Ryanodine receptor and calsequestrin in arrhythmogenesis: what we have learnt from genetic diseases and transgenic mice (Q37332464)

19 August 2017

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title

Ryanodine receptor and calsequestrin in arrhythmogenesis: what we have learnt from genetic diseases and transgenic mice (English)

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19 August 2017

Nian Liu

1

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19 August 2017

Nicoletta Rizzi

series ordinal

2

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19 August 2017

Luca Boveri

series ordinal

3

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19 August 2017

Silvia G Priori

series ordinal

4

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19 August 2017

5 November 2008

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Journal of Molecular and Cellular Cardiology

19 August 2017

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19 August 2017

46

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19 August 2017

2

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19 August 2017

149-159

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Altered intracellular Ca2+ handling in heart failure

19 August 2017

1 reference

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Novel therapeutic approaches for heart failure by normalizing calcium cycling

7 January 2021

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Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients

7 January 2021

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Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia

7 January 2021

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A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel

7 January 2021

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Catecholaminergic Polymorphic Ventricular Tachycardia

7 January 2021

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

7 January 2021

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Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients.

7 January 2021

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A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22

7 January 2021

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Left cardiac sympathetic denervation for catecholaminergic polymorphic ventricular tachycardia

7 January 2021

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Enhanced basal activity of a cardiac Ca2+ release channel (ryanodine receptor) mutant associated with ventricular tachycardia and sudden death

7 January 2021

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Sudden death in familial polymorphic ventricular tachycardia associated with calcium release channel (ryanodine receptor) leak

7 January 2021

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Ryanodine receptor mutations associated with stress-induced ventricular tachycardia mediate increased calcium release in stimulated cardiomyocytes

7 January 2021

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FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death

7 January 2021

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Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ release channels.

7 January 2021

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Beta-blockers restore calcium release channel function and improve cardiac muscle performance in human heart failure.

7 January 2021

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PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts

7 January 2021

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Ryanodine receptors, FKBP12, and heart failure

7 January 2021

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Protection from cardiac arrhythmia through ryanodine receptor-stabilizing protein calstabin2.

7 January 2021

1 reference

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Enhanced store overload-induced Ca2+ release and channel sensitivity to luminal Ca2+ activation are common defects of RyR2 mutations linked to ventricular tachycardia and sudden death

7 January 2021

1 reference

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K201 (JTV519) suppresses spontaneous Ca2+ release and [3H]ryanodine binding to RyR2 irrespective of FKBP12.6 association

7 January 2021

1 reference

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Arrhythmogenesis in catecholaminergic polymorphic ventricular tachycardia: insights from a RyR2 R4496C knock-in mouse model

7 January 2021

1 reference

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Identification of target domains of the cardiac ryanodine receptor to correct channel disorder in failing hearts

7 January 2021

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Gating Properties of SCN5A Mutations and the Response to Mexiletine in Long-QT Syndrome Type 3 Patients

7 January 2021

1 reference

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RyR2 mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced Ca2+ release (SOICR)

7 January 2021

1 reference

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Functional heterogeneity of ryanodine receptor mutations associated with sudden cardiac death.

7 January 2021

1 reference

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Loss of luminal Ca2+ activation in the cardiac ryanodine receptor is associated with ventricular fibrillation and sudden death

7 January 2021

1 reference

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Regulation of cardiac muscle Ca2+ release channel by sarcoplasmic reticulum lumenal Ca2+

7 January 2021

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Ca2+ stores regulate ryanodine receptor Ca2+ release channels via luminal and cytosolic Ca2+ sites

7 January 2021

1 reference

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Defective regulation of interdomain interactions within the ryanodine receptor plays a key role in the pathogenesis of heart failure

7 January 2021

1 reference

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Arrhythmogenic mutation-linked defects in ryanodine receptor autoregulation reveal a novel mechanism of Ca2+ release channel dysfunction

7 January 2021

1 reference

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Bidirectional ventricular tachycardia and fibrillation elicited in a knock-in mouse model carrier of a mutation in the cardiac ryanodine receptor.

7 January 2021

1 reference

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Mice with the R176Q cardiac ryanodine receptor mutation exhibit catecholamine-induced ventricular tachycardia and cardiomyopathy.

7 January 2021

1 reference

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Mutant ryanodine receptors in catecholaminergic polymorphic ventricular tachycardia generate delayed afterdepolarizations due to increased propensity to Ca2+ waves

7 January 2021

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Calcium overload and cardiac function

7 January 2021

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Arrhythmogenic mechanisms in a mouse model of catecholaminergic polymorphic ventricular tachycardia

7 January 2021

1 reference

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Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers.

7 January 2021

1 reference

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Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)

7 January 2021

1 reference

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Macromolecular complexes regulating cardiac ryanodine receptor function.

7 January 2021

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Calsequestrin determines the functional size and stability of cardiac intracellular calcium stores: Mechanism for hereditary arrhythmia

7 January 2021

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Calsequestrin mutant D307H exhibits depressed binding to its protein targets and a depressed response to calcium

7 January 2021

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Characterization of human cardiac calsequestrin and its deleterious mutants

7 January 2021

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A mutation in calsequestrin, CASQ2D307H, impairs Sarcoplasmic Reticulum Ca2+ handling and causes complex ventricular arrhythmias in mice

7 January 2021

1 reference

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Abnormal calcium signaling and sudden cardiac death associated with mutation of calsequestrin

7 January 2021

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

7 January 2021

1 reference

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Catecholaminergic polymorphic ventricular tachycardia-related mutations R33Q and L167H alter calcium sensitivity of human cardiac calsequestrin

7 January 2021

1 reference

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

7 January 2021

1 reference

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Luminal Ca2+ regulation of single cardiac ryanodine receptors: insights provided by calsequestrin and its mutants

7 January 2021

1 reference

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Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia

7 January 2021

1 reference

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The role of calsequestrin, triadin, and junctin in conferring cardiac ryanodine receptor responsiveness to luminal calcium

7 January 2021

1 reference

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Modest reductions of cardiac calsequestrin increase sarcoplasmic reticulum Ca2+ leak independent of luminal Ca2+ and trigger ventricular arrhythmias in mice

7 January 2021

1 reference

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Unexpected structural and functional consequences of the R33Q homozygous mutation in cardiac calsequestrin: a complex arrhythmogenic cascade in a knock in mouse model

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2008.10.012

10.1016/J.YJMCC.2008.10.012

7 January 2021

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DOI

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19 August 2017

1 reference