Article
Disease-associated mutations in inositol 1,4,5-trisphosphate receptor subunits impair channel function.
The Journal of biological chemistry - 25 Dec 2020
Terry Lara E, Alzayady Kamil J, Wahl Amanda M, Malik Sundeep, Yule David I
Abstract excerpt
The inositol 1,4,5-trisphosphate (IP3) receptors (IP3Rs), which form tetrameric channels, play pivotal roles in regulating the spatiotemporal patterns of intracellular calcium signals. Mutations in IP3Rs have been increasingly associated with many debilitating human diseases such as ataxia, Gillespie syndrome, and generalized anhidrosis. However, how these mutations affect IP3R function, and how the perturbation...
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