Article
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
Proceedings of the National Academy of Sciences of the United States of America - 18 Mar 2014
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
Abstract excerpt
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+) sensing protein stromal interaction molecule 1 (STIM1) result in severe immune dysfunction and nonprogressive myopathy....
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