Article
A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy.
Disease models & mechanisms - 3 Dec 2019
Cordero-Sanchez Celia, Riva Beatrice, Reano Simone, Clemente Nausicaa, Zaggia Ivan, Ruffinatti Federico A, Potenzieri Alberto, Pirali Tracey, Raffa Salvatore, Sangaletti Sabina, Colombo Mario P, Bertoni Alessandra, Garibaldi Matteo, Filigheddu Nicoletta, Genazzani Armando A
Abstract excerpt
STIM and ORAI proteins play a fundamental role in calcium signaling, allowing for calcium influx through the plasma membrane upon depletion of intracellular stores, in a process known as store-operated Ca2+ entry. Point mutations that lead to gain-of-function activity of either STIM1 or ORAI1 are responsible for a cluster of ultra-rare syndromes characterized by motor disturbances and platelet dysfunction. The...
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