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.
Inositol 1,4,5-trisphosphate receptors in human disease: A comprehensive update / Gambardella, J.; Lombardi, A.; Morelli, M. B.; Ferrara, J.; Santulli, G.. - In: JOURNAL OF CLINICAL MEDICINE. - ISSN 2077-0383. - 9:4(2020), p. 1096. [10.3390/jcm9041096]
Inositol 1,4,5-trisphosphate receptors in human disease: A comprehensive update
Gambardella J.;Santulli G.
2020
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
