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

• Κύριοι συγγραφείς: Celia Cordero-Sanchez (Συγγραφέας), Beatrice Riva (Συγγραφέας), Simone Reano (Συγγραφέας), Nausicaa Clemente (Συγγραφέας), Ivan Zaggia (Συγγραφέας), Federico A. Ruffinatti (Συγγραφέας), Alberto Potenzieri (Συγγραφέας), Tracey Pirali (Συγγραφέας), Salvatore Raffa (Συγγραφέας), Sabina Sangaletti (Συγγραφέας), Mario P. Colombo (Συγγραφέας), Alessandra Bertoni (Συγγραφέας), Matteo Garibaldi (Συγγραφέας), Nicoletta Filigheddu (Συγγραφέας), Armando A. Genazzani (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: The Company of Biologists, 2020-02-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: 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...