Calsequestrin (CASQ) is a main calcium binding protein located within the lumen of sarcoplasmic reticulum [24].
Regulation of calcium binding proteins calreticulin and calsequestrin during differentiation in the myogenic cell line L6.
Beard et al., "Antibodies targeting the calcium binding skeletal muscle protein
calsequestrin are specific markers of ophthalmopathy and sensitive indicators of ocular myopathy in patients with Graves' disease," Clinical & Experimental Immunology, vol.
Gene Protein Mutation Donor cell types CASQ2
Calsequestrin 2 p.D307H Fibroblasts RyR2 Ryanodine receptor 2 p.P2328S Fibroblasts RyR2 Ryanodine receptor 2 p.F2483I Fibroblasts RyR2 Ryanodine receptor 2 p.S406L Fibroblasts Gene Reprogramming method References CASQ2 Lv (a), OSKM (b) [39] RyR2 RV (c), OSKM [47] RyR2 RV, OSKM [45] RyR2 RV, OSKM [46] LV (a): lentiviruses, RV (c): retroviruses, and OCT4 (O), SOX2 (S), KLF4 (K), and c-MYC (M) (b).
The researchers developed a mouse model for CPVT (by eliminating the
calsequestrin gene) and proposed using the model to study medications and interventions for the disorder.
Staining of the [Ca.sup.2+]-binding proteins,
calsequestrin, calmodulin, troponin C, and S-100, with the cationic carbocyanine dye "Stains-all".
Patients selected for the study had effort-induced polymorphic ventricular arrhythmias; this symptom was recently also found to be associated with mutations in the cardiac
calsequestrin gene (CASQ2; OMIM 114251) (37).