Role of STIM1/ORAI1-mediated store-operated Ca2+ entry in skeletal muscle physiology and disease

A Michelucci, M García-Castañeda, S Boncompagni… - Cell calcium, 2018 - Elsevier
Abstract Store-operated Ca 2+ entry (SOCE) is a Ca 2+ entry mechanism activated by
depletion of intracellular Ca 2+ stores. In skeletal muscle, SOCE is mediated by an …

STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases

R Silva-Rojas, J Laporte, J Böhm - Frontiers in Physiology, 2020 - frontiersin.org
Store-operated Ca2+ entry (SOCE) is a ubiquitous and essential mechanism regulating
Ca2+ homeostasis in all tissues, and controls a wide range of cellular functions including …

ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency

J Lian, M Cuk, S Kahlfuss, L Kozhaya, M Vaeth… - Journal of Allergy and …, 2018 - Elsevier
Background Store-operated Ca 2+ entry (SOCE) through Ca 2+ release–activated Ca 2+
channels is an essential signaling pathway in many cell types. Ca 2+ release–activated Ca …

Store-operated Ca2+ entry regulates Ca2+-activated chloride channels and eccrine sweat gland function

AR Concepcion, M Vaeth, LE Wagner… - The Journal of …, 2016 - Am Soc Clin Investig
Eccrine sweat glands are essential for sweating and thermoregulation in humans. Loss-of-
function mutations in the Ca2+ release–activated Ca2+ (CRAC) channel genes ORAI1 and …

The role of ion channels in immune-related diseases

T Zhang, Q Liu, Z Li, S Tang, Q An, D Fan… - Progress in Biophysics …, 2023 - Elsevier
Ion channel is an integral membrane protein that allows the permeation of charge ions
across hydrophobic phospholipid membranes, including plasma membranes and organelle …

ORAI1 Ca2+ Channel as a Therapeutic Target in Pathological Vascular Remodelling

H Shawer, K Norman, CW Cheng, R Foster… - Frontiers in Cell and …, 2021 - frontiersin.org
In the adult, vascular smooth muscle cells (VSMC) are normally physiologically quiescent,
arranged circumferentially in one or more layers within blood vessel walls. Remodelling of …

STIM1‐mediated calcium influx controls antifungal immunity and the metabolic function of non‐pathogenic Th17 cells

S Kahlfuss, U Kaufmann, AR Concepcion… - EMBO molecular …, 2020 - embopress.org
Immunity to fungal infections is mediated by cells of the innate and adaptive immune system
including Th17 cells. Ca2+ influx in immune cells is regulated by stromal interaction …

Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation

G Morin, V Biancalana, A Echaniz‐Laguna… - Human …, 2020 - Wiley Online Library
Abstract Calcium (Ca2+) acts as a ubiquitous second messenger, and normal cell and tissue
physiology strictly depends on the precise regulation of Ca2+ entry, storage, and release …

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency

E Blanco, C Camps, S Bahal, MD Kerai… - Journal of Experimental …, 2025 - rupress.org
The importance of calcium (Ca2+) as a second messenger in T cell signaling is exemplified
by genetic deficiencies of STIM1 and ORAI1, which abolish store-operated Ca2+ entry …

Novel ORAI1 mutation disrupts channel trafficking resulting in combined immunodeficiency

F Yu, N Agrebi, R Mackeh, K Abouhazima… - Journal of Clinical …, 2021 - Springer
Abstract Store-operated Ca 2+ entry (SOCE) represents a predominant Ca 2+ influx pathway
in non-excitable cells. SOCE is required for immune cell activation and is mediated by the …