Article
Impact of Genetic Variation on Human CaMKK2 Regulation by Ca2+-Calmodulin and Multisite Phosphorylation.
Scientific reports - 23 Feb 2017
O'Brien Matthew T, Oakhill Jonathan S, Ling Naomi X Y, Langendorf Christopher G, Hoque Ashfaqul, Dite Toby A, Means Anthony R, Kemp Bruce E, Scott John W
Abstract excerpt
The Ca2+-calmodulin dependent protein kinase kinase-2 (CaMKK2) is a key regulator of neuronal function and whole-body energy metabolism. Elevated CaMKK2 activity is strongly associated with prostate and hepatic cancers, whereas reduced CaMKK2 activity has been linked to schizophrenia and bipolar disease in humans. Here we report the functional effects of nine rare-variant point mutations that were detected in...
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