Inositol 1,4,5-Trisphosphate Receptors in Human Disease: A Comprehensive Update
Jessica Gambardella1,2,3, Angela Lombardi1,4, Marco Bruno Morelli1,5
1Department of Medicine, Einstein-Mount Sinai Diabetes Research Center (ES-DRC), Fleischer Institute for Diabetes and Metabolism, Albert Einstein College of Medicine, New York, NY 10461, USA.
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.
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