Inositol 1,4,5-Trisphosphate Receptors in Human Disease: A Comprehensive Update.
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ABSTRACT:
SUBMITTER: Gambardella J
PROVIDER: S-EPMC7231134 | biostudies-literature | 2020 Apr
REPOSITORIES: biostudies-literature
Publications
Inositol 1,4,5-Trisphosphate Receptors in Human Disease: A Comprehensive Update.
Gambardella Jessica J Lombardi Angela A Morelli Marco Bruno MB Ferrara John J Santulli Gaetano G
Journal of clinical medicine 20200412 4
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 ...[more]
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