Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

Signaling through the store-operated Ca(2+) release-activated Ca(2+) (CRAC) channel regulates critical cellular functions, including gene expression, cell growth and differentiation, and Ca(2+) homeostasis. Loss-of-function mutations in the CRAC channel pore-forming protein ORAI1 or the Ca(2+) sensi...

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Main Authors: Nesin, Vasyl, Wiley, Graham, Kousi, Maria, Ong, E-Ching, Lehmann, Thomas, Nicholl, David J., Suri, Mohnish, Shahrizaila, Nortina, Katsanis, Nicholas, Gaffney, Patrick M., Wierenga, Klaas J., Tsiokas, Leonidas
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2014
Fag:
Biological Sciences
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3964084/
https://ncbi.nlm.nih.gov/pubmed/24591628
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1312520111
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