Activation mechanisms and structural dynamics of STIM proteins

M Sallinger, H Grabmayr, C Humer… - The Journal of …, 2024 - Wiley Online Library
The family of stromal interaction molecules (STIM) includes two widely expressed single‐
pass endoplasmic reticulum (ER) transmembrane proteins and additional splice variants …

[HTML][HTML] STIM and orai mediated regulation of calcium signaling in age-related diseases

HE Collins, D Zhang, JC Chatham - Frontiers in Aging, 2022 - frontiersin.org
Tight spatiotemporal regulation of intracellular Ca2+ plays a critical role in regulating diverse
cellular functions including cell survival, metabolism, and transcription. As a result …

Store-operated calcium entry: From physiology to tubular aggregate myopathy

F Protasi, B Girolami, S Roccabianca… - Current Opinion in …, 2023 - Elsevier
Abstract Store-Operated Ca 2+ entry (SOCE) is recognized as a key mechanism in muscle
physiology necessary to refill intracellular Ca 2+ stores during sustained muscle activity. For …

[HTML][HTML] Alteration of STIM1/Orai1-mediated SOCE in skeletal muscle: Impact in genetic muscle diseases and beyond

E Conte, P Imbrici, P Mantuano, MA Coppola… - Cells, 2021 - mdpi.com
Intracellular Ca2+ ions represent a signaling mediator that plays a critical role in regulating
different muscular cellular processes. Ca2+ homeostasis preservation is essential for …

[HTML][HTML] Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in …

R Silva-Rojas, L Pérez-Guàrdia, E Lafabrie… - International journal of …, 2022 - mdpi.com
Tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK) form a clinical
continuum associating progressive muscle weakness with additional multi-systemic …

[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 …

Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy

GNA Vattemi, D Rossi, L Galli… - European Journal of …, 2022 - Wiley Online Library
Two likely causative mutations in the RYR1 gene were identified in two patients with
myopathy with tubular aggregates, but no evidence of cores or core‐like pathology on …

Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation

L vanden Brande, S Bauché… - Neuropathology and …, 2024 - Wiley Online Library
Aims Limb‐girdle congenital myasthenic syndrome (LG‐CMS) is a genetically
heterogeneous disorder characterised by muscle weakness and fatigability. The LG‐CMS …

Mutations in proteins involved in EC coupling and SOCE and congenital myopathies

D Rossi, MR Catallo, E Pierantozzi… - Journal of General …, 2022 - rupress.org
In skeletal muscle, Ca2+ necessary for muscle contraction is stored and released from the
sarcoplasmic reticulum (SR), a specialized form of endoplasmic reticulum through the …

[HTML][HTML] STIM1-Orai1 interaction mediated calcium influx activation contributes to cardiac contractility of insulin-resistant rats

A Durak, Y Olgar, K Genc, E Tuncay, F Akat… - BMC Cardiovascular …, 2022 - Springer
Abstract Purpose Metabolic syndrome (MetS) became a tremendous public health burden in
the last decades. Store-operated calcium entry (SOCE) is a unique mechanism that causes …