期刊
JOURNAL OF CLINICAL MEDICINE
卷 9, 期 4, 页码 -出版社
MDPI
DOI: 10.3390/jcm9041096
关键词
Alzheimer; ataxia; autoimmune disease; cancer; cardiovascular disease; diabetes; GWAS; IP3 Receptors; ITPRs; mutations
资金
- NIH [R01-HL146691, R01-DK123259, R01-DK033823, P30-DK020541, R00-DK107895]
- American Heart Association [AHA-20POST35211151]
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.
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