| Calsequestrin 2 overexpression in breast cancer increases tumorigenesis and metastasis by modulating the tumor microenvironment. | Calsequestrin 2 overexpression in breast cancer increases tumorigenesis and metastasis by modulating the tumor microenvironment.
Kim JH, Lee ES, Yun J, Ryu HS, Kim HK, Ju YW, Kim K, Kim JI, Moon HG., Free PMC Article | 04/2/2022 |
| An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia. | An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia.
Ng K, Titus EW, Lieve KV, Roston TM, Mazzanti A, Deiter FH, Denjoy I, Ingles J, Till J, Robyns T, Connors SP, Steinberg C, Abrams DJ, Pang B, Scheinman MM, Bos JM, Duffett SA, van der Werf C, Maltret A, Green MS, Rutberg J, Balaji S, Cadrin-Tourigny J, Orland KM, Knight LM, Brateng C, Wu J, Tang AS, Skanes AC, Manlucu J, Healey JS, January CT, Krahn AD, Collins KK, Maginot KR, Fischbach P, Etheridge SP, Eckhardt LL, Hamilton RM, Ackerman MJ, Noguer FRI, Semsarian C, Jura N, Leenhardt A, Gollob MH, Priori SG, Sanatani S, Wilde AAM, Deo RC, Roberts JD., Free PMC Article | 09/4/2021 |
| Molecular adaptation to calsequestrin 2 (CASQ2) point mutations leading to catecholaminergic polymorphic ventricular tachycardia (CPVT): comparative analysis of R33Q and D307H mutants. | Molecular adaptation to calsequestrin 2 (CASQ2) point mutations leading to catecholaminergic polymorphic ventricular tachycardia (CPVT): comparative analysis of R33Q and D307H mutants.
Valle G, Arad M, Volpe P., Free PMC Article | 08/14/2021 |
| Catecholaminergic Polymorphic Ventricular Tachycardia. | Catecholaminergic Polymorphic Ventricular Tachycardia.
Kim CW, Aronow WS, Dutta T, Frenkel D, Frishman WH. | 07/31/2021 |
| Association of T66A polymorphism in CASQ2 with PR interval in a Chinese population.", trans "Assoziation des T66A-Polymorphismus im CASQ2-Gen mit dem PR-Intervall in einer chinesischen Population. | Association of T66A polymorphism in CASQ2 with PR interval in a Chinese population.
Li X, Guo LZ, Liu N, Du X, Bai R, Dong JZ, Ma CS. | 04/17/2021 |
| The structure of a calsequestrin filament reveals mechanisms of familial arrhythmia. | The structure of a calsequestrin filament reveals mechanisms of familial arrhythmia.
Titus EW, Deiter FH, Shi C, Wojciak J, Scheinman M, Jura N, Deo RC., Free PMC Article | 02/13/2021 |
| CASQ2 variants are associated with catecholaminergic polymorphic ventricular tachycardia. | CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia.
Li Q, Guo R, Gao L, Cui L, Zhao Z, Yu X, Yuan Y, Xu X., Free PMC Article | 07/4/2020 |
| We show for the first time a heterozygous CASQ2 variant causing autosomal dominant CPVT in a large family with a severe phenotype. | A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia.
Gray B, Bagnall RD, Lam L, Ingles J, Turner C, Haan E, Davis A, Yang PC, Clancy CE, Sy RW, Semsarian C., Free PMC Article | 01/13/2018 |
| a direct interaction exists between RyR2 and CSQ2, is reported. | Calsequestrin interacts directly with the cardiac ryanodine receptor luminal domain.
Handhle A, Ormonde CE, Thomas NL, Bralesford C, Williams AJ, Lai FA, Zissimopoulos S., Free PMC Article | 08/12/2017 |
| induced Pluripotent Stem Cell-derived cardiomyocytes are useful for investigating the similarities/differences in the pathophysiological consequences of RyR2 versus CASQ2 mutations underlying Catecholaminergic polymorphic ventricular tachycardia. | Functional abnormalities in iPSC-derived cardiomyocytes generated from CPVT1 and CPVT2 patients carrying ryanodine or calsequestrin mutations.
Novak A, Barad L, Lorber A, Gherghiceanu M, Reiter I, Eisen B, Eldor L, Itskovitz-Eldor J, Eldar M, Arad M, Binah O., Free PMC Article | 02/27/2016 |
| Mutations in the MYBPC3 and CASQ2 genes and six combinations between loci in the MYBPC3, MYH7 and CASQ2 genes were responsible for cardiomyopathy risk in a studied cohort. | Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group.
Glotov AS, Kazakov SV, Zhukova EA, Alexandrov AV, Glotov OS, Pakin VS, Danilova MM, Poliakova IV, Niyazova SS, Chakova NN, Komissarova SM, Kurnikova EA, Sarana AM, Sherbak SG, Sergushichev AA, Shalyto AA, Baranov VS. | 02/27/2016 |
| We observed association between a CASQ2 polymorphism and SCA due to VA in patients with CAD adjusting for CHF and independent associations between CASQ2 SNPs and CHF adjusting for SCA. | Association of CASQ2 polymorphisms with sudden cardiac arrest and heart failure in patients with coronary artery disease.
Refaat MM, Aouizerat BE, Pullinger CR, Malloy M, Kane J, Tseng ZH., Free PMC Article | 12/6/2014 |
| The sarcoplasmic reticulum calcium content in human type II fibres is primarily determined by the CSQ1 abundance, and in type I fibres, by the combined amounts of both CSQ1 and CSQ2. | Endogenous and maximal sarcoplasmic reticulum calcium content and calsequestrin expression in type I and type II human skeletal muscle fibres.
Lamboley CR, Murphy RM, McKenna MJ, Lamb GD., Free PMC Article | 08/23/2014 |
| Molecular analysis of the CASQ2 gene in 43 probands with Catecholaminergic polymorphic ventricular tachycardia were performed and eight mutations in five patients, were identified. | Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.
Roux-Buisson N, Rendu J, Denjoy I, Guicheney P, Goldenberg A, David N, Faivre L, Barthez O, Danieli GA, Marty I, Lunardi J, Fauré J. | 04/19/2014 |
| Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. | Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan.
Kawamura M, Ohno S, Naiki N, Nagaoka I, Dochi K, Wang Q, Hasegawa K, Kimura H, Miyamoto A, Mizusawa Y, Itoh H, Makiyama T, Sumitomo N, Ushinohama H, Oyama K, Murakoshi N, Aonuma K, Horigome H, Honda T, Yoshinaga M, Ito M, Horie M. | 02/8/2014 |
| In a consanguineous family, a novel homozygous CASQ2 mutation (p.L77P) was identified in a child with CPVT who required implantation of a cardioverter defibrillator due to episodes of syncope while on medical therapy | The phenotype of a CASQ2 mutation in a Saudi family with catecholaminergic polymorphic ventricular tachycardia.
Al-Hassnan ZN, Tulbah S, Al-Manea W, Al-Fayyadh M. | 11/16/2013 |
| A review of the physiology of Casq2 in cardiac Ca2+ handling and discuss pathophysiological mechanisms that lead to catecholaminergic polymorphic ventricular tachycardia caused by CASQ2 mutations. | Calsequestrin mutations and catecholaminergic polymorphic ventricular tachycardia.
Faggioni M, Kryshtal DO, Knollmann BC., Free PMC Article | 06/8/2013 |
| patients with CASQ2-associated CPVT should be recommended to receive ICDs to prevent sudden death when medical therapy is not effective. | Importance of ventricular tachycardia storms not terminated by implantable cardioverter defibrillators shocks in patients with CASQ2 associated catecholaminergic polymorphic ventricular tachycardia.
Marai I, Khoury A, Suleiman M, Gepstein L, Blich M, Lorber A, Boulos M. | 09/8/2012 |
| Aspartate to histidine casq2 mutation causes arrhythmia in cardiomyocytes generated from catecholaminergic polymorphic ventricular tachycardia patients. | Cardiomyocytes generated from CPVTD307H patients are arrhythmogenic in response to β-adrenergic stimulation.
Novak A, Barad L, Zeevi-Levin N, Shick R, Shtrichman R, Lorber A, Itskovitz-Eldor J, Binah O., Free PMC Article | 06/16/2012 |
| Ca(2+) and JNT-dependent disassembly of the CSQ2 polymer | Role of Junctin protein interactions in cellular dynamics of calsequestrin polymer upon calcium perturbation.
Lee KW, Maeng JS, Choi JY, Lee YR, Hwang CY, Park SS, Park HK, Chung BH, Lee SG, Kim YS, Jeon H, Eom SH, Kang C, Kim DH, Kwon KS., Free PMC Article | 03/10/2012 |
| Two causative genes of CPVT have been identified: RYR2, encoding the cardiac ryanodine receptor (RyR2) Ca(2+) release channel, and CASQ2, encoding cardiac calsequestrin. Their mutation have been found in 60% of patients with CPVT. | Mechanism underlying catecholaminergic polymorphic ventricular tachycardia and approaches to therapy.
Watanabe H, Knollmann BC. | 03/3/2012 |
| Common variations in or near CASQ2, GPD1L, and NOS1AP are associated with increased risk of sudden cardiac death in patients with coronary artery disease | Common variants in CASQ2, GPD1L, and NOS1AP are significantly associated with risk of sudden death in patients with coronary artery disease.
Westaway SK, Reinier K, Huertas-Vazquez A, Evanado A, Teodorescu C, Navarro J, Sinner MF, Gunson K, Jui J, Spooner P, Kaab S, Chugh SS., Free PMC Article | 02/18/2012 |
| Studies identified two phosphorylation sites, Ser(385) and Ser(393 in hCASQ2 by mass-spectroscopy. | Phosphorylation of human calsequestrin: implications for calcium regulation.
Sanchez EJ, Munske GR, Criswell A, Milting H, Dunker AK, Kang C. | 10/22/2011 |
| Catecholaminergic polymorphic ventricular tachycardia (CPTV) mutations modify CASQ2 behaviour, including folding, aggregation/polymerization and selectivity towards Ca2+. | Probing cationic selectivity of cardiac calsequestrin and its CPVT mutants.
Bal NC, Jena N, Sopariwala D, Balaraju T, Shaikh S, Bal C, Sharon A, Gyorke S, Periasamy M. | 09/17/2011 |
| up-regulation of casq2 gene in the thyroid of patients with Graves' Hyperthyroidism may lead to the production of autoantibodies and sensitized T-lymphocytes, which cross-react with calsequestrin of patients who develop ophthalmopathy. | The cardiac calsequestrin gene (CASQ2) is up-regulated in the thyroid in patients with Graves' ophthalmopathy--support for a role of autoimmunity against calsequestrin as the triggering event.
Wescombe L, Lahooti H, Gopinath B, Wall JR. | 05/14/2011 |