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

Year: 2020

Type: article

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.

Source: Journal of Clinical Medicine

DOI: 10.3390/jcm9041096

Authors: Jessica Gambardella, Angela Lombardi, Marco Bruno Morelli, John Ferrara, Gaetano Santulli

Institutions: Albert Einstein College of Medicine, University of Naples Federico II

Language: English

Topic: Ion channel regulation and function

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,324