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

被引：21

作者：

Gambardella, Jessica ^{[1
,2
,3
]}

Lombardi, Angela ^{[1
,4
]}

Morelli, Marco Bruno ^{[1
,5
]}

Ferrara, John ^{[1
]}

Santulli, Gaetano ^{[1
,2
,3
,5
]}

机构：

[1] Albert Einstein Coll Med, Einstein Mt Sinai Diabet Res Ctr ES DRC, Fle Inst Diabet & Metab, Dept Med, New York, NY 10461 USA

[2] Int Translat Res & Med Educ Consortium ITME, Naples 80100, Italy

[3] Univ Naples Federico II, Dept Adv Biomed Sci, Naples 80131, Italy

[4] Albert Einstein Coll Med, Dept Microbiol & Immunol, New York, NY 10461 USA

[5] Albert Einstein Coll Med, Wilf Family Cardiovasc Res Inst, Dept Mol Pharmacol, New York, NY 10461 USA

来源：

JOURNAL OF CLINICAL MEDICINE | 2020年 / 9卷 / 04期

关键词：

Alzheimer; ataxia; autoimmune disease; cancer; cardiovascular disease; diabetes; GWAS; IP3; Receptors; ITPRs; mutations; GENOME-WIDE ASSOCIATION; CAUSES SPINOCEREBELLAR ATAXIA; APOPTOTIC CA2+ SIGNALS; CALCIUM-RELEASE; ENDOPLASMIC-RETICULUM; PURKINJE-CELL; P-400; PROTEIN; CEREBELLAR HYPOPLASIA; SUSCEPTIBILITY GENE; MISSENSE MUTATION;

D O I：

10.3390/jcm9041096

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页数：16

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