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A Gain-of-Function Mutation in the Ca2+ Channel ORAI1 Causes Stormorken Syndrome with Tubular Aggregates in Mice.

Cells - 6 Nov 2024

Pérez-Guàrdia Laura, Lafabrie Emma, Diedhiou Nadège, Spiegelhalter Coralie, Laporte Jocelyn, Böhm Johann

Abstract excerpt

Store-operated Ca2+ entry (SOCE) controls Ca2+ homeostasis and mediates multiple Ca2+-dependent signaling pathways and cellular processes. It relies on the concerted activity of the reticular Ca2+ sensor STIM1 and the plasma membrane Ca2+ channel ORAI1. STIM1 and ORAI1 gain-of-function (GoF) mutations induce SOCE overactivity and excessive Ca2+ influx, leading to tubular aggregate myopathy (TAM) and Stormorken...

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Blood Platelet Disorders
Dyslexia
Erythrocytes, Abnormal
Ichthyosis
Myopathies, Structural, Congenital

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Stromal Interaction Molecule 1

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PMID: 39594579
DOI: 10.3390/cells13221829
PMCID: PMC11592465

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A Gain-of-Function Mutation in the Ca2+ Channel ORAI1 Causes Stormorken Syndrome with Tubular Aggregates in Mice.PMID 39594579Read ↗

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