Inositol 1,4,5-Trisphosphate Receptors in Human Disease: A Comprehensive Update
Jessica Gambardella, Angela Lombardi, Marco Bruno Morelli, John J. Ferrara, Gaetano Santulli
Abstract
Inositol 1,4,5-trisphosphate receptors (ITPRs) are intracellular calcium release channels located on the endoplasmic reticulum of virtually every cell. Herein, we are reporting an updated systematic summary of the current knowledge on the functional role of ITPRs in human disorders. Specifically, we are describing the involvement of its loss-of-function and gain-of-function mutations in the pathogenesis of neurological, immunological, cardiovascular, and neoplastic human disease. Recent results from genome-wide association studies are also discussed.
Topics & Concepts
MedicineEndoplasmic reticulumReceptorInositolPathogenesisIntracellularDiseaseCell biologyCalcium in biologyHuman diseaseNeuroscienceFunction (biology)BioinformaticsComputational biologyImmunologyPathologyInternal medicineBiologyGenetics and Neurodevelopmental DisordersAdenosine and Purinergic SignalingCellular transport and secretion