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 Ca(2+) entry. Point mutations that lead to gain-of-function activity of either STIM1 or ORAI1 are...

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Vydáno v:Dis Model Mech
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: The Company of Biologists Ltd 2019
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6906633/
https://ncbi.nlm.nih.gov/pubmed/31666234
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.041111
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