Article

IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta

2024-06-03

Abstract excerpt

Inositol 1,4,5-trisphosphate receptors (IP 3 R) mediate Ca 2+ release from intracellular stores, contributing to complex regulation of numerous physiological responses. The involvement of the three IP 3 R genes ( ITPR1 , ITPR2 and ITPR3 ) in inherited human diseases has started to shed light on the essential roles of each receptor in different human tissues and cell types. Variants in the ITPR3 gene, which...

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Literature Corpus work: b4db89ca-4d5e-5bfa-88bc-03181da106c1
DOI: 10.1101/2024.06.03.597092

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