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Volumn 452, Issue 3, 2014, Pages 665-668

A knock-in mouse model of N-terminal R420W mutation of cardiac ryanodine receptor exhibits arrhythmogenesis with abnormal calcium dynamics in cardiomyocytes

Author keywords

Arrhythmia; Calcium; Model mouse; Sudden death

Indexed keywords

ADRENALIN; CAFFEINE; CARDIOTONIC AGENT; RYANODINE RECEPTOR 2; CALCIUM; RYANODINE RECEPTOR; RYANODINE RECEPTOR 2. MOUSE;

EID: 84907545979     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2014.08.132     Document Type: Article
Times cited : (18)

References (25)
  • 1
    • 77957373124 scopus 로고    scopus 로고
    • The ryanodine receptor in cardiac physiology and disease
    • A. Kushnir, and A.R. Marks The ryanodine receptor in cardiac physiology and disease Adv. Pharmacol. 59 2010 1 30
    • (2010) Adv. Pharmacol. , vol.59 , pp. 1-30
    • Kushnir, A.1    Marks, A.R.2
  • 2
    • 84866395344 scopus 로고    scopus 로고
    • Ryanodine receptors: Structure and function
    • F. Van Petegem Ryanodine receptors: structure and function J. Biol. Chem. 287 2012 31624 31632
    • (2012) J. Biol. Chem. , vol.287 , pp. 31624-31632
    • Van Petegem, F.1
  • 3
    • 0035895322 scopus 로고    scopus 로고
    • Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia
    • S.G. Priori, C. Napolitano, N. Tiso, M. Memmi, G. Vignati, R. Bloise, V. Sorrentino, and G.A. Danieli Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia Circulation 103 2001 196 200
    • (2001) Circulation , vol.103 , pp. 196-200
    • Priori, S.G.1    Napolitano, C.2    Tiso, N.3    Memmi, M.4    Vignati, G.5    Bloise, R.6    Sorrentino, V.7    Danieli, G.A.8
  • 5
    • 0037125396 scopus 로고    scopus 로고
    • Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: Early diagnosis of asymptomatic carriers
    • B. Bauce, A. Rampazzo, C. Basso, A. Bagattin, L. Daliento, N. Tiso, P. Turrini, G. Thiene, G.A. Danieli, and A. Nava Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers J. Am. Coll. Cardiol. 40 2002 341 349
    • (2002) J. Am. Coll. Cardiol. , vol.40 , pp. 341-349
    • Bauce, B.1    Rampazzo, A.2    Basso, C.3    Bagattin, A.4    Daliento, L.5    Tiso, N.6    Turrini, P.7    Thiene, G.8    Danieli, G.A.9    Nava, A.10
  • 8
    • 0023848617 scopus 로고
    • Right ventricular cardiomyopathy and sudden death in young people
    • G. Thiene, A. Nava, D. Corrado, L. Rossi, and N. Pennelli Right ventricular cardiomyopathy and sudden death in young people N. Engl. J. Med. 318 1988 129 133
    • (1988) N. Engl. J. Med. , vol.318 , pp. 129-133
    • Thiene, G.1    Nava, A.2    Corrado, D.3    Rossi, L.4    Pennelli, N.5
  • 9
    • 7544230111 scopus 로고    scopus 로고
    • Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: A molecular autopsy of 49 medical examiner/coroner's cases
    • D.J. Tester, D.B. Spoon, H.H. Valdivia, J.C. Makielski, and M.J. Ackerman Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases Mayo Clin. Proc. 79 2004 1380 1384
    • (2004) Mayo Clin. Proc. , vol.79 , pp. 1380-1384
    • Tester, D.J.1    Spoon, D.B.2    Valdivia, H.H.3    Makielski, J.C.4    Ackerman, M.J.5
  • 12
    • 84885184137 scopus 로고    scopus 로고
    • Type 2 ryanodine receptor domain A contains a unique and dynamic α-helix that transitions to a β-strand in a mutant linked with a heritable cardiomyopathy
    • F.J. Amador, L. Kimlicka, P.B. Stathopulos, G.M. Gasmi-Seabrook, D.H. Maclennan, F. Van Petegem, and M. Ikura Type 2 ryanodine receptor domain A contains a unique and dynamic α-helix that transitions to a β-strand in a mutant linked with a heritable cardiomyopathy J. Mol. Biol. 425 2013 4034 4046
    • (2013) J. Mol. Biol. , vol.425 , pp. 4034-4046
    • Amador, F.J.1    Kimlicka, L.2    Stathopulos, P.B.3    Gasmi-Seabrook, G.M.4    Maclennan, D.H.5    Van Petegem, F.6    Ikura, M.7
  • 13
    • 33750571687 scopus 로고    scopus 로고
    • Postmortem molecular screening for cardiac ryanodine receptor type 2 mutations in sudden unexplained death: R420W mutated case with characteristics of status thymico-lymphaticus
    • H. Nishio, M. Iwata, and K. Suzuki Postmortem molecular screening for cardiac ryanodine receptor type 2 mutations in sudden unexplained death: R420W mutated case with characteristics of status thymico-lymphaticus Circ. J. 70 2006 1402 1406
    • (2006) Circ. J. , vol.70 , pp. 1402-1406
    • Nishio, H.1    Iwata, M.2    Suzuki, K.3
  • 14
    • 43049157526 scopus 로고    scopus 로고
    • Identification of a novel mutation V2321M of the cardiac ryanodine receptor gene of sudden unexplained death and a phenotypic study of the gene mutation
    • H. Nishio, M. Iwata, A. Tamura, T. Miyazaki, K. Tsuboi, and K. Suzuki Identification of a novel mutation V2321M of the cardiac ryanodine receptor gene of sudden unexplained death and a phenotypic study of the gene mutation Leg. Med. 10 2008 196 200
    • (2008) Leg. Med. , vol.10 , pp. 196-200
    • Nishio, H.1    Iwata, M.2    Tamura, A.3    Miyazaki, T.4    Tsuboi, K.5    Suzuki, K.6
  • 15
    • 84862832753 scopus 로고    scopus 로고
    • Abnormal termination of Ca2+ release is a common defect of RyR2 mutations associated with cardiomyopathies
    • Y. Tang, X. Tian, R. Wang, M. Fill, and S.R. Chen Abnormal termination of Ca2+ release is a common defect of RyR2 mutations associated with cardiomyopathies Circ. Res. 110 2012 968 977
    • (2012) Circ. Res. , vol.110 , pp. 968-977
    • Tang, Y.1    Tian, X.2    Wang, R.3    Fill, M.4    Chen, S.R.5
  • 16
    • 84881475550 scopus 로고    scopus 로고
    • The cardiac ryanodine receptor N-terminal region contains an anion binding site that is targeted by disease mutations
    • L. Kimlicka, C.C. Tung, A.C. Carlsson, P.A. Lobo, Z. Yuchi, and F. Van Petegem The cardiac ryanodine receptor N-terminal region contains an anion binding site that is targeted by disease mutations Structure 21 2013 1440 1449
    • (2013) Structure , vol.21 , pp. 1440-1449
    • Kimlicka, L.1    Tung, C.C.2    Carlsson, A.C.3    Lobo, P.A.4    Yuchi, Z.5    Van Petegem, F.6
  • 17
    • 84908031370 scopus 로고    scopus 로고
    • Hypertrophy of lymphoid organs is a possible phenotypic characteristic of R420W mutation of the cardiac ryanodine receptor gene: A study using a knock-in mouse model
    • H. Nishio, N. Okudaira, K. Matsushita, T. Yoshimoto, T. Sato, K. Suzuki, Hypertrophy of lymphoid organs is a possible phenotypic characteristic of R420W mutation of the cardiac ryanodine receptor gene: a study using a knock-in mouse model, Leg. Med. http://dx.doi.org/10.1016/j.legalmed.2014.06.008.
    • Leg. Med.
    • Nishio, H.1    Okudaira, N.2    Matsushita, K.3    Yoshimoto, T.4    Sato, T.5    Suzuki, K.6
  • 19
  • 20
    • 84880900195 scopus 로고    scopus 로고
    • The CPVT-associated RyR2 mutation G230C enhances store overload-induced Ca2+ release and destabilizes the N-terminal domains
    • Y. Liu, L. Kimlicka, F. Hiess, X. Tian, R. Wang, L. Zhang, P.P. Jones, F. Van Petegem, and S.R. Chen The CPVT-associated RyR2 mutation G230C enhances store overload-induced Ca2+ release and destabilizes the N-terminal domains Biochem. J. 454 2013 123 131
    • (2013) Biochem. J. , vol.454 , pp. 123-131
    • Liu, Y.1    Kimlicka, L.2    Hiess, F.3    Tian, X.4    Wang, R.5    Zhang, L.6    Jones, P.P.7    Van Petegem, F.8    Chen, S.R.9
  • 25
    • 20344400985 scopus 로고    scopus 로고
    • Bidirectional ventricular tachycardia and fibrillation elicited in a knock-in mouse model carrier of a mutation in the cardiac ryanodine receptor
    • M. Cerrone, B. Colombi, M. Santoro, M.R. di Barletta, M. Scelsi, L. Villani, C. Napolitano, and S.G. Priori Bidirectional ventricular tachycardia and fibrillation elicited in a knock-in mouse model carrier of a mutation in the cardiac ryanodine receptor Circ. Res. 96 2005 e77 e82
    • (2005) Circ. Res. , vol.96 , pp. 77-e82
    • Cerrone, M.1    Colombi, B.2    Santoro, M.3    Di Barletta, M.R.4    Scelsi, M.5    Villani, L.6    Napolitano, C.7    Priori, S.G.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.