The Structural-Functional Crosstalk of the Calsequestrin System: Insights and Pathological Implications.

ABSTRACT: Calsequestrin (CASQ) is a key intra-sarcoplasmic reticulum Ca²⁺-handling protein that plays a pivotal role in the contraction of cardiac and skeletal muscles. Its Ca²⁺-dependent polymerization dynamics shape the translation of electric excitation signals to the Ca²⁺-induced contraction of the actin-myosin architecture. Mutations in CASQ are linked to life-threatening pathological conditions, including tubular aggregate myopathy, malignant hyperthermia, and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). The variability in the penetrance of these phenotypes and the lack of a clear understanding of the disease mechanisms associated with CASQ mutations pose a major challenge to the development of effective therapeutic strategies. In vitro studies

SUBMITTER: Marabelli C 

PROVIDER: S-EPMC10741413 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature