A Gain-of-Function Mutation in the Ca<sup>2+</sup> Channel ORAI1 Causes Stormorken Syndrome with Tubular Aggregates in Mice

A Gain-of-Function Mutation in the Ca<sup>2+</sup> Channel ORAI1 Causes Stormorken Syndrome with Tubular Aggregates in Mice

Store-operated Ca<sup>2+</sup> entry (SOCE) controls Ca<sup>2+</sup> homeostasis and mediates multiple Ca<sup>2+</sup>-dependent signaling pathways and cellular processes. It relies on the concerted activity of the reticular Ca<sup>2+</sup> sensor STIM...

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Bibliographic Details
Main Authors: Laura Pérez-Guàrdia, Emma Lafabrie, Nadège Diedhiou, Coralie Spiegelhalter, Jocelyn Laporte, Johann Böhm
Format: Article
Language:English
Published: MDPI AG 2024-11-01
Series:Cells
Subjects:
myopathy
calcium
Stormorken syndrome
ORAI1
STIM1
SOCE
Online Access:https://www.mdpi.com/2073-4409/13/22/1829
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