Disease-associated mutations in inositol 1,4,5-trisphosphate receptor subunits impair channel function
Lara E. Terry, Kamil J. Alzayady, Amanda M. Wahl, Sundeep Malik, David I. Yule
Abstract
R structure, as well as on the stoichiometry of mutant subunits assembled within the tetrameric channel. These studies provide insight into the pathogenesis and penetrance of these devastating human diseases.
Topics & Concepts
InositolInositol trisphosphateInositol trisphosphate receptorFunction (biology)DiseaseReceptorCell biologyProtein subunitBiologyChemistryGeneticsNeuroscienceInternal medicineMedicineGeneIon channel regulation and functionProtein Kinase Regulation and GTPase SignalingCardiac electrophysiology and arrhythmias