
Wimmer R; Aalborg University, Department of Chemistry and Bioscience, 9220 Aalborg, Denmark rw@bio.aau.dk.

J Biol Chem ; 295(22): 7620-7634, 2020 05 29.

Article en En | MEDLINE | ID: mdl-32317284

Asunto(s)

Arritmias Cardíacas; Calcio/química; Calmodulina/química; Calmodulina/genética; Mutación Missense; Canal Liberador de Calcio Receptor de Rianodina/química; Sustitución de Aminoácidos; Calcio/metabolismo; Calmodulina/metabolismo; Humanos; Resonancia Magnética Nuclear Biomolecular; Dominios Proteicos; Canal Liberador de Calcio Receptor de Rianodina/genética; Canal Liberador de Calcio Receptor de Rianodina/metabolismo

Palabras clave

CPVT; CaM-N53I; NMR; X-ray crystallography; calcium-binding protein; calmodulin (CaM); cardiac arrhythmia; protein structure; protein-protein interaction; ryanodine receptor; structure-function

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Arritmias Cardíacas / Calmodulina / Calcio / Canal Liberador de Calcio Receptor de Rianodina / Mutación Missense Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: J Biol Chem Año: 2020 Tipo del documento: Article País de afiliación: Dinamarca Pais de publicación: Estados Unidos

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