Unexpected Structural and Functional Consequences of the R33Q Homozygous Mutation in Cardiac Calsequestrin: A Complex Arrhythmogenic Cascade in a Knock in Mouse Model

Circulation Research

Volumn 103, Issue 3, 2008, Pages 298-306

  Rizzi, Nicoletta ^a   Liu, Nian ^a   Napolitano, Carlo ^a   Nori, Alessandra ^c   Turcato, Federica ^c   Colombi, Barbara ^a   Bicciato, Silvio ^d   Arcelli, Diego ^e   Spedito, Alessandro ^b   Scelsi, Mario ^a   Villani, Laura ^a   Esposito, Giovanni ^f   Boncompagni, Simona ^g   Protasi, Feliciano ^g   Volpe, Pompeo ^c   Priori, Silvia G ^a,b  

^a IRCCS   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

^d UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^e LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^f UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^g UNIVERSITY OF CHIETI   (Italy)

Author keywords

Calsequestrin; Genetics; Sudden death; Transgenic mice; Triggered activity

Indexed keywords

CALCIUM BINDING PROTEIN; CALRETICULIN; CALSEQUESTRIN; JUNCTIN; MESSENGER RNA; PHOSPHOLAMBAN; RYANODINE RECEPTOR 2; SARCOPLASMIC RETICULUM CALCIUM TRANSPORTING ADENOSINE TRIPHOSPHATASE; TRIADIN; TRYPSIN; UNCLASSIFIED DRUG; CALCIUM; CASQ2 PROTEIN, MOUSE;

ADRENERGIC ACTIVITY; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CALCIUM TRANSPORT; CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; CONTROLLED STUDY; DIGESTION; ELECTRON; ENVIRONMENTAL EXPOSURE; ENVIRONMENTAL STRESS; FEMALE; GENE MUTATION; HEART DEPOLARIZATION; HEART MUSCLE CELL; HEART VENTRICLE TACHYCARDIA; HISTOLOGY; MALE; MOUSE; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEGRADATION; SARCOPLASMIC RETICULUM; ULTRASTRUCTURE; ANIMAL; CHEMISTRY; DISEASE MODEL; ELECTROPHYSIOLOGY; GENETICS; HEART ARRHYTHMIA; HOMOZYGOTE; MISSENSE MUTATION; PHYSIOLOGY; TRANSGENIC MOUSE;

ANIMALS; ARRHYTHMIAS, CARDIAC; CALCIUM; CALSEQUESTRIN; DISEASE MODELS, ANIMAL; ELECTROPHYSIOLOGY; HOMOZYGOTE; MICE; MICE, TRANSGENIC; MUTATION, MISSENSE; PHENOTYPE; SARCOPLASMIC RETICULUM;

EID: 53549118870     PISSN: 00097330     EISSN: 15244571     Source Type: Journal    
DOI: 10.1161/CIRCRESAHA.108.171660     Document Type: Article

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