Associated Papers
Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.
Blanco E et al.
The Journal of Experimental Medicine, 2025
IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta.
Hytönen MK et al.
Plos Genetics, 2025
A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease.
Molitor A et al.
Science Advances, 2024
Type 3 IP3 receptor: Its structure, functions, and related disease implications.
Wu L et al.
Channels (austin, Tex.), 2023
Point mutations in the gene encoding IP3 receptor subtype 3 cause impairment in T-cell and B-cell immune responses via dysfunctional Ca2+ mobilization.
Nadeem A et al.
Cellular & Molecular Immunology, 2023
Disrupted Ca2+ homeostasis and immunodeficiency in patients with functional IP3 receptor subtype 3 defects.
Neumann J et al.
Cellular & Molecular Immunology, 2023
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