Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia (Q28235110)

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scientific article (publication date: July 2007)

Language	Label	Description	Also known as
English	Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia	scientific article (publication date: July 2007)

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scholarly article

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

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catecholaminergic polymorphic ventricular tachycardia

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ventricular tachycardia

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inferred from title

Jonathan G Seidman

10

object named as

J G Seidman

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Christine E. Seidman

9

object named as

Christine E Seidman

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David C. Conner

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object named as

David A Conner

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5

object named as

Okan Toka

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2

object named as

Ronny Alcalai

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Cordula M. Wolf

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object named as

Cordula M Wolf

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3

object named as

Michael Arad

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Charles I Berul

7

object named as

Charles I Berul

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author name string

Lei Song

1

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Michael Eldar

8

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language of work or name

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publication date

July 2007

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Journal of Clinical Investigation

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117

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7

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1814-23

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

20 March 2017

Complex formation between junctin, triadin, calsequestrin, and the ryanodine receptor. Proteins of the cardiac junctional sarcoplasmic reticulum membrane

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

20 March 2017

Characterization of cardiac calsequestrin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

20 March 2017

Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

20 March 2017

Stabilization of cardiac ryanodine receptor prevents intracellular calcium leak and arrhythmias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

20 March 2017

A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

20 March 2017

A highly efficient recombineering-based method for generating conditional knockout mutations

1 reference

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7 April 2017

Assembling pieces of the cardiac puzzle; calreticulin and calcium-dependent pathways in cardiac development, health, and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

29 September 2017

Dichotomy of Ca2+ in the heart: contraction versus intracellular signaling

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

29 September 2017

Cardiac system bioenergetics: metabolic basis of the Frank-Starling law.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

29 September 2017

Coupled calcium release channels and their regulation by luminal and cytosolic ions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

29 September 2017

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

1 reference

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29 September 2017

Regulation of ryanodine receptors by calsequestrin: effect of high luminal Ca2+ and phosphorylation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

29 September 2017

Calreticulin in the heart

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

29 September 2017

Calcium-calcineurin signaling in the regulation of cardiac hypertrophy

1 reference

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29 September 2017

Calsequestrin and the calcium release channel of skeletal and cardiac muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

29 September 2017

Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

29 September 2017

The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model

1 reference

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29 September 2017

Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia: clinical features and assignment of the disease gene to chromosome 1p13-21.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

29 September 2017

Complete heart block and sudden death in mice overexpressing calreticulin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

29 September 2017

An abnormal Ca(2+) response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

29 September 2017

Cardiac electrophysiology in genetically engineered mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

29 September 2017

Calreticulin: one protein, one gene, many functions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

29 September 2017

Calreticulin is essential for cardiac development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

29 September 2017

Sarcoplasmic reticulum calsequestrins: structural and functional properties

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

29 September 2017

Ryanodine receptor/Ca2+ release channels and their regulation by endogenous effectors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

29 September 2017

ATPase Activities, Ca2+ Transport and Phosphoprotein Formation in Sarcoplasmic Reticulum Subfractions of Fast and Slow Rabbit Muscles

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

29 September 2017

The endoplasmic reticulum Ca2+ store: a view from the lumen

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2 June 2018

Tachycardia-induced cardiomyopathy: a review of animal models and clinical studies

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

2 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

2 June 2018

Size and shape of rabbit skeletal muscle calsequestrin

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

2 June 2018

Complete amino acid sequence of canine cardiac calsequestrin deduced by cDNA cloning

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

2 June 2018

Treatment of torsade de pointes with magnesium sulfate.

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2 June 2018

Effect of Mg2+ on the control of Ca2+ release in skeletal muscle fibres of the toad

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2 June 2018

Molecular cloning, functional expression and tissue distribution of the cDNA encoding frog skeletal muscle calsequestrin

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2 June 2018

Mechanisms of abnormal calcium homeostasis in mutations responsible for catecholaminergic polymorphic ventricular tachycardia.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1904315

27 November 2018

Implications of ventricular arrhythmia vulnerability during murine electrophysiology studies.

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27 November 2018

Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy.

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27 November 2018

Preparation of PCR-quality mouse genomic DNA with hot sodium hydroxide and tris (HotSHOT).

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27 November 2018

Calsequestrin: more than 'only' a luminal Ca2+ buffer inside the sarcoplasmic reticulum

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27 November 2018

Early changes in excitation-contraction coupling: transition from compensated hypertrophy to failure in Dahl salt-sensitive rat myocytes.

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27 November 2018

Measurement of heart rate and Q-T interval in the conscious mouse.

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27 November 2018

Purification and characterization of calsequestrin from canine cardiac sarcoplasmic reticulum and identification of the 53,000 dalton glycoprotein

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12 December 2020

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Phospholipid orientation in sarcoplasmic membranes: spin-label ESR and proton MNR studies

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12 December 2020

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Impaired cell shortening and relengthening with increased pacing frequency are intrinsic to the senescent mouse cardiomyocyte

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https://pubmed.ncbi.nlm.nih.gov/17607358

12 December 2020

based on heuristic

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Comparison of two murine models of familial hypertrophic cardiomyopathy

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https://pubmed.ncbi.nlm.nih.gov/17607358

12 December 2020

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

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https://pubmed.ncbi.nlm.nih.gov/17607358

12 December 2020

based on heuristic

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In vivo cardiac electrophysiology studies in the mouse

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https://pubmed.ncbi.nlm.nih.gov/17607358

12 December 2020

based on heuristic

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Magnesium inhibition of ryanodine-receptor calcium channels: evidence for two independent mechanisms

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https://pubmed.ncbi.nlm.nih.gov/17607358

12 December 2020

based on heuristic

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