Article
The p.E152K-STIM1 mutation deregulates Ca2+ signaling contributing to chronic pancreatitis.
Journal of cell science - 10 Feb 2021
Burgos Miguel, Philippe Reginald, Antigny Fabrice, Buscaglia Paul, Masson Emmanuelle, Mukherjee Sreya, Dubar Pauline, Le Maréchal Cédric, Campeotto Florence, Lebonvallet Nicolas, Frieden Maud, Llopis Juan, Domingo Beatriz, Stathopulos Peter B, Ikura Mitsuhiko, Brooks Wesley, Guida Wayne, Chen Jian-Min, Ferec Claude, Capiod Thierry, Mignen Olivier
Abstract excerpt
Since deregulation of intracellular Ca2+ can lead to intracellular trypsin activation, and stromal interaction molecule-1 (STIM1) protein is the main regulator of Ca2+ homeostasis in pancreatic acinar cells, we explored the Ca2+ signaling in 37 STIM1 variants found in three pancreatitis patient cohorts. Extensive functional analysis of one particular variant, p.E152K, identified in three patients, provided a...
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