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Review
. 2020 Apr 12;9(4):1096.
doi: 10.3390/jcm9041096.

Inositol 1,4,5-Trisphosphate Receptors in Human Disease: A Comprehensive Update

Jessica Gambardella  1   2   3 , Angela Lombardi  1   4 , Marco Bruno Morelli  1   5 , John Ferrara  1 , Gaetano Santulli  1   2   3   5
Affiliations
Review

Inositol 1,4,5-Trisphosphate Receptors in Human Disease: A Comprehensive Update

Jessica Gambardella et al. J Clin Med. .

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.

Keywords: Alzheimer; GWAS; IP3 Receptors; ITPRs; ataxia; autoimmune disease; cancer; cardiovascular disease; diabetes; mutations.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Representative structure of inositol 1,4,5-trisphosphate receptors (ITPRs) (1-3) showing disease-related mutations. In the middle, representative “mushroom-like structure” of ITPRs. For clarity, only the crystal of human isoform 3 is shown. Top left corner: View from the top; bottom right corner: View from the bottom. The residues in red, blue, and yellow indicate the mutations in ITPR1, 2, and 3, respectively, that have been hitherto reported in humans.
See this image and copyright information in PMC

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