Article
Catecholaminergic polymorphic ventricular tachycardia-related mutations R33Q and L167H alter calcium sensitivity of human cardiac calsequestrin.
The Biochemical journal - 15 Jul 2008
Valle Giorgia, Galla Daniela, Nori Alessandra, Priori Silvia G, Gyorke Sandor, de Filippis Vincenzo, Volpe Pompeo
Abstract excerpt
Two missense mutations, R33Q and L167H, of hCASQ2 (human cardiac calsequestrin), a protein segregated to the lumen of the sarcoplasmic reticulum, are linked to the autosomal recessive form of CPVT (catecholaminergic polymorphic ventricular tachycardia). The effects of these mutations on the conformational, stability and Ca(2+) sensitivity properties of hCASQ2, were investigated. Recombinant WT (wild-type) and...
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