A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy

• Main Authors: Celia Cordero-Sanchez (Author), Beatrice Riva (Author), Simone Reano (Author), Nausicaa Clemente (Author), Ivan Zaggia (Author), Federico A. Ruffinatti (Author), Alberto Potenzieri (Author), Tracey Pirali (Author), Salvatore Raffa (Author), Sabina Sangaletti (Author), Mario P. Colombo (Author), Alessandra Bertoni (Author), Matteo Garibaldi (Author), Nicoletta Filigheddu (Author), Armando A. Genazzani (Author)
• Format: Book
• Published: The Company of Biologists, 2020-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 re...