PMID- 24888331
OWN - NLM
STAT- MEDLINE
DCOM- 20140821
LR  - 20220129
IS  - 1524-4539 (Electronic)
IS  - 0009-7322 (Linking)
VI  - 129
IP  - 25
DP  - 2014 Jun 24
TI  - Single delivery of an adeno-associated viral construct to transfer the CASQ2 gene 
      to knock-in mice affected by catecholaminergic polymorphic ventricular 
      tachycardia is able to cure the disease from birth to advanced age.
PG  - 2673-81
LID - 10.1161/CIRCULATIONAHA.113.006901 [doi]
AB  - BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia is an inherited 
      arrhythmogenic disorder characterized by sudden cardiac death in children. Drug 
      therapy is still insufficient to provide full protection against cardiac arrest, 
      and the use of implantable defibrillators in the pediatric population is limited 
      by side effects. There is therefore a need to explore the curative potential of 
      gene therapy for this disease. We investigated the efficacy and durability of 
      viral gene transfer of the calsequestrin 2 (CASQ2) wild-type gene in a 
      catecholaminergic polymorphic ventricular tachycardia knock-in mouse model 
      carrying the CASQ2(R33Q/R33Q) (R33Q) mutation. METHODS AND RESULTS: We engineered 
      an adeno-associated viral vector serotype 9 (AAV9) containing cDNA of CASQ2 
      wild-type (AAV9-CASQ2) plus the green fluorescent protein (GFP) gene to infect 
      newborn R33Q mice studied by in vivo and in vitro protocols at 6, 9, and 12 
      months to investigate the ability of the infection to prevent the disease and 
      adult R33Q mice studied after 2 months to assess whether the AAV9-CASQ2 delivery 
      could revert the catecholaminergic polymorphic ventricular tachycardia phenotype. 
      In both protocols, we observed the restoration of physiological expression and 
      interaction of CASQ2, junctin, and triadin; the rescue of electrophysiological 
      and ultrastructural abnormalities in calcium release units present in R33Q mice; 
      and the lack of life-threatening arrhythmias. CONCLUSIONS: Our data demonstrate 
      that viral gene transfer of wild-type CASQ2 into the heart of R33Q mice prevents 
      and reverts severe manifestations of catecholaminergic polymorphic ventricular 
      tachycardia and that this curative effect lasts for 1 year after a single 
      injection of the vector, thus posing the rationale for the design of a clinical 
      trial.
CI  - (c) 2014 American Heart Association, Inc.
FAU - Denegri, Marco
AU  - Denegri M
AD  - From Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy 
      (M.D., R.B., F.L., V.C.D.G., J.E.A.-C., S.P., A.C., F.E., P.B., C.N., S.G.P.); 
      CeSI-Center for Research on Ageing & DNI-Department of Neuroscience and Imaging, 
      University G. d'Annunzio, Chieti, Italy (S.B., L.P., F.P.); Facultad de Ciencias 
      Medicas, Centro de Investigaciones Cardiovasculares, UNLP-CONICET, La Plata, 
      Argentina (V.C.D.G.); Laboratorio de Cardiologia Molecular, Insituto de 
      Fisiologia, Benemerita Universidad Autonoma de Puebla, Puebla, Mexico 
      (J.E.A.-C.); Department of Cardiology, Beijing Anzhen Hospital, Capital Medical 
      University, Beijing, China (N.L.); Division of Cardiology, Department of Medical 
      and Surgical Science, University of "Magna Graecia," Catanzaro, Italy (A.C.); 
      Federico II University of Naples, Cardiology, Naples, Italy (F.E.); INSERM U836, 
      Grenoble Institut des Neurosciences, Equipe Muscle et Pathologies, Grenoble, 
      France (I.M.); Universite Joseph Fourier, Grenoble, France (I.M.); Pathology 
      Division, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy (L.V.); Laboratorio de 
      Ecologia de la Conducta, Instituto de Fisiologia, Benemerita Universidad Autonoma 
      de Puebla, Puebla, Mexico (A.M.); Telethon Institute of Genetics and Medicine, 
      Naples, Italy (A.A.); Medical Genetics, Department of Translational Medicine, 
      "Federico II" University, Naples, Italy (A.A.); and Department of Molecular 
      Medicine, University of Pavia, Pavia, Italy (S.G.P.).
FAU - Bongianino, Rossana
AU  - Bongianino R
AD  - From Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy 
      (M.D., R.B., F.L., V.C.D.G., J.E.A.-C., S.P., A.C., F.E., P.B., C.N., S.G.P.); 
      CeSI-Center for Research on Ageing & DNI-Department of Neuroscience and Imaging, 
      University G. d'Annunzio, Chieti, Italy (S.B., L.P., F.P.); Facultad de Ciencias 
      Medicas, Centro de Investigaciones Cardiovasculares, UNLP-CONICET, La Plata, 
      Argentina (V.C.D.G.); Laboratorio de Cardiologia Molecular, Insituto de 
      Fisiologia, Benemerita Universidad Autonoma de Puebla, Puebla, Mexico 
      (J.E.A.-C.); Department of Cardiology, Beijing Anzhen Hospital, Capital Medical 
      University, Beijing, China (N.L.); Division of Cardiology, Department of Medical 
      and Surgical Science, University of "Magna Graecia," Catanzaro, Italy (A.C.); 
      Federico II University of Naples, Cardiology, Naples, Italy (F.E.); INSERM U836, 
      Grenoble Institut des Neurosciences, Equipe Muscle et Pathologies, Grenoble, 
      France (I.M.); Universite Joseph Fourier, Grenoble, France (I.M.); Pathology 
      Division, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy (L.V.); Laboratorio de 
      Ecologia de la Conducta, Instituto de Fisiologia, Benemerita Universidad Autonoma 
      de Puebla, Puebla, Mexico (A.M.); Telethon Institute of Genetics and Medicine, 
      Naples, Italy (A.A.); Medical Genetics, Department of Translational Medicine, 
      "Federico II" University, Naples, Italy (A.A.); and Department of Molecular 
      Medicine, University of Pavia, Pavia, Italy (S.G.P.).
FAU - Lodola, Francesco
AU  - Lodola F
AD  - From Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy 
      (M.D., R.B., F.L., V.C.D.G., J.E.A.-C., S.P., A.C., F.E., P.B., C.N., S.G.P.); 
      CeSI-Center for Research on Ageing & DNI-Department of Neuroscience and Imaging, 
      University G. d'Annunzio, Chieti, Italy (S.B., L.P., F.P.); Facultad de Ciencias 
      Medicas, Centro de Investigaciones Cardiovasculares, UNLP-CONICET, La Plata, 
      Argentina (V.C.D.G.); Laboratorio de Cardiologia Molecular, Insituto de 
      Fisiologia, Benemerita Universidad Autonoma de Puebla, Puebla, Mexico 
      (J.E.A.-C.); Department of Cardiology, Beijing Anzhen Hospital, Capital Medical 
      University, Beijing, China (N.L.); Division of Cardiology, Department of Medical 
      and Surgical Science, University of "Magna Graecia," Catanzaro, Italy (A.C.); 
      Federico II University of Naples, Cardiology, Naples, Italy (F.E.); INSERM U836, 
      Grenoble Institut des Neurosciences, Equipe Muscle et Pathologies, Grenoble, 
      France (I.M.); Universite Joseph Fourier, Grenoble, France (I.M.); Pathology 
      Division, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy (L.V.); Laboratorio de 
      Ecologia de la Conducta, Instituto de Fisiologia, Benemerita Universidad Autonoma 
      de Puebla, Puebla, Mexico (A.M.); Telethon Institute of Genetics and Medicine, 
      Naples, Italy (A.A.); Medical Genetics, Department of Translational Medicine, 
      "Federico II" University, Naples, Italy (A.A.); and Department of Molecular 
      Medicine, University of Pavia, Pavia, Italy (S.G.P.).
FAU - Boncompagni, Simona
AU  - Boncompagni S
AD  - From Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy 
      (M.D., R.B., F.L., V.C.D.G., J.E.A.-C., S.P., A.C., F.E., P.B., C.N., S.G.P.); 
      CeSI-Center for Research on Ageing & DNI-Department of Neuroscience and Imaging, 
      University G. d'Annunzio, Chieti, Italy (S.B., L.P., F.P.); Facultad de Ciencias 
      Medicas, Centro de Investigaciones Cardiovasculares, UNLP-CONICET, La Plata, 
      Argentina (V.C.D.G.); Laboratorio de Cardiologia Molecular, Insituto de 
      Fisiologia, Benemerita Universidad Autonoma de Puebla, Puebla, Mexico 
      (J.E.A.-C.); Department of Cardiology, Beijing Anzhen Hospital, Capital Medical 
      University, Beijing, China (N.L.); Division of Cardiology, Department of Medical 
      and Surgical Science, University of "Magna Graecia," Catanzaro, Italy (A.C.); 
      Federico II University of Naples, Cardiology, Naples, Italy (F.E.); INSERM U836, 
      Grenoble Institut des Neurosciences, Equipe Muscle et Pathologies, Grenoble, 
      France (I.M.); Universite Joseph Fourier, Grenoble, France (I.M.); Pathology 
      Division, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy (L.V.); Laboratorio de 
      Ecologia de la Conducta, Instituto de Fisiologia, Benemerita Universidad Autonoma 
      de Puebla, Puebla, Mexico (A.M.); Telethon Institute of Genetics and Medicine, 
      Naples, Italy (A.A.); Medical Genetics, Department of Translational Medicine, 
      "Federico II" University, Naples, Italy (A.A.); and Department of Molecular 
      Medicine, University of Pavia, Pavia, Italy (S.G.P.).
FAU - De Giusti, Veronica C
AU  - De Giusti VC
AD  - From Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy 
      (M.D., R.B., F.L., V.C.D.G., J.E.A.-C., S.P., A.C., F.E., P.B., C.N., S.G.P.); 
      CeSI-Center for Research on Ageing & DNI-Department of Neuroscience and Imaging, 
      University G. d'Annunzio, Chieti, Italy (S.B., L.P., F.P.); Facultad de Ciencias 
      Medicas, Centro de Investigaciones Cardiovasculares, UNLP-CONICET, La Plata, 
      Argentina (V.C.D.G.); Laboratorio de Cardiologia Molecular, Insituto de 
      Fisiologia, Benemerita Universidad Autonoma de Puebla, Puebla, Mexico 
      (J.E.A.-C.); Department of Cardiology, Beijing Anzhen Hospital, Capital Medical 
      University, Beijing, China (N.L.); Division of Cardiology, Department of Medical 
      and Surgical Science, University of "Magna Graecia," Catanzaro, Italy (A.C.); 
      Federico II University of Naples, Cardiology, Naples, Italy (F.E.); INSERM U836, 
      Grenoble Institut des Neurosciences, Equipe Muscle et Pathologies, Grenoble, 
      France (I.M.); Universite Joseph Fourier, Grenoble, France (I.M.); Pathology 
      Division, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy (L.V.); Laboratorio de 
      Ecologia de la Conducta, Instituto de Fisiologia, Benemerita Universidad Autonoma 
      de Puebla, Puebla, Mexico (A.M.); Telethon Institute of Genetics and Medicine, 
      Naples, Italy (A.A.); Medical Genetics, Department of Translational Medicine, 
      "Federico II" University, Naples, Italy (A.A.); and Department of Molecular 
      Medicine, University of Pavia, Pavia, Italy (S.G.P.).
FAU - Avelino-Cruz, Jose E
AU  - Avelino-Cruz JE
AD  - From Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy 
      (M.D., R.B., F.L., V.C.D.G., J.E.A.-C., S.P., A.C., F.E., P.B., C.N., S.G.P.); 
      CeSI-Center for Research on Ageing & DNI-Department of Neuroscience and Imaging, 
      University G. d'Annunzio, Chieti, Italy (S.B., L.P., F.P.); Facultad de Ciencias 
      Medicas, Centro de Investigaciones Cardiovasculares, UNLP-CONICET, La Plata, 
      Argentina (V.C.D.G.); Laboratorio de Cardiologia Molecular, Insituto de 
      Fisiologia, Benemerita Universidad Autonoma de Puebla, Puebla, Mexico 
      (J.E.A.-C.); Department of Cardiology, Beijing Anzhen Hospital, Capital Medical 
      University, Beijing, China (N.L.); Division of Cardiology, Department of Medical 
      and Surgical Science, University of "Magna Graecia," Catanzaro, Italy (A.C.); 
      Federico II University of Naples, Cardiology, Naples, Italy (F.E.); INSERM U836, 
      Grenoble Institut des Neurosciences, Equipe Muscle et Pathologies, Grenoble, 
      France (I.M.); Universite Joseph Fourier, Grenoble, France (I.M.); Pathology 
      Division, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy (L.V.); Laboratorio de 
      Ecologia de la Conducta, Instituto de Fisiologia, Benemerita Universidad Autonoma 
      de Puebla, Puebla, Mexico (A.M.); Telethon Institute of Genetics and Medicine, 
      Naples, Italy (A.A.); Medical Genetics, Department of Translational Medicine, 
      "Federico II" University, Naples, Italy (A.A.); and Department of Molecular 
      Medicine, University of Pavia, Pavia, Italy (S.G.P.).
FAU - Liu, Nian
AU  - Liu N
AD  - From Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy 
      (M.D., R.B., F.L., V.C.D.G., J.E.A.-C., S.P., A.C., F.E., P.B., C.N., S.G.P.); 
      CeSI-Center for Research on Ageing & DNI-Department of Neuroscience and Imaging, 
      University G. d'Annunzio, Chieti, Italy (S.B., L.P., F.P.); Facultad de Ciencias 
      Medicas, Centro de Investigaciones Cardiovasculares, UNLP-CONICET, La Plata, 
      Argentina (V.C.D.G.); Laboratorio de Cardiologia Molecular, Insituto de 
      Fisiologia, Benemerita Universidad Autonoma de Puebla, Puebla, Mexico 
      (J.E.A.-C.); Department of Cardiology, Beijing Anzhen Hospital, Capital Medical 
      University, Beijing, China (N.L.); Division of Cardiology, Department of Medical 
      and Surgical Science, University of "Magna Graecia," Catanzaro, Italy (A.C.); 
      Federico II University of Naples, Cardiology, Naples, Italy (F.E.); INSERM U836, 
      Grenoble Institut des Neurosciences, Equipe Muscle et Pathologies, Grenoble, 
      France (I.M.); Universite Joseph Fourier, Grenoble, France (I.M.); Pathology 
      Division, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy (L.V.); Laboratorio de 
      Ecologia de la Conducta, Instituto de Fisiologia, Benemerita Universidad Autonoma 
      de Puebla, Puebla, Mexico (A.M.); Telethon Institute of Genetics and Medicine, 
      Naples, Italy (A.A.); Medical Genetics, Department of Translational Medicine, 
      "Federico II" University, Naples, Italy (A.A.); and Department of Molecular 
      Medicine, University of Pavia, Pavia, Italy (S.G.P.).
FAU - Persampieri, Simone
AU  - Persampieri S
AD  - From Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy 
      (M.D., R.B., F.L., V.C.D.G., J.E.A.-C., S.P., A.C., F.E., P.B., C.N., S.G.P.); 
      CeSI-Center for Research on Ageing & DNI-Department of Neuroscience and Imaging, 
      University G. d'Annunzio, Chieti, Italy (S.B., L.P., F.P.); Facultad de Ciencias 
      Medicas, Centro de Investigaciones Cardiovasculares, UNLP-CONICET, La Plata, 
      Argentina (V.C.D.G.); Laboratorio de Cardiologia Molecular, Insituto de 
      Fisiologia, Benemerita Universidad Autonoma de Puebla, Puebla, Mexico 
      (J.E.A.-C.); Department of Cardiology, Beijing Anzhen Hospital, Capital Medical 
      University, Beijing, China (N.L.); Division of Cardiology, Department of Medical 
      and Surgical Science, University of "Magna Graecia," Catanzaro, Italy (A.C.); 
      Federico II University of Naples, Cardiology, Naples, Italy (F.E.); INSERM U836, 
      Grenoble Institut des Neurosciences, Equipe Muscle et Pathologies, Grenoble, 
      France (I.M.); Universite Joseph Fourier, Grenoble, France (I.M.); Pathology 
      Division, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy (L.V.); Laboratorio de 
      Ecologia de la Conducta, Instituto de Fisiologia, Benemerita Universidad Autonoma 
      de Puebla, Puebla, Mexico (A.M.); Telethon Institute of Genetics and Medicine, 
      Naples, Italy (A.A.); Medical Genetics, Department of Translational Medicine, 
      "Federico II" University, Naples, Italy (A.A.); and Department of Molecular 
      Medicine, University of Pavia, Pavia, Italy (S.G.P.).
FAU - Curcio, Antonio
AU  - Curcio A
AD  - From Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy 
      (M.D., R.B., F.L., V.C.D.G., J.E.A.-C., S.P., A.C., F.E., P.B., C.N., S.G.P.); 
      CeSI-Center for Research on Ageing & DNI-Department of Neuroscience and Imaging, 
      University G. d'Annunzio, Chieti, Italy (S.B., L.P., F.P.); Facultad de Ciencias 
      Medicas, Centro de Investigaciones Cardiovasculares, UNLP-CONICET, La Plata, 
      Argentina (V.C.D.G.); Laboratorio de Cardiologia Molecular, Insituto de 
      Fisiologia, Benemerita Universidad Autonoma de Puebla, Puebla, Mexico 
      (J.E.A.-C.); Department of Cardiology, Beijing Anzhen Hospital, Capital Medical 
      University, Beijing, China (N.L.); Division of Cardiology, Department of Medical 
      and Surgical Science, University of "Magna Graecia," Catanzaro, Italy (A.C.); 
      Federico II University of Naples, Cardiology, Naples, Italy (F.E.); INSERM U836, 
      Grenoble Institut des Neurosciences, Equipe Muscle et Pathologies, Grenoble, 
      France (I.M.); Universite Joseph Fourier, Grenoble, France (I.M.); Pathology 
      Division, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy (L.V.); Laboratorio de 
      Ecologia de la Conducta, Instituto de Fisiologia, Benemerita Universidad Autonoma 
      de Puebla, Puebla, Mexico (A.M.); Telethon Institute of Genetics and Medicine, 
      Naples, Italy (A.A.); Medical Genetics, Department of Translational Medicine, 
      "Federico II" University, Naples, Italy (A.A.); and Department of Molecular 
      Medicine, University of Pavia, Pavia, Italy (S.G.P.).
FAU - Esposito, Francesca
AU  - Esposito F
AD  - From Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy 
      (M.D., R.B., F.L., V.C.D.G., J.E.A.-C., S.P., A.C., F.E., P.B., C.N., S.G.P.); 
      CeSI-Center for Research on Ageing & DNI-Department of Neuroscience and Imaging, 
      University G. d'Annunzio, Chieti, Italy (S.B., L.P., F.P.); Facultad de Ciencias 
      Medicas, Centro de Investigaciones Cardiovasculares, UNLP-CONICET, La Plata, 
      Argentina (V.C.D.G.); Laboratorio de Cardiologia Molecular, Insituto de 
      Fisiologia, Benemerita Universidad Autonoma de Puebla, Puebla, Mexico 
      (J.E.A.-C.); Department of Cardiology, Beijing Anzhen Hospital, Capital Medical 
      University, Beijing, China (N.L.); Division of Cardiology, Department of Medical 
      and Surgical Science, University of "Magna Graecia," Catanzaro, Italy (A.C.); 
      Federico II University of Naples, Cardiology, Naples, Italy (F.E.); INSERM U836, 
      Grenoble Institut des Neurosciences, Equipe Muscle et Pathologies, Grenoble, 
      France (I.M.); Universite Joseph Fourier, Grenoble, France (I.M.); Pathology 
      Division, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy (L.V.); Laboratorio de 
      Ecologia de la Conducta, Instituto de Fisiologia, Benemerita Universidad Autonoma 
      de Puebla, Puebla, Mexico (A.M.); Telethon Institute of Genetics and Medicine, 
      Naples, Italy (A.A.); Medical Genetics, Department of Translational Medicine, 
      "Federico II" University, Naples, Italy (A.A.); and Department of Molecular 
      Medicine, University of Pavia, Pavia, Italy (S.G.P.).
FAU - Pietrangelo, Laura
AU  - Pietrangelo L
AD  - From Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy 
      (M.D., R.B., F.L., V.C.D.G., J.E.A.-C., S.P., A.C., F.E., P.B., C.N., S.G.P.); 
      CeSI-Center for Research on Ageing & DNI-Department of Neuroscience and Imaging, 
      University G. d'Annunzio, Chieti, Italy (S.B., L.P., F.P.); Facultad de Ciencias 
      Medicas, Centro de Investigaciones Cardiovasculares, UNLP-CONICET, La Plata, 
      Argentina (V.C.D.G.); Laboratorio de Cardiologia Molecular, Insituto de 
      Fisiologia, Benemerita Universidad Autonoma de Puebla, Puebla, Mexico 
      (J.E.A.-C.); Department of Cardiology, Beijing Anzhen Hospital, Capital Medical 
      University, Beijing, China (N.L.); Division of Cardiology, Department of Medical 
      and Surgical Science, University of "Magna Graecia," Catanzaro, Italy (A.C.); 
      Federico II University of Naples, Cardiology, Naples, Italy (F.E.); INSERM U836, 
      Grenoble Institut des Neurosciences, Equipe Muscle et Pathologies, Grenoble, 
      France (I.M.); Universite Joseph Fourier, Grenoble, France (I.M.); Pathology 
      Division, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy (L.V.); Laboratorio de 
      Ecologia de la Conducta, Instituto de Fisiologia, Benemerita Universidad Autonoma 
      de Puebla, Puebla, Mexico (A.M.); Telethon Institute of Genetics and Medicine, 
      Naples, Italy (A.A.); Medical Genetics, Department of Translational Medicine, 
      "Federico II" University, Naples, Italy (A.A.); and Department of Molecular 
      Medicine, University of Pavia, Pavia, Italy (S.G.P.).
FAU - Marty, Isabelle
AU  - Marty I
AD  - From Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy 
      (M.D., R.B., F.L., V.C.D.G., J.E.A.-C., S.P., A.C., F.E., P.B., C.N., S.G.P.); 
      CeSI-Center for Research on Ageing & DNI-Department of Neuroscience and Imaging, 
      University G. d'Annunzio, Chieti, Italy (S.B., L.P., F.P.); Facultad de Ciencias 
      Medicas, Centro de Investigaciones Cardiovasculares, UNLP-CONICET, La Plata, 
      Argentina (V.C.D.G.); Laboratorio de Cardiologia Molecular, Insituto de 
      Fisiologia, Benemerita Universidad Autonoma de Puebla, Puebla, Mexico 
      (J.E.A.-C.); Department of Cardiology, Beijing Anzhen Hospital, Capital Medical 
      University, Beijing, China (N.L.); Division of Cardiology, Department of Medical 
      and Surgical Science, University of "Magna Graecia," Catanzaro, Italy (A.C.); 
      Federico II University of Naples, Cardiology, Naples, Italy (F.E.); INSERM U836, 
      Grenoble Institut des Neurosciences, Equipe Muscle et Pathologies, Grenoble, 
      France (I.M.); Universite Joseph Fourier, Grenoble, France (I.M.); Pathology 
      Division, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy (L.V.); Laboratorio de 
      Ecologia de la Conducta, Instituto de Fisiologia, Benemerita Universidad Autonoma 
      de Puebla, Puebla, Mexico (A.M.); Telethon Institute of Genetics and Medicine, 
      Naples, Italy (A.A.); Medical Genetics, Department of Translational Medicine, 
      "Federico II" University, Naples, Italy (A.A.); and Department of Molecular 
      Medicine, University of Pavia, Pavia, Italy (S.G.P.).
FAU - Villani, Laura
AU  - Villani L
AD  - From Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy 
      (M.D., R.B., F.L., V.C.D.G., J.E.A.-C., S.P., A.C., F.E., P.B., C.N., S.G.P.); 
      CeSI-Center for Research on Ageing & DNI-Department of Neuroscience and Imaging, 
      University G. d'Annunzio, Chieti, Italy (S.B., L.P., F.P.); Facultad de Ciencias 
      Medicas, Centro de Investigaciones Cardiovasculares, UNLP-CONICET, La Plata, 
      Argentina (V.C.D.G.); Laboratorio de Cardiologia Molecular, Insituto de 
      Fisiologia, Benemerita Universidad Autonoma de Puebla, Puebla, Mexico 
      (J.E.A.-C.); Department of Cardiology, Beijing Anzhen Hospital, Capital Medical 
      University, Beijing, China (N.L.); Division of Cardiology, Department of Medical 
      and Surgical Science, University of "Magna Graecia," Catanzaro, Italy (A.C.); 
      Federico II University of Naples, Cardiology, Naples, Italy (F.E.); INSERM U836, 
      Grenoble Institut des Neurosciences, Equipe Muscle et Pathologies, Grenoble, 
      France (I.M.); Universite Joseph Fourier, Grenoble, France (I.M.); Pathology 
      Division, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy (L.V.); Laboratorio de 
      Ecologia de la Conducta, Instituto de Fisiologia, Benemerita Universidad Autonoma 
      de Puebla, Puebla, Mexico (A.M.); Telethon Institute of Genetics and Medicine, 
      Naples, Italy (A.A.); Medical Genetics, Department of Translational Medicine, 
      "Federico II" University, Naples, Italy (A.A.); and Department of Molecular 
      Medicine, University of Pavia, Pavia, Italy (S.G.P.).
FAU - Moyaho, Alejandro
AU  - Moyaho A
AD  - From Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy 
      (M.D., R.B., F.L., V.C.D.G., J.E.A.-C., S.P., A.C., F.E., P.B., C.N., S.G.P.); 
      CeSI-Center for Research on Ageing & DNI-Department of Neuroscience and Imaging, 
      University G. d'Annunzio, Chieti, Italy (S.B., L.P., F.P.); Facultad de Ciencias 
      Medicas, Centro de Investigaciones Cardiovasculares, UNLP-CONICET, La Plata, 
      Argentina (V.C.D.G.); Laboratorio de Cardiologia Molecular, Insituto de 
      Fisiologia, Benemerita Universidad Autonoma de Puebla, Puebla, Mexico 
      (J.E.A.-C.); Department of Cardiology, Beijing Anzhen Hospital, Capital Medical 
      University, Beijing, China (N.L.); Division of Cardiology, Department of Medical 
      and Surgical Science, University of "Magna Graecia," Catanzaro, Italy (A.C.); 
      Federico II University of Naples, Cardiology, Naples, Italy (F.E.); INSERM U836, 
      Grenoble Institut des Neurosciences, Equipe Muscle et Pathologies, Grenoble, 
      France (I.M.); Universite Joseph Fourier, Grenoble, France (I.M.); Pathology 
      Division, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy (L.V.); Laboratorio de 
      Ecologia de la Conducta, Instituto de Fisiologia, Benemerita Universidad Autonoma 
      de Puebla, Puebla, Mexico (A.M.); Telethon Institute of Genetics and Medicine, 
      Naples, Italy (A.A.); Medical Genetics, Department of Translational Medicine, 
      "Federico II" University, Naples, Italy (A.A.); and Department of Molecular 
      Medicine, University of Pavia, Pavia, Italy (S.G.P.).
FAU - Baiardi, Paola
AU  - Baiardi P
AD  - From Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy 
      (M.D., R.B., F.L., V.C.D.G., J.E.A.-C., S.P., A.C., F.E., P.B., C.N., S.G.P.); 
      CeSI-Center for Research on Ageing & DNI-Department of Neuroscience and Imaging, 
      University G. d'Annunzio, Chieti, Italy (S.B., L.P., F.P.); Facultad de Ciencias 
      Medicas, Centro de Investigaciones Cardiovasculares, UNLP-CONICET, La Plata, 
      Argentina (V.C.D.G.); Laboratorio de Cardiologia Molecular, Insituto de 
      Fisiologia, Benemerita Universidad Autonoma de Puebla, Puebla, Mexico 
      (J.E.A.-C.); Department of Cardiology, Beijing Anzhen Hospital, Capital Medical 
      University, Beijing, China (N.L.); Division of Cardiology, Department of Medical 
      and Surgical Science, University of "Magna Graecia," Catanzaro, Italy (A.C.); 
      Federico II University of Naples, Cardiology, Naples, Italy (F.E.); INSERM U836, 
      Grenoble Institut des Neurosciences, Equipe Muscle et Pathologies, Grenoble, 
      France (I.M.); Universite Joseph Fourier, Grenoble, France (I.M.); Pathology 
      Division, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy (L.V.); Laboratorio de 
      Ecologia de la Conducta, Instituto de Fisiologia, Benemerita Universidad Autonoma 
      de Puebla, Puebla, Mexico (A.M.); Telethon Institute of Genetics and Medicine, 
      Naples, Italy (A.A.); Medical Genetics, Department of Translational Medicine, 
      "Federico II" University, Naples, Italy (A.A.); and Department of Molecular 
      Medicine, University of Pavia, Pavia, Italy (S.G.P.).
FAU - Auricchio, Alberto
AU  - Auricchio A
AD  - From Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy 
      (M.D., R.B., F.L., V.C.D.G., J.E.A.-C., S.P., A.C., F.E., P.B., C.N., S.G.P.); 
      CeSI-Center for Research on Ageing & DNI-Department of Neuroscience and Imaging, 
      University G. d'Annunzio, Chieti, Italy (S.B., L.P., F.P.); Facultad de Ciencias 
      Medicas, Centro de Investigaciones Cardiovasculares, UNLP-CONICET, La Plata, 
      Argentina (V.C.D.G.); Laboratorio de Cardiologia Molecular, Insituto de 
      Fisiologia, Benemerita Universidad Autonoma de Puebla, Puebla, Mexico 
      (J.E.A.-C.); Department of Cardiology, Beijing Anzhen Hospital, Capital Medical 
      University, Beijing, China (N.L.); Division of Cardiology, Department of Medical 
      and Surgical Science, University of "Magna Graecia," Catanzaro, Italy (A.C.); 
      Federico II University of Naples, Cardiology, Naples, Italy (F.E.); INSERM U836, 
      Grenoble Institut des Neurosciences, Equipe Muscle et Pathologies, Grenoble, 
      France (I.M.); Universite Joseph Fourier, Grenoble, France (I.M.); Pathology 
      Division, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy (L.V.); Laboratorio de 
      Ecologia de la Conducta, Instituto de Fisiologia, Benemerita Universidad Autonoma 
      de Puebla, Puebla, Mexico (A.M.); Telethon Institute of Genetics and Medicine, 
      Naples, Italy (A.A.); Medical Genetics, Department of Translational Medicine, 
      "Federico II" University, Naples, Italy (A.A.); and Department of Molecular 
      Medicine, University of Pavia, Pavia, Italy (S.G.P.).
FAU - Protasi, Feliciano
AU  - Protasi F
AD  - From Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy 
      (M.D., R.B., F.L., V.C.D.G., J.E.A.-C., S.P., A.C., F.E., P.B., C.N., S.G.P.); 
      CeSI-Center for Research on Ageing & DNI-Department of Neuroscience and Imaging, 
      University G. d'Annunzio, Chieti, Italy (S.B., L.P., F.P.); Facultad de Ciencias 
      Medicas, Centro de Investigaciones Cardiovasculares, UNLP-CONICET, La Plata, 
      Argentina (V.C.D.G.); Laboratorio de Cardiologia Molecular, Insituto de 
      Fisiologia, Benemerita Universidad Autonoma de Puebla, Puebla, Mexico 
      (J.E.A.-C.); Department of Cardiology, Beijing Anzhen Hospital, Capital Medical 
      University, Beijing, China (N.L.); Division of Cardiology, Department of Medical 
      and Surgical Science, University of "Magna Graecia," Catanzaro, Italy (A.C.); 
      Federico II University of Naples, Cardiology, Naples, Italy (F.E.); INSERM U836, 
      Grenoble Institut des Neurosciences, Equipe Muscle et Pathologies, Grenoble, 
      France (I.M.); Universite Joseph Fourier, Grenoble, France (I.M.); Pathology 
      Division, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy (L.V.); Laboratorio de 
      Ecologia de la Conducta, Instituto de Fisiologia, Benemerita Universidad Autonoma 
      de Puebla, Puebla, Mexico (A.M.); Telethon Institute of Genetics and Medicine, 
      Naples, Italy (A.A.); Medical Genetics, Department of Translational Medicine, 
      "Federico II" University, Naples, Italy (A.A.); and Department of Molecular 
      Medicine, University of Pavia, Pavia, Italy (S.G.P.).
FAU - Napolitano, Carlo
AU  - Napolitano C
AD  - From Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy 
      (M.D., R.B., F.L., V.C.D.G., J.E.A.-C., S.P., A.C., F.E., P.B., C.N., S.G.P.); 
      CeSI-Center for Research on Ageing & DNI-Department of Neuroscience and Imaging, 
      University G. d'Annunzio, Chieti, Italy (S.B., L.P., F.P.); Facultad de Ciencias 
      Medicas, Centro de Investigaciones Cardiovasculares, UNLP-CONICET, La Plata, 
      Argentina (V.C.D.G.); Laboratorio de Cardiologia Molecular, Insituto de 
      Fisiologia, Benemerita Universidad Autonoma de Puebla, Puebla, Mexico 
      (J.E.A.-C.); Department of Cardiology, Beijing Anzhen Hospital, Capital Medical 
      University, Beijing, China (N.L.); Division of Cardiology, Department of Medical 
      and Surgical Science, University of "Magna Graecia," Catanzaro, Italy (A.C.); 
      Federico II University of Naples, Cardiology, Naples, Italy (F.E.); INSERM U836, 
      Grenoble Institut des Neurosciences, Equipe Muscle et Pathologies, Grenoble, 
      France (I.M.); Universite Joseph Fourier, Grenoble, France (I.M.); Pathology 
      Division, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy (L.V.); Laboratorio de 
      Ecologia de la Conducta, Instituto de Fisiologia, Benemerita Universidad Autonoma 
      de Puebla, Puebla, Mexico (A.M.); Telethon Institute of Genetics and Medicine, 
      Naples, Italy (A.A.); Medical Genetics, Department of Translational Medicine, 
      "Federico II" University, Naples, Italy (A.A.); and Department of Molecular 
      Medicine, University of Pavia, Pavia, Italy (S.G.P.).
FAU - Priori, Silvia G
AU  - Priori SG
AD  - From Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy 
      (M.D., R.B., F.L., V.C.D.G., J.E.A.-C., S.P., A.C., F.E., P.B., C.N., S.G.P.); 
      CeSI-Center for Research on Ageing & DNI-Department of Neuroscience and Imaging, 
      University G. d'Annunzio, Chieti, Italy (S.B., L.P., F.P.); Facultad de Ciencias 
      Medicas, Centro de Investigaciones Cardiovasculares, UNLP-CONICET, La Plata, 
      Argentina (V.C.D.G.); Laboratorio de Cardiologia Molecular, Insituto de 
      Fisiologia, Benemerita Universidad Autonoma de Puebla, Puebla, Mexico 
      (J.E.A.-C.); Department of Cardiology, Beijing Anzhen Hospital, Capital Medical 
      University, Beijing, China (N.L.); Division of Cardiology, Department of Medical 
      and Surgical Science, University of "Magna Graecia," Catanzaro, Italy (A.C.); 
      Federico II University of Naples, Cardiology, Naples, Italy (F.E.); INSERM U836, 
      Grenoble Institut des Neurosciences, Equipe Muscle et Pathologies, Grenoble, 
      France (I.M.); Universite Joseph Fourier, Grenoble, France (I.M.); Pathology 
      Division, IRCCS Fondazione Salvatore Maugeri, Pavia, Italy (L.V.); Laboratorio de 
      Ecologia de la Conducta, Instituto de Fisiologia, Benemerita Universidad Autonoma 
      de Puebla, Puebla, Mexico (A.M.); Telethon Institute of Genetics and Medicine, 
      Naples, Italy (A.A.); Medical Genetics, Department of Translational Medicine, 
      "Federico II" University, Naples, Italy (A.A.); and Department of Molecular 
      Medicine, University of Pavia, Pavia, Italy (S.G.P.). silvia.priori@fsm.it.
LA  - eng
GR  - GGP08153/TI_/Telethon/Italy
GR  - GGP11141/TI_/Telethon/Italy
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20140602
PL  - United States
TA  - Circulation
JT  - Circulation
JID - 0147763
RN  - 0 (Calcium-Binding Proteins)
RN  - 0 (Calsequestrin)
RN  - 0 (Carrier Proteins)
RN  - 0 (Membrane Proteins)
RN  - 0 (Muscle Proteins)
RN  - 0 (casq2 protein, mouse)
RN  - 0 (triadin)
RN  - EC 1.- (Asph protein, mouse)
RN  - EC 1.- (Mixed Function Oxygenases)
RN  - Polymorphic catecholergic ventricular tachycardia
SB  - IM
CIN - Circulation. 2014 Jun 24;129(25):2633-5. PMID: 24958749
MH  - *Aging
MH  - Animals
MH  - Calcium-Binding Proteins/metabolism
MH  - Calsequestrin/*genetics/metabolism
MH  - Carrier Proteins/metabolism
MH  - Dependovirus/*genetics
MH  - Disease Models, Animal
MH  - Female
MH  - Genetic Therapy
MH  - Male
MH  - Membrane Proteins/metabolism
MH  - Mice
MH  - Mice, Knockout
MH  - Mixed Function Oxygenases/metabolism
MH  - Muscle Proteins/metabolism
MH  - Mutation/genetics
MH  - Tachycardia, Ventricular/metabolism/pathology/*therapy
MH  - Treatment Outcome
OTO - NOTNLM
OT  - arrhythmias, cardiac
OT  - calsequestrin
OT  - death, sudden
OT  - genetic therapy
OT  - recovery of function
EDAT- 2014/06/04 06:00
MHDA- 2014/08/22 06:00
CRDT- 2014/06/04 06:00
PHST- 2014/06/04 06:00 [entrez]
PHST- 2014/06/04 06:00 [pubmed]
PHST- 2014/08/22 06:00 [medline]
AID - CIRCULATIONAHA.113.006901 [pii]
AID - 10.1161/CIRCULATIONAHA.113.006901 [doi]
PST - ppublish
SO  - Circulation. 2014 Jun 24;129(25):2673-81. doi: 10.1161/CIRCULATIONAHA.113.006901. 
      Epub 2014 Jun 2.