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

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

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...

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Bibliographic Details
Main Authors: Celia Cordero-Sanchez, Beatrice Riva, Simone Reano, Nausicaa Clemente, Ivan Zaggia, Federico A. Ruffinatti, Alberto Potenzieri, Tracey Pirali, Salvatore Raffa, Sabina Sangaletti, Mario P. Colombo, Alessandra Bertoni, Matteo Garibaldi, Nicoletta Filigheddu, Armando A. Genazzani
Format: Article
Language:English
Published: The Company of Biologists 2020-02-01
Series:Disease Models & Mechanisms
Subjects:
stim1
calcium signaling
mouse model
rare disease
store-operated calcium entry
Online Access:http://dmm.biologists.org/content/13/2/dmm041111

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