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

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

Research output: Contribution to journalReview articlepeer-review

10 Scopus citations


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 languageEnglish (US)
Article number1096
JournalJournal of Clinical Medicine
Issue number4
StatePublished - Apr 2020


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

ASJC Scopus subject areas

  • Medicine(all)


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