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A mutation in calsequestrin, CASQ2D307H, impairs Sarcoplasmic Reticulum Ca2+ handling and causes complex ventricular arrhythmias in mice.
Dirksen WP, Lacombe VA, Chi M, Kalyanasundaram A, Viatchenko-Karpinski S, Terentyev D, Zhou Z, Vedamoorthyrao S, Li N, Chiamvimonvat N, Carnes CA, Franzini-Armstrong C, Györke S, Periasamy M. Dirksen WP, et al. Among authors: periasamy m. Cardiovasc Res. 2007 Jul 1;75(1):69-78. doi: 10.1016/j.cardiores.2007.03.002. Epub 2007 Mar 12. Cardiovasc Res. 2007. PMID: 17449018 Free PMC article.
The calsequestrin mutation CASQ2D307H does not affect protein stability and targeting to the junctional sarcoplasmic reticulum but compromises its dynamic regulation of calcium buffering.
Kalyanasundaram A, Bal NC, Franzini-Armstrong C, Knollmann BC, Periasamy M. Kalyanasundaram A, et al. Among authors: periasamy m. J Biol Chem. 2010 Jan 29;285(5):3076-83. doi: 10.1074/jbc.M109.053892. Epub 2009 Nov 17. J Biol Chem. 2010. PMID: 19920148 Free PMC article.
Functional consequences of stably expressing a mutant calsequestrin (CASQ2D307H) in the CASQ2 null background.
Kalyanasundaram A, Viatchenko-Karpinski S, Belevych AE, Lacombe VA, Hwang HS, Knollmann BC, Gyorke S, Periasamy M. Kalyanasundaram A, et al. Among authors: periasamy m. Am J Physiol Heart Circ Physiol. 2012 Jan 1;302(1):H253-61. doi: 10.1152/ajpheart.00578.2011. Epub 2011 Oct 7. Am J Physiol Heart Circ Physiol. 2012. PMID: 21984545 Free PMC article.
We recently reported that the mutant CASQ2(D307H) protein can be stably expressed in CASQ2 null hearts, and it targets appropriately to the junctional SR (Kalyanasundaram A, Bal NC, Franzini-Armstrong C, Knollmann BC, Periasamy M. J Biol Chem 285: 3076-3083, 2010). …
We recently reported that the mutant CASQ2(D307H) protein can be stably expressed in CASQ2 null hearts, and it targets appropriately to the …
Up-regulation of sarcoplasmic reticulum Ca(2+) uptake leads to cardiac hypertrophy, contractile dysfunction and early mortality in mice deficient in CASQ2.
Kalyanasundaram A, Lacombe VA, Belevych AE, Brunello L, Carnes CA, Janssen PM, Knollmann BC, Periasamy M, Gyørke S. Kalyanasundaram A, et al. Among authors: periasamy m. Cardiovasc Res. 2013 May 1;98(2):297-306. doi: 10.1093/cvr/cvs334. Epub 2012 Nov 6. Cardiovasc Res. 2013. PMID: 23135969 Free PMC article.
264 results