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Tubular aggregate myopathy (TAM) is a heritable, myopathy primarily characterized by progressive muscle weakness, elevated levels of creatine kinase (CK), hypocalcemia, exercise intolerance, and the presence of tubular aggregates. Here, we generated a knock-in mouse model of TAM harboring a glycine-...
ORGANISM(S): Mus musculus (Mouse) 
2025-05-07 | PXD053472 | Pride
An ORAI1 mutation with mixed loss and gain of function properties causes combined immunodeficiency
Platelet-derived growth factor (PDGF) signalling and the subsequent activation of the calcium ion channel, ORAI1 are critical drivers of pathological remodelling of native vascular smooth muscle cells to proliferative state, which is a process associated with various vascular diseases. This study ai...
ORGANISM(S): Homo sapiens 
Microglial reactivity and neuroinflammation-driven in motivational behaviors are regulated by Orai1 channels
Oral cancer causes pain associated with cancer progression. The mechanism(s) underlying the pain is not fully understood. We report here that the function of the Ca2+ channel ORAI1 is an important regulator of oral cancer pain. ORAI1 was highly expressed in tumor samples from oral cancer patients an...
ORGANISM(S): Homo sapiens 
2023-12-27 | GSE236706 | GEO
Ca2+ influx through ORAI1 and ORAI2 channels regulates chromatin accessibility in CD4+ T cells
Changes in calcium homeostasis and gene expression implicated in epilepsy in hippocampi of mice overexpressing ORAI1
ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome
ORAI1 channel function is a driver in oral cancer progression and pain
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