York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1

Store-operated Ca(2+) entry is the major route of replenishment of intracellular Ca(2+) in animal cells in response to 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...

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Pubblicato in:Mol Genet Metab
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4355183/
https://ncbi.nlm.nih.gov/pubmed/25577287
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2014.12.307
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