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Items: 1 to 20 of 157

1.

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.

Roux-Buisson N, Cacheux M, Fourest-Lieuvin A, Fauconnier J, Brocard J, Denjoy I, Durand P, Guicheney P, Kyndt F, Leenhardt A, Le Marec H, Lucet V, Mabo P, Probst V, Monnier N, Ray PF, Santoni E, Trémeaux P, Lacampagne A, Fauré J, Lunardi J, Marty I.

Hum Mol Genet. 2012 Jun 15;21(12):2759-67. doi: 10.1093/hmg/dds104. Epub 2012 Mar 14.

2.

Viral gene transfer rescues arrhythmogenic phenotype and ultrastructural abnormalities in adult calsequestrin-null mice with inherited arrhythmias.

Denegri M, Avelino-Cruz JE, Boncompagni S, De Simone SA, Auricchio A, Villani L, Volpe P, Protasi F, Napolitano C, Priori SG.

Circ Res. 2012 Mar 2;110(5):663-8. doi: 10.1161/CIRCRESAHA.111.263939. Epub 2012 Jan 31.

3.

Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia.

Song L, Alcalai R, Arad M, Wolf CM, Toka O, Conner DA, Berul CI, Eldar M, Seidman CE, Seidman JG.

J Clin Invest. 2007 Jul;117(7):1814-23.

4.

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.

Denegri M, Bongianino R, Lodola F, Boncompagni S, De Giusti VC, Avelino-Cruz JE, Liu N, Persampieri S, Curcio A, Esposito F, Pietrangelo L, Marty I, Villani L, Moyaho A, Baiardi P, Auricchio A, Protasi F, Napolitano C, Priori SG.

Circulation. 2014 Jun 24;129(25):2673-81. doi: 10.1161/CIRCULATIONAHA.113.006901. Epub 2014 Jun 2.

5.

The human CASQ2 mutation K206N is associated with hyperglycosylation and altered cellular calcium handling.

Kirchhefer U, Wehrmeister D, Postma AV, Pohlentz G, Mormann M, Kucerova D, Müller FU, Schmitz W, Schulze-Bahr E, Wilde AA, Neumann J.

J Mol Cell Cardiol. 2010 Jul;49(1):95-105. doi: 10.1016/j.yjmcc.2010.03.006. Epub 2010 Mar 17.

PMID:
20302875
6.

New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene.

Rooryck C, Kyndt F, Bozon D, Roux-Buisson N, Sacher F, Probst V, Thambo JB.

J Cardiovasc Electrophysiol. 2015 Oct;26(10):1146-50. doi: 10.1111/jce.12763. Epub 2015 Sep 1.

PMID:
26200674
7.

Characterization of a novel mutation in the cardiac ryanodine receptor that results in catecholaminergic polymorphic ventricular tachycardia.

Jiang D, Jones PP, Davis DR, Gow R, Green MS, Birnie DH, Chen SR, Gollob MH.

Channels (Austin). 2010 Jul-Aug;4(4):302-10. Epub 2010 Jul 14.

8.

Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death.

Nyegaard M, Overgaard MT, Søndergaard MT, Vranas M, Behr ER, Hildebrandt LL, Lund J, Hedley PL, Camm AJ, Wettrell G, Fosdal I, Christiansen M, Børglum AD.

Am J Hum Genet. 2012 Oct 5;91(4):703-12. doi: 10.1016/j.ajhg.2012.08.015.

9.

Catecholaminergic polymorphic ventricular tachycardia: recent mechanistic insights.

Kontula K, Laitinen PJ, Lehtonen A, Toivonen L, Viitasalo M, Swan H.

Cardiovasc Res. 2005 Aug 15;67(3):379-87. Review.

PMID:
15913575
10.

Abnormal interactions of calsequestrin with the ryanodine receptor calcium release channel complex linked to exercise-induced sudden cardiac death.

Terentyev D, Nori A, Santoro M, Viatchenko-Karpinski S, Kubalova Z, Gyorke I, Terentyeva R, Vedamoorthyrao S, Blom NA, Valle G, Napolitano C, Williams SC, Volpe P, Priori SG, Gyorke S.

Circ Res. 2006 May 12;98(9):1151-8. Epub 2006 Apr 6.

11.

Ablation of triadin causes loss of cardiac Ca2+ release units, impaired excitation-contraction coupling, and cardiac arrhythmias.

Chopra N, Yang T, Asghari P, Moore ED, Huke S, Akin B, Cattolica RA, Perez CF, Hlaing T, Knollmann-Ritschel BE, Jones LR, Pessah IN, Allen PD, Franzini-Armstrong C, Knollmann BC.

Proc Natl Acad Sci U S A. 2009 May 5;106(18):7636-41. doi: 10.1073/pnas.0902919106. Epub 2009 Apr 21.

12.

Prevention of ventricular arrhythmia and calcium dysregulation in a catecholaminergic polymorphic ventricular tachycardia mouse model carrying calsequestrin-2 mutation.

Alcalai R, Wakimoto H, Arad M, Planer D, Konno T, Wang L, Seidman JG, Seidman CE, Berul CI.

J Cardiovasc Electrophysiol. 2011 Mar;22(3):316-24. doi: 10.1111/j.1540-8167.2010.01877.x. Epub 2010 Aug 30.

13.

Inhibition of cardiac Ca2+ release channels (RyR2) determines efficacy of class I antiarrhythmic drugs in catecholaminergic polymorphic ventricular tachycardia.

Hwang HS, Hasdemir C, Laver D, Mehra D, Turhan K, Faggioni M, Yin H, Knollmann BC.

Circ Arrhythm Electrophysiol. 2011 Apr;4(2):128-35. doi: 10.1161/CIRCEP.110.959916. Epub 2011 Jan 26.

14.

Sarcoplasmic reticulum calcium overloading in junctin deficiency enhances cardiac contractility but increases ventricular automaticity.

Yuan Q, Fan GC, Dong M, Altschafl B, Diwan A, Ren X, Hahn HH, Zhao W, Waggoner JR, Jones LR, Jones WK, Bers DM, Dorn GW 2nd, Wang HS, Valdivia HH, Chu G, Kranias EG.

Circulation. 2007 Jan 23;115(3):300-9. Epub 2007 Jan 15.

15.

Protein protein interactions between triadin and calsequestrin are involved in modulation of sarcoplasmic reticulum calcium release in cardiac myocytes.

Terentyev D, Viatchenko-Karpinski S, Vedamoorthyrao S, Oduru S, Györke I, Williams SC, Györke S.

J Physiol. 2007 Aug 15;583(Pt 1):71-80. Epub 2007 Jun 14.

16.
17.

Catecholaminergic polymorphic ventricular tachycardia from bedside to bench and beyond.

Katz G, Arad M, Eldar M.

Curr Probl Cardiol. 2009 Jan;34(1):9-43. doi: 10.1016/j.cpcardiol.2008.09.002. Review.

PMID:
19068246
18.

Dantrolene rescues arrhythmogenic RYR2 defect in a patient-specific stem cell model of catecholaminergic polymorphic ventricular tachycardia.

Jung CB, Moretti A, Mederos y Schnitzler M, Iop L, Storch U, Bellin M, Dorn T, Ruppenthal S, Pfeiffer S, Goedel A, Dirschinger RJ, Seyfarth M, Lam JT, Sinnecker D, Gudermann T, Lipp P, Laugwitz KL.

EMBO Mol Med. 2012 Mar;4(3):180-91. doi: 10.1002/emmm.201100194. Epub 2012 Jan 25.

19.

Genetic characterization of familial CPVT after 30 years.

Beery TA, Shah MJ, Benson DW.

Biol Res Nurs. 2009 Jul;11(1):66-72. doi: 10.1177/1099800409333369. Epub 2009 Apr 26.

PMID:
19398417
20.

Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia.

Postma AV, Denjoy I, Hoorntje TM, Lupoglazoff JM, Da Costa A, Sebillon P, Mannens MM, Wilde AA, Guicheney P.

Circ Res. 2002 Oct 18;91(8):e21-6.

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