1. STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca
- Author
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Beatrice, Riva, Emanuela, Pessolano, Edoardo, Quaglia, Celia, Cordero-Sanchez, Irene P, Bhela, Ana, Topf, Marta, Serafini, Daniel, Cox, Elizabeth, Harris, Matteo, Garibaldi, Rita, Barresi, Tracey, Pirali, and Armando A, Genazzani
- Subjects
ORAI1 Protein ,Migraine Disorders ,COVID-19 ,Erythrocytes, Abnormal ,Ichthyosis ,Miosis ,Neoplasm Proteins ,Dyslexia ,Muscle Fatigue ,Mutation ,Humans ,Calcium ,Blood Platelet Disorders ,Stromal Interaction Molecule 1 ,Spleen ,Myopathies, Structural, Congenital - Abstract
Gain-of-function mutations on STIM1 and ORAI1 genes are responsible for an increased store-operated calcium entry, and underlie the characteristic symptoms of three overlapping ultra-rare genetic disorders (i.e tubular aggregate myopathy, Stormorken syndrome, York platelet syndrome) that can be grouped as tubular aggregate myopathies. These mutations lead to a wide spectrum of defects, which usually include muscle weakness and cramps. Negative modulators of store-operated Ca
- Published
- 2022