Article
York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.
Molecular genetics and metabolism - 1 Mar 2015
Markello Thomas, Chen Dong, Kwan Justin Y, Horkayne-Szakaly Iren, Morrison Alan, Simakova Olga, Maric Irina, Lozier Jay, Cullinane Andrew R, Kilo Tatjana, Meister Lynn, Pakzad Kourosh, Bone William, Chainani Sanjay, Lee Elizabeth, Links Amanda, Boerkoel Cornelius, Fischer Roxanne, Toro Camilo, White James G, Gahl William A, Gunay-Aygun Meral
Abstract excerpt
Store-operated Ca(2+) entry is the major route of replenishment of intracellular Ca(2+) in animal cells in response to the depletion of Ca(2+) stores in the endoplasmic reticulum. It is primarily mediated by the Ca(2+)-selective release-activated Ca(2+) (CRAC) channel, which consists of the pore-forming subunits ORAI1-3 and the Ca(2+) sensors, STIM1 and STIM2. Recessive loss-of-function mutations in STIM1 or...
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