Inositol 1,4,5-trisphosphate receptors in human disease: A comprehensive update

Jessica Gambardella; Angela Lombardi; Marco Bruno Morelli; John Ferrara; Gaetano Santulli

doi:10.3390/jcm9041096

Inositol 1,4,5-trisphosphate receptors in human disease: A comprehensive update

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

Medicine

Research output: Contribution to journal › Review article › peer-review

19 Scopus citations

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.

Original language	English (US)
Article number	1096
Journal	Journal of Clinical Medicine
Volume	9
Issue number	4
DOIs	https://doi.org/10.3390/jcm9041096
State	Published - Apr 2020

Keywords

Alzheimer
Ataxia
Autoimmune disease
Cancer
Cardiovascular disease
Diabetes
GWAS
IP3 Receptors
ITPRs
Mutations

ASJC Scopus subject areas

General Medicine

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.3390/jcm9041096

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title = "Inositol 1,4,5-trisphosphate receptors in human disease: A comprehensive update",

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, Ataxia, Autoimmune disease, Cancer, Cardiovascular disease, Diabetes, GWAS, IP3 Receptors, ITPRs, Mutations",

author = "Jessica Gambardella and Angela Lombardi and Morelli, {Marco Bruno} and John Ferrara and Gaetano Santulli",

note = "Publisher Copyright: {\textcopyright} 2020 by the authors. Licensee MDPI, Basel, Switzerland.",

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language = "English (US)",

volume = "9",

journal = "Journal of Clinical Medicine",

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T1 - Inositol 1,4,5-trisphosphate receptors in human disease

T2 - A comprehensive update

AU - Gambardella, Jessica

AU - Lombardi, Angela

AU - Morelli, Marco Bruno

AU - Ferrara, John

AU - Santulli, Gaetano

PY - 2020/4

Y1 - 2020/4

N2 - 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.

AB - 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.

KW - Alzheimer

KW - Ataxia

KW - Autoimmune disease

KW - Cancer

KW - Cardiovascular disease

KW - Diabetes

KW - GWAS

KW - IP3 Receptors

KW - ITPRs

KW - Mutations

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DO - 10.3390/jcm9041096

M3 - Review article

AN - SCOPUS:85086366826

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VL - 9

JO - Journal of Clinical Medicine

JF - Journal of Clinical Medicine

IS - 4

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ER -

Inositol 1,4,5-trisphosphate receptors in human disease: A comprehensive update

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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