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 …

Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome

J Böhm, J Laporte - Cell calcium, 2018 - Elsevier
Abstract Calcium (Ca 2+) is a key regulator for a large number of cellular functions in all
kinds of cells, and small disturbances of Ca 2+ homeostasis can severely compromise …

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

L Pérez-Guàrdia, E Lafabrie, N Diedhiou… - Cells, 2024 - mdpi.com
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 …

STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice

R Silva-Rojas, S Treves, H Jacobs… - Human molecular …, 2019 - academic.oup.com
Strict regulation of Ca2+ homeostasis is essential for normal cellular physiology. Store-
operated Ca2+ entry (SOCE) is a major mechanism controlling basal Ca2+ levels and …

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 …

[HTML][HTML] ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome

R Silva-Rojas, L Pérez-Guàrdia, A Simon, S Djeddi… - JCI insight, 2024 - ncbi.nlm.nih.gov
Tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK) are clinically
overlapping disorders characterized by childhood-onset muscle weakness and a variable …

Stormorken syndrome caused by a novel STIM1 mutation: A case report

LJ Jiang, X Zhao, ZY Dou, QX Su, ZH Rong - Frontiers in Neurology, 2021 - frontiersin.org
Objective: To identify the gene mutation of Stormorken syndrome and review the published
Stromal Interaction Molecule 1 (STIM1) mutation phenotype. Methods: We described the …

Chronic thrombocytopenia as the initial manifestation of STIM1-related disorders

A Sura, J Jacher, E Neil, K McFadden, K Walkovich… - …, 2020 - publications.aap.org
POTENTIAL CONFLICT OF INTEREST: Mr Jacher is a current employee of Blueprint
Genetics, and his affiliation during the drafting and submission of this article was as a full …

Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome

GA Peche, C Spiegelhalter, R Silva‐Rojas… - …, 2020 - Wiley Online Library
Tubular aggregate myopathy (TAM) is a progressive disorder characterized by muscle
weakness, cramps, and myalgia. TAM clinically overlaps with Stormorken syndrome …

[HTML][HTML] La myopathie à agrégats tubulaires et le syndrome de Stormorken

J Böhm, J Laporte - médecine/sciences, 2018 - medecinesciences.org
Le calcium est un régulateur essentiel pour un grand nombre de fonctions cellulaires, et une
perturbation de l'homéostasie calcique peut sévèrement troubler la physiologie de différents …